Variant report

Variant	rs578155953
Chromosome Location	chr1:180198881-180198882
allele	G/T
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	CTBP2	chr1:180197846-180199045	H1-hESC	embryonic stem cell:	n/a	n/a
2	HMGN3	chr1:180198110-180199328	K562	blood:	n/a	n/a
3	MAX	chr1:180198747-180199194	K562	blood:	n/a	n/a
4	MAX	chr1:180198756-180199099	K562	blood:	n/a	n/a
5	MAX	chr1:180197913-180199255	ECC-1	luminal epithelium:	n/a	n/a
6	MYC	chr1:180198728-180198900	MCF-7	breast:	n/a	n/a
7	HDAC2	chr1:180198829-180199087	K562	blood:	n/a	n/a
8	MAX	chr1:180198568-180199536	MCF-7	breast:	n/a	chr1:180199482-180199492
9	E2F6	chr1:180197561-180199243	H1-hESC	embryonic stem cell:	n/a	chr1:180199215-180199225 chr1:180198561-180198571 chr1:180199214-180199223
10	ZKSCAN1	chr1:180198751-180199041	Hela-S3	cervix:	n/a	n/a
11	CREB1	chr1:180198879-180199615	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:180198472-180199267	MCF-7	breast:	n/a	n/a
13	EGR1	chr1:180198620-180199357	HCT-116	colon:	n/a	chr1:180199316-180199326
14	ZBTB7A	chr1:180198824-180199396	K562	blood:	n/a	n/a
15	TAF1	chr1:180198799-180199085	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr1:180198789-180199126	ECC-1	luminal epithelium:	n/a	n/a
17	SIN3AK20	chr1:180198701-180198947	H1-hESC	embryonic stem cell:	n/a	n/a
18	E2F6	chr1:180198508-180199126	K562	blood:	n/a	chr1:180198561-180198571
19	MAX	chr1:180198837-180199203	Hela-S3	cervix:	n/a	n/a
20	UBTF	chr1:180198327-180199086	K562	blood:	n/a	n/a
21	MAX	chr1:180197799-180199538	ECC-1	luminal epithelium:	n/a	chr1:180199482-180199492
22	EGR1	chr1:180198566-180199117	H1-hESC	embryonic stem cell:	n/a	n/a
23	EGR1	chr1:180198877-180199488	K562	blood:	n/a	chr1:180199316-180199326
24	POLR2A	chr1:180198817-180199061	Hela-S3	cervix:	n/a	n/a
25	E2F6	chr1:180198626-180199227	A549	lung:	n/a	chr1:180199215-180199225 chr1:180199214-180199223
26	GTF2F1	chr1:180198592-180199042	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr1:180198121-180199141	HepG2	liver:	n/a	n/a
28	JUND	chr1:180198373-180198897	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr1:180198881-180199066	A549	lung:	n/a	n/a
30	E2F6	chr1:180197892-180199368	K562	blood:	n/a	chr1:180199215-180199225 chr1:180198561-180198571 chr1:180199214-180199223
31	GABPA	chr1:180198565-180198959	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr1:180198627-180199753	NB4	blood:	n/a	chr1:180199482-180199492
33	TCF12	chr1:180198662-180199804	ECC-1	luminal epithelium:	n/a	n/a
34	ZBTB7A	chr1:180198135-180200333	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr1:180198712-180199210	ProgFib	skin:	n/a	n/a
36	ZNF143	chr1:180198691-180198891	H1-hESC	embryonic stem cell:	n/a	n/a
37	ZNF263	chr1:180198430-180199021	HEK293-T-REx	kidney:	n/a	chr1:180198755-180198764
38	ELF1	chr1:180198846-180199298	K562	blood:	n/a	chr1:180199217-180199226
39	SUZ12	chr1:180197213-180199016	NT2-D1	testis:	n/a	n/a
40	HCFC1	chr1:180198844-180199004	K562	blood:	n/a	n/a
41	YY1	chr1:180198824-180199127	ECC-1	luminal epithelium:	n/a	chr1:180198992-180199001 chr1:180198993-180199007 chr1:180199016-180199030
42	POLR2A	chr1:180198770-180199298	H1-hESC	embryonic stem cell:	n/a	n/a
43	SIN3A	chr1:180198105-180201535	H1-hESC	embryonic stem cell:	n/a	chr1:180199800-180199811 chr1:180201367-180201377 chr1:180200185-180200198 chr1:180198586-180198597 chr1:180198584-180198597
44	TBP	chr1:180198778-180199157	K562	blood:	n/a	n/a
45	HA-E2F1	chr1:180197498-180198973	MCF-7	breast:	n/a	chr1:180198561-180198571
46	ZBTB7A	chr1:180198413-180199116	K562	blood:	n/a	n/a
47	MAX	chr1:180198242-180198920	A549	lung:	n/a	n/a
48	MYC	chr1:180198741-180199051	K562	blood:	n/a	n/a
49	BACH1	chr1:180198468-180199024	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr1:180197655-180199566	H1-hESC	embryonic stem cell:	n/a	chr1:180199482-180199492

