Variant report

Variant	rs371123308
Chromosome Location	chr4:2965366-2965367
allele	C/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	MAZ	chr4:2965019-2965695	HepG2	liver:	n/a	chr4:2965246-2965255
2	MYC	chr4:2964627-2965369	HUVEC	blood vessel:	n/a	chr4:2965246-2965255
3	MAX	chr4:2964486-2965973	MCF-7	breast:	n/a	chr4:2965876-2965886 chr4:2965246-2965255
4	USF1	chr4:2964840-2965543	SK-N-SH	brain:	n/a	chr4:2965049-2965065
5	MXI1	chr4:2964181-2965562	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr4:2965162-2965439	GM12892	blood:	n/a	n/a
7	EP300	chr4:2964981-2965383	T-47D	breast:	n/a	chr4:2965309-2965325 chr4:2965188-2965197
8	GATA3	chr4:2964824-2965525	SK-N-SH	brain:	n/a	chr4:2965492-2965501
9	ATF1	chr4:2965059-2965420	K562	blood:	n/a	n/a
10	YY1	chr4:2964681-2965388	H1-hESC	embryonic stem cell:	n/a	chr4:2965311-2965320 chr4:2965305-2965319 chr4:2965055-2965066 chr4:2965308-2965317 chr4:2965252-2965261
11	CREB1	chr4:2964414-2965875	HepG2	liver:	n/a	n/a
12	MAX	chr4:2964512-2965880	K562	blood:	n/a	chr4:2965246-2965255
13	ZMIZ1	chr4:2964828-2965501	K562	blood:	n/a	n/a
14	TCF7L2	chr4:2964390-2965769	HCT-116	colon:	n/a	n/a
15	POLR2A	chr4:2964479-2966046	MCF-7	breast:	n/a	n/a
16	HDAC2	chr4:2964336-2965832	HepG2	liver:	n/a	chr4:2965475-2965484
17	POLR2A	chr4:2964496-2965592	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr4:2964555-2965848	GM18526	blood:	n/a	n/a
19	POLR2A	chr4:2964557-2965566	K562	blood:	n/a	n/a
20	UBTF	chr4:2963139-2966263	K562	blood:	n/a	n/a
21	FOXP2	chr4:2964936-2965448	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr4:2964403-2965983	H1-neurons	neurons:	n/a	n/a
23	ZC3H11A	chr4:2964931-2965375	K562	blood:	n/a	n/a
24	POLR2A	chr4:2964591-2965770	HepG2	liver:	n/a	n/a
25	MAX	chr4:2963092-2966134	NB4	blood:	n/a	chr4:2965876-2965886 chr4:2965246-2965255
26	ZNF143	chr4:2964939-2965623	H1-hESC	embryonic stem cell:	n/a	chr4:2965229-2965238 chr4:2965284-2965302 chr4:2965229-2965247 chr4:2965233-2965252 chr4:2965291-2965300 chr4:2965231-2965240 chr4:2965279-2965298
27	CTCF	chr4:2965136-2965474	Lung_OC	lung:	n/a	n/a
28	JUND	chr4:2964492-2965544	K562	blood:	n/a	n/a
29	PML	chr4:2963466-2965945	GM12878	blood:	n/a	n/a
30	MAZ	chr4:2964651-2965797	GM12878	blood:	n/a	chr4:2965246-2965255
31	ZBTB33	chr4:2964382-2965560	SK-N-SH	brain:	n/a	chr4:2965144-2965154 chr4:2965143-2965152 chr4:2964662-2964671 chr4:2965141-2965156 chr4:2965165-2965180
32	ATF3	chr4:2965072-2965373	H1-hESC	embryonic stem cell:	n/a	n/a
33	BRCA1	chr4:2964483-2965545	Hela-S3	cervix:	n/a	chr4:2965143-2965152 chr4:2965170-2965179
34	USF1	chr4:2964839-2965397	SK-N-SH	brain:	n/a	chr4:2965049-2965065
35	ZBTB33	chr4:2964972-2965424	HCT-116	colon:	n/a	chr4:2965144-2965154 chr4:2965143-2965152 chr4:2965141-2965156 chr4:2965165-2965180
36	CREB1	chr4:2964401-2965641	H1-hESC	embryonic stem cell:	n/a	n/a
37	GABPA	chr4:2964653-2965489	MCF-7	breast:	n/a	chr4:2965188-2965197
38	TAF1	chr4:2964407-2965960	ECC-1	luminal epithelium:	n/a	n/a
39	ZBTB33	chr4:2964359-2965615	A549	lung:	n/a	chr4:2965144-2965154 chr4:2965143-2965152 chr4:2964662-2964671 chr4:2965141-2965156 chr4:2965165-2965180
40	ZBTB7A	chr4:2964476-2965931	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr4:2964449-2965951	GM18505	blood:	n/a	n/a
42	POLR2A	chr4:2963047-2966632	MCF10A-Er-Src	breast:	n/a	n/a
43	CTCF	chr4:2965240-2965390	WERI-Rb-1	eye:	n/a	n/a
44	ESR1	chr4:2964974-2965451	ECC-1	luminal epithelium:	n/a	n/a
45	BHLHE40	chr4:2964504-2965743	GM12878	blood:	n/a	chr4:2965049-2965065
46	BCLAF1	chr4:2964868-2965703	GM12878	blood:	n/a	chr4:2965252-2965265 chr4:2965188-2965201 chr4:2965309-2965318 chr4:2965291-2965299
47	ETS1	chr4:2964909-2965520	GM12878	blood:	n/a	chr4:2965228-2965241 chr4:2965130-2965141 chr4:2965232-2965239 chr4:2965227-2965240 chr4:2965448-2965459 chr4:2965291-2965304 chr4:2965143-2965152 chr4:2965290-2965303 chr4:2965125-2965142 chr4:2965128-2965142
48	CTCF	chr4:2964986-2965525	GM12878	blood:	n/a	n/a
49	ETS1	chr4:2964874-2965434	GM12878	blood:	n/a	chr4:2965228-2965241 chr4:2965130-2965141 chr4:2965232-2965239 chr4:2965227-2965240 chr4:2965291-2965304 chr4:2965143-2965152 chr4:2965290-2965303 chr4:2965125-2965142 chr4:2965128-2965142
50	YY1	chr4:2964561-2965880	ECC-1	luminal epithelium:	n/a	chr4:2964581-2964590 chr4:2965525-2965536 chr4:2965858-2965872 chr4:2965311-2965320 chr4:2965305-2965319 chr4:2965055-2965066 chr4:2965560-2965574 chr4:2965308-2965317 chr4:2965451-2965462 chr4:2965252-2965261

