Variant report

Variant	rs531812893
Chromosome Location	chr7:26241511-26241512
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:390)
CpG islands
(count:61)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr7:26240930-26242111	GM12892	blood:	n/a	n/a
2	EP300	chr7:26239159-26242217	ECC-1	luminal epithelium:	n/a	chr7:26241766-26241782
3	TAF1	chr7:26239110-26242436	H1-hESC	embryonic stem cell:	n/a	n/a
4	POU2F2	chr7:26241233-26241583	GM12878	blood:	n/a	n/a
5	NR3C1	chr7:26240912-26242081	A549	lung:	n/a	n/a
6	POLR2A	chr7:26238932-26242189	Hela-S3	cervix:	n/a	n/a
7	EGR1	chr7:26240829-26241545	ECC-1	luminal epithelium:	n/a	n/a
8	JUND	chr7:26241105-26241595	A549	lung:	n/a	n/a
9	GTF2B	chr7:26239378-26241589	K562	blood:	n/a	n/a
10	MYC	chr7:26239148-26242431	K562	blood:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
11	GABPA	chr7:26240791-26241556	K562	blood:	n/a	n/a
12	CREB1	chr7:26240939-26241963	H1-hESC	embryonic stem cell:	n/a	n/a
13	JUND	chr7:26238674-26242523	K562	blood:	n/a	n/a
14	TAF1	chr7:26241153-26241626	GM12892	blood:	n/a	n/a
15	EP300	chr7:26239527-26241570	HepG2	liver:	n/a	n/a
16	CREB1	chr7:26239626-26242130	A549	lung:	n/a	n/a
17	TAF7	chr7:26237656-26242650	H1-hESC	embryonic stem cell:	n/a	n/a
18	GABPA	chr7:26239114-26241741	MCF-7	breast:	n/a	n/a
19	CEBPD	chr7:26239242-26241690	K562	blood:	n/a	n/a
20	ZBTB7A	chr7:26240412-26241955	ECC-1	luminal epithelium:	n/a	chr7:26241512-26241520 chr7:26241750-26241759 chr7:26241153-26241164
21	POLR2A	chr7:26234743-26243058	K562	blood:	n/a	n/a
22	SP1	chr7:26240168-26241614	K562	blood:	n/a	chr7:26241204-26241218 chr7:26241355-26241369 chr7:26241530-26241544 chr7:26241531-26241540 chr7:26241536-26241545
23	TCF12	chr7:26241223-26241750	A549	lung:	n/a	n/a
24	MYC	chr7:26241461-26241626	GM12878	blood:	n/a	n/a
25	MAX	chr7:26238972-26242566	NB4	blood:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
26	POLR2A	chr7:26225813-26242266	Hela-S3	cervix:	n/a	n/a
27	SP1	chr7:26240090-26241589	H1-hESC	embryonic stem cell:	n/a	chr7:26241204-26241218 chr7:26241355-26241369 chr7:26241530-26241544 chr7:26241531-26241540 chr7:26241536-26241545
28	POLR2A	chr7:26239155-26242088	GM12878	blood:	n/a	n/a
29	TBP	chr7:26239483-26241626	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:26240954-26241999	A549	lung:	n/a	n/a
31	GTF2F1	chr7:26239249-26241602	K562	blood:	n/a	n/a
32	MAX	chr7:26238798-26242456	A549	lung:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
33	EGR1	chr7:26239465-26241553	ECC-1	luminal epithelium:	n/a	chr7:26239784-26239798
34	RCOR1	chr7:26239516-26241719	Hela-S3	cervix:	n/a	n/a
35	TAF1	chr7:26241212-26241594	PFSK-1	brain:	n/a	n/a
36	GTF2F1	chr7:26239441-26241535	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr7:26237645-26241724	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr7:26237748-26241705	U87	brain:	n/a	n/a
39	RFX5	chr7:26240998-26241545	GM12878	blood:	n/a	n/a
40	YY1	chr7:26240986-26241583	GM12891	blood:	n/a	chr7:26241202-26241211
41	CHD1	chr7:26235855-26242752	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:26238834-26242876	HepG2	liver:	n/a	n/a
43	POLR2A	chr7:26238870-26242222	HL-60	blood:	n/a	n/a
44	MAZ	chr7:26238871-26242525	K562	blood:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
45	REST	chr7:26240602-26241634	PFSK-1	brain:	n/a	chr7:26241562-26241572
46	MAZ	chr7:26238926-26242354	IMR90	lung:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
47	POLR2A	chr7:26241266-26241558	HepG2	liver:	n/a	n/a
48	ZC3H11A	chr7:26241369-26241538	K562	blood:	n/a	n/a
49	TEAD4	chr7:26239285-26241557	ECC-1	luminal epithelium:	n/a	n/a