No.	Distal block	Cell Line	Cell type
1	chr1:180197504..180199167-chr1:180224925..180226535,2	MCF-7	breast:
2	chr1:179832613..179834557-chr1:180196646..180198975,2	MCF-7	breast:
3	chr1:180197757..180200322-chr1:180217302..180220148,2	K562	blood:
4	chr1:180157764..180160729-chr1:180196773..180199044,2	MCF-7	breast:
5	chr1:180197528..180200245-chr1:180468948..180472883,3	MCF-7	breast:
6	chr1:180196398..180198939-chr20:52539225..52540761,2	MCF-7	breast:
7	chr1:180179631..180182619-chr1:180197309..180199073,2	K562	blood:
8	chr1:180049598..180051873-chr1:180198863..180200788,2	MCF-7	breast:

Variant related genes	Relation type
LHX4	TF binding region
ENSG00000121454	Chromatin interaction
ENSG00000258664	Chromatin interaction
ENSG00000135837	Chromatin interaction
ENSG00000135847	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv1012558	chr1:180027960-180217613	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv535218	chr1:180027960-180217613	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv497930	chr1:180031321-180220723	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv533073	chr1:180031328-180217612	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv916937	chr1:180031328-180220685	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv1007590	chr1:180121480-180236452	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv999104	chr1:180121480-180242659	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1002133	chr1:180127036-180230081	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv1011134	chr1:180127616-180201104	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv999182	chr1:180127616-180236452	Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv1005512	chr1:180127616-180242659	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv832004	chr1:180128502-180335540	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
16	nsv1012816	chr1:180132688-180201104	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
17	nsv1012145	chr1:180132688-180236452	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
18	nsv466239	chr1:180145978-180268476	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
19	nsv548345	chr1:180145978-180268476	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
20	nsv1005793	chr1:180150400-180205202	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
21	nsv1005073	chr1:180152550-180250783	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
22	nsv535219	chr1:180152550-180250783	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
23	nsv1001477	chr1:180172903-180298287	Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv535220	chr1:180172903-180298287	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
25	nsv498075	chr1:180179441-180278544	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
26	nsv872575	chr1:180186713-180238243	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
27	esv3361812	chr1:180197754-180200702	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
28	esv14202	chr1:180198652-180200893	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180197400-180201000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:180197600-180201000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr1:180197800-180201000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:180197800-180201000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr1:180197800-180201000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:180197800-180201200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:180198000-180199000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
8	chr1:180198000-180199000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
9	chr1:180198000-180199000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
10	chr1:180198000-180200600	Bivalent/Poised TSS	NHEK	skin
11	chr1:180198000-180201000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
13	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
21	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
22	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
23	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
24	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
25	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
26	chr1:180198200-180199200	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr1:180198200-180199600	Bivalent/Poised TSS	Fetal Brain Female	brain
28	chr1:180198200-180199600	Bivalent/Poised TSS	Osteobl	bone
29	chr1:180198200-180200000	Flanking Bivalent TSS/Enh	Thymus	Thymus
30	chr1:180198200-180201000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
31	chr1:180198400-180199000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:180198400-180199000	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr1:180198400-180199000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr1:180198400-180199000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:180198400-180199000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:180198400-180199000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
37	chr1:180198400-180199000	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
38	chr1:180198400-180199000	Transcr. at gene 5' and 3'	Right Atrium	heart
39	chr1:180198400-180199400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:180198400-180199400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:180198400-180199400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:180198400-180199600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:180198400-180199600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
44	chr1:180198400-180199600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
45	chr1:180198400-180199600	Active TSS	K562	blood
46	chr1:180198400-180199800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:180198400-180200000	Active TSS	H9 Cell Line	embryonic stem cell
48	chr1:180198400-180200000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:180198400-180200000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
50	chr1:180198400-180200000	Active TSS	Hela-S3	cervix

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