No.	Distal block	Cell Line	Cell type
1	chr4:2935142..2937747-chr4:2962615..2966345,4	MCF-7	breast:
2	chr4:2964356..2966158-chr4:3074837..3077632,2	K562	blood:
3	chr4:1857657..1859808-chr4:2963800..2965708,2	MCF-7	breast:
4	chr4:2756517..2759780-chr4:2963075..2966456,5	K562	blood:
5	chr4:2964631..2965442-chr8:125486338..125486843,2	Hela-S3	cervix:
6	chr4:2936328..2940860-chr4:2961848..2966602,8	K562	blood:
7	chr3:101567965..101568846-chr4:2964649..2965572,2	NB4	blood:
8	chr4:2756517..2759604-chr4:2963075..2966301,5	K562	blood:
9	chr4:2963799..2967429-chr4:2967585..2973552,6	K562	blood:
10	chr4:2845175..2847151-chr4:2963481..2966387,2	MCF-7	breast:

Variant related genes	Relation type
NOP14	TF binding region
GRK4	TF binding region
ENSG00000168884	Chromatin interaction
ENSG00000125388	Chromatin interaction
ENSG00000251075	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000197386	Chromatin interaction
ENSG00000109736	Chromatin interaction
ENSG00000087274	Chromatin interaction
ENSG00000168924	Chromatin interaction
ENSG00000249673	Chromatin interaction
ENSG00000144802	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv1008436	chr4:2947160-3031195	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv536998	chr4:2947160-3031195	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv593438	chr4:2948456-3030097	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1008527	chr4:2957814-3019042	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1014013	chr4:2959876-3009507	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv536999	chr4:2959876-3009507	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv878453	chr4:2963222-3021383	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1008781	chr4:2964080-3019042	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv1003528	chr4:2964261-3011568	Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv537000	chr4:2964261-3011568	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	esv3406626	chr4:2964379-2966927	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2963000-2965400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:2963000-2966400	Active TSS	Psoas Muscle	Psoas
3	chr4:2963200-2965800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr4:2963200-2966000	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr4:2963200-2966200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr4:2963200-2966800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:2963400-2965800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr4:2963400-2966000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr4:2963400-2966400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr4:2963600-2965800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:2963600-2965800	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr4:2963600-2966000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:2963600-2966200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr4:2963600-2966400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:2963800-2965800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:2963800-2966000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:2963800-2966000	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr4:2963800-2966000	Active TSS	Esophagus	oesophagus
19	chr4:2963800-2966000	Active TSS	Fetal Intestine Large	intestine
20	chr4:2963800-2966000	Active TSS	Gastric	stomach
21	chr4:2963800-2966000	Active TSS	GM12878-XiMat	blood
22	chr4:2963800-2966000	Active TSS	HepG2	liver
23	chr4:2963800-2966200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:2963800-2966200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:2963800-2966200	Active TSS	HMEC	breast
26	chr4:2963800-2966200	Active TSS	NHDF-Ad	bronchial
27	chr4:2963800-2966400	Active TSS	Fetal Kidney	kidney
28	chr4:2964000-2965800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr4:2964000-2965800	Active TSS	Fetal Muscle Trunk	muscle
30	chr4:2964000-2966000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:2964000-2966000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:2964000-2966000	Active TSS	Small Intestine	intestine
33	chr4:2964000-2966000	Active TSS	K562	blood
34	chr4:2964000-2966000	Active TSS	NHLF	lung
35	chr4:2964000-2966200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:2964000-2966400	Active TSS	Ovary	ovary
37	chr4:2964000-2966400	Active TSS	A549	lung
38	chr4:2964000-2966800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:2964200-2965800	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr4:2964200-2966000	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr4:2964200-2966000	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr4:2964200-2966000	Active TSS	Muscle Satellite Cultured Cells	--
43	chr4:2964200-2966000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:2964200-2966000	Active TSS	Fetal Intestine Small	intestine
45	chr4:2964200-2966000	Active TSS	Lung	lung
46	chr4:2964200-2966000	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr4:2964200-2966000	Active TSS	Stomach Mucosa	stomach
48	chr4:2964200-2966000	Active TSS	Stomach Smooth Muscle	stomach
49	chr4:2964200-2966000	Active TSS	Thymus	Thymus
50	chr4:2964200-2966000	Active TSS	Hela-S3	cervix

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