Variant report

Variant	rs76210998
Chromosome Location	chr1:104069211-104069212
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr1:104067900-104069278	Hela-S3	cervix:	n/a	chr1:104068541-104068550
2	MYC	chr1:104068282-104069245	NB4	blood:	n/a	n/a
3	ESRRA	chr1:104068244-104069757	GM12878	blood:	n/a	chr1:104069681-104069691
4	POLR2A	chr1:104068190-104069291	Hela-S3	cervix:	n/a	n/a
5	TBP	chr1:104067924-104069266	Hela-S3	cervix:	n/a	n/a
6	HCFC1	chr1:104068071-104069256	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr1:104067816-104069291	GM19099	blood:	n/a	n/a
8	IRF1	chr1:104067920-104069464	K562	blood:	n/a	chr1:104068960-104068973 chr1:104068376-104068396
9	POLR2A	chr1:104067858-104069279	K562	blood:	n/a	n/a
10	RAD21	chr1:104068584-104069299	H1-hESC	embryonic stem cell:	n/a	n/a
11	MXI1	chr1:104068293-104069255	Hela-S3	cervix:	n/a	n/a
12	JUND	chr1:104067919-104069290	K562	blood:	n/a	chr1:104068958-104068970
13	POLR2A	chr1:104067550-104069454	GM12891	blood:	n/a	n/a
14	MAZ	chr1:104067939-104069252	K562	blood:	n/a	n/a
15	E2F4	chr1:104067699-104069544	MCF10A-Er-Src	breast:	n/a	chr1:104068592-104068607 chr1:104068885-104068899 chr1:104068313-104068322
16	RFX5	chr1:104068959-104069218	HepG2	liver:	n/a	n/a
17	FOS	chr1:104068481-104069231	MCF10A-Er-Src	breast:	n/a	chr1:104068958-104068970
18	MAFF	chr1:104068373-104069285	K562	blood:	n/a	n/a
19	CTBP2	chr1:104068522-104069274	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:104067881-104069405	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:104067892-104069252	Hela-S3	cervix:	n/a	n/a
22	MAZ	chr1:104067699-104069232	GM12878	blood:	n/a	n/a
23	STAT3	chr1:104068359-104069454	MCF10A-Er-Src	breast:	n/a	chr1:104068937-104068949 chr1:104069431-104069439
24	CHD2	chr1:104068225-104069285	GM12878	blood:	n/a	chr1:104068541-104068550
25	CHD1	chr1:104068464-104069301	GM12878	blood:	n/a	chr1:104068541-104068550
26	CUX1	chr1:104068962-104069430	K562	blood:	n/a	n/a
27	CTCF	chr1:104068358-104069562	K562	blood:	n/a	n/a
28	GATA1	chr1:104068372-104069331	PBDE	blood:	n/a	n/a
29	CTCF	chr1:104069120-104069270	GM12872	blood:	n/a	n/a
30	POLR2A	chr1:104067934-104069316	GM18505	blood:	n/a	n/a
31	BRCA1	chr1:104068257-104069233	Hela-S3	cervix:	n/a	chr1:104068541-104068550
32	REST	chr1:104068014-104069215	H1-neurons	neurons:	n/a	n/a
33	RFX5	chr1:104068324-104069213	Hela-S3	cervix:	n/a	n/a
34	MXI1	chr1:104068303-104069351	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:104067646-104069464	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr1:104067850-104069429	K562	blood:	n/a	n/a
37	NRF1	chr1:104068212-104069260	SK-N-SH	brain:	n/a	chr1:104068311-104068322 chr1:104068314-104068323 chr1:104068312-104068326 chr1:104068312-104068323
38	POLR2A	chr1:104067804-104070731	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr1:104067872-104070657	K562	blood:	n/a	n/a
40	ARID3A	chr1:104068425-104069462	K562	blood:	n/a	n/a
41	POLR2A	chr1:104067996-104069228	GM15510	blood:	n/a	n/a
42	MAX	chr1:104068303-104069450	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr1:104068298-104069212	PBDE	blood:	n/a	n/a
44	SIN3A	chr1:104068342-104069227	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:104068373..104071907-chr1:104081557..104086760,7	K562	blood:
2	chr1:104068563..104070409-chr1:104091369..104094625,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224613	TF binding region
ENSG00000185946	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931600	chr1:103548397-104161031	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv498007	chr1:103573857-104107589	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv432554	chr1:103673437-104128773	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv533171	chr1:103746487-104297301	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv1832550	chr1:103913907-104337600	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv527940	chr1:103916755-104128618	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv527283	chr1:103916755-104128773	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv830904	chr1:103935631-104107185	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	esv1824304	chr1:103990359-104337600	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	esv1824505	chr1:103990359-104337600	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	esv1846825	chr1:103990359-104337600	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	esv1849546	chr1:103990359-104452002	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	esv2757743	chr1:103990359-104452002	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	esv2758954	chr1:103990359-104452002	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
15	nsv428157	chr1:103990359-104452002	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
16	esv1824711	chr1:103990359-104650457	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
17	nsv1000860	chr1:104001031-104225556	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
18	nsv916834	chr1:104004905-104155290	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
19	nsv526367	chr1:104019631-104329877	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
20	nsv1012356	chr1:104020559-104178026	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
21	nsv830915	chr1:104024830-104293282	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
22	nsv997808	chr1:104030120-104268210	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
23	nsv432565	chr1:104039979-104156979	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
24	nsv523177	chr1:104043185-104128773	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
25	nsv870570	chr1:104043185-104159715	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
26	nsv871607	chr1:104043185-104165225	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
27	nsv871704	chr1:104043185-104182209	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
28	nsv871438	chr1:104043185-104261708	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
29	nsv871173	chr1:104043185-104268705	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
30	nsv871725	chr1:104043185-104292931	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
31	nsv870934	chr1:104043185-104306316	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
32	nsv871791	chr1:104043185-104342898	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
33	nsv1002902	chr1:104046284-104268210	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
34	nsv871894	chr1:104049019-104140012	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
35	nsv1006715	chr1:104066865-104158297	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
36	nsv999292	chr1:104067233-104225556	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
37	nsv870467	chr1:104067608-104140012	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
38	esv13780	chr1:104067889-104069222	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104067200-104071400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:104067400-104069400	Active TSS	HSMM	muscle
3	chr1:104067400-104069600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:104067400-104069600	Active TSS	Aorta	Aorta
5	chr1:104067400-104069600	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr1:104067400-104069800	Active TSS	Muscle Satellite Cultured Cells	--
7	chr1:104067400-104070000	Active TSS	A549	lung
8	chr1:104067400-104070600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr1:104067400-104070800	Active TSS	Right Ventricle	heart
10	chr1:104067400-104070800	Active TSS	Stomach Smooth Muscle	stomach
11	chr1:104067400-104071600	Active TSS	Right Atrium	heart
12	chr1:104067600-104069400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:104067600-104069400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:104067600-104069400	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:104067600-104069600	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr1:104067600-104069600	Active TSS	Brain Anterior Caudate	brain
17	chr1:104067600-104069600	Active TSS	Brain Germinal Matrix	brain
18	chr1:104067600-104069600	Active TSS	Brain Substantia Nigra	brain
19	chr1:104067600-104069600	Active TSS	Fetal Kidney	kidney
20	chr1:104067600-104069600	Active TSS	Rectal Smooth Muscle	rectum
21	chr1:104067600-104069600	Active TSS	Thymus	Thymus
22	chr1:104067600-104069800	Active TSS	H1 Cell Line	embryonic stem cell
23	chr1:104067600-104069800	Active TSS	Colon Smooth Muscle	Colon
24	chr1:104067600-104070000	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr1:104067600-104070000	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr1:104067600-104070000	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr1:104067600-104070000	Active TSS	Fetal Lung	lung
28	chr1:104067600-104070000	Active TSS	NHDF-Ad	bronchial
29	chr1:104067600-104070200	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr1:104067600-104070200	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr1:104067600-104070200	Active TSS	Brain Cingulate Gyrus	brain
32	chr1:104067600-104070400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:104067600-104070400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:104067600-104070400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:104067600-104070600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:104067600-104070600	Active TSS	NHLF	lung
37	chr1:104067600-104070800	Active TSS	Fetal Brain Female	brain
38	chr1:104067600-104071600	Active TSS	GM12878-XiMat	blood
39	chr1:104067800-104069400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr1:104067800-104069400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:104067800-104069400	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr1:104067800-104069400	Active TSS	Fetal Muscle Trunk	muscle
43	chr1:104067800-104069400	Active TSS	NH-A	brain
44	chr1:104067800-104069600	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr1:104067800-104069600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:104067800-104069600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:104067800-104069600	Active TSS	Colonic Mucosa	Colon
48	chr1:104067800-104069800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:104067800-104069800	Active TSS	Fetal Stomach	stomach
50	chr1:104067800-104070200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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