50	HEY1	chr7:26238694-26242136	HepG2	liver:	n/a	chr7:26241839-26241854 chr7:26242035-26242050 chr7:26241887-26241902

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:26241504-26241554	NH-A	brain:	n/a
2	chr7:26241504-26241554	T-47D	breast:	n/a
3	chr7:26241504-26241554	LNCaP	prostate:	n/a
4	chr7:26241504-26241554	GM12892	blood:	n/a
5	chr7:26241504-26241554	ovcar-3	ovarian:	n/a
6	chr7:26241504-26241554	AG10803	skin:	n/a
7	chr7:26241504-26241554	ECC-1	luminal epithelium:	n/a
8	chr7:26241504-26241554	HCPEpiC	choroid plexus:	n/a
9	chr7:26241504-26241554	HL-60	blood:	n/a
10	chr7:26241504-26241554	SK-N-MC	brain:	n/a
11	chr7:26241504-26241554	AG04449	skin:	fetal
12	chr7:26241504-26241554	IMR90	lung:	fetal
13	chr7:26241504-26241554	AG04450	lung:	fetal
14	chr7:26241504-26241554	HRE	kidney:	n/a
15	chr7:26241504-26241554	HMEC	breast:	n/a
16	chr7:26241504-26241554	HUVEC	blood vessel:	n/a
17	chr7:26241504-26241554	BE2_C	brain:	n/a
18	chr7:26241504-26241554	CMK	blood:	n/a
19	chr7:26241504-26241554	ProgFib	skin:	n/a
20	chr7:26241504-26241554	GM06990	blood:	n/a
21	chr7:26241504-26241554	NHBE	bronchial:	n/a
22	chr7:26241504-26241554	Hepatocyte	liver:	n/a
23	chr7:26241504-26241554	HPAEpiC	pulmonary alveolar:	n/a
24	chr7:26241504-26241554	HNPCEpiC	eye:	n/a
25	chr7:26241504-26241554	HepG2	liver:	n/a
26	chr7:26241504-26241554	HEEpiC	esophagus:	n/a
27	chr7:26241504-26241554	SKMC	muscle:	n/a
28	chr7:26241504-26241554	AG09319	gingival:	n/a
29	chr7:26241504-26241554	RPTEC	kidney:	n/a
30	chr7:26241504-26241554	HEK293	kidney:	embryo
31	chr7:26241504-26241554	SAEC	small airway:	n/a
32	chr7:26241504-26241554	PrEC	prostate:	n/a
33	chr7:26241504-26241554	Hela-S3	cervix:	n/a
34	chr7:26241504-26241554	Jurkat	blood:	n/a
35	chr7:26241504-26241554	HRPEpiC	eye:	n/a
36	chr7:26241504-26241554	Caco-2	colon:	n/a
37	chr7:26241504-26241554	GM19239	blood:	n/a
38	chr7:26241504-26241554	AG09309	skin:	n/a
39	chr7:26241504-26241554	U87	brain:	n/a
40	chr7:26241504-26241554	NT2-D1	testis:	n/a
41	chr7:26241504-26241554	A549	lung:	n/a
42	chr7:26241504-26241554	NHDF-neo	bronchial:	n/a
43	chr7:26241504-26241554	HAEpiC	amniotic membrane:	n/a
44	chr7:26241504-26241554	HCM	heart:	n/a
45	chr7:26241504-26241554	SK-N-SH	brain:	n/a
46	chr7:26241504-26241554	NB4	blood:	n/a
47	chr7:26241504-26241554	MCF-7	breast:	n/a
48	chr7:26241504-26241554	PFSK-1	brain:	n/a
49	chr7:26241504-26241554	HCT-116	colon:	n/a
50	chr7:26241504-26241554	K562	blood:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6988415..6989407-chr7:26241102..26241602,2	Hela-S3	cervix:
2	chr17:78518626..78519126-chr7:26241370..26242337,2	NB4	blood:
3	chr7:26096714..26102069-chr7:26240159..26243560,6	MCF-7	breast:
4	chr7:26238789..26244149-chr7:26328226..26335284,15	MCF-7	breast:
5	chr7:26239911..26241819-chr7:26331558..26335355,4	K562	blood:
6	chr19:49468169..49468865-chr7:26241008..26241813,2	Hela-S3	cervix:
7	chr7:26240189..26242389-chr7:26313126..26315933,2	MCF-7	breast:
8	chr18:51750567..51751362-chr7:26240989..26241524,2	Hela-S3	cervix:
9	chr7:26241333..26241864-chrX:15692264..15693108,2	NB4	blood:
10	chr15:90727689..90728302-chr7:26241257..26241880,2	Hela-S3	cervix:
11	chr7:26238011..26242916-chr7:26400117..26407916,12	MCF-7	breast:
12	chr17:56707690..56710549-chr7:26238057..26243004,5	MCF-7	breast:
13	chr7:26190149..26194223-chr7:26238891..26242307,10	MCF-7	breast:
14	chr19:15487333..15489942-chr7:26241262..26242793,2	MCF-7	breast:
15	chr7:26238219..26243115-chr7:26329445..26335775,8	MCF-7	breast:
16	chr19:34745443..34746157-chr7:26241322..26241946,2	Hela-S3	cervix:
17	chr7:26188281..26195881-chr7:26237249..26245873,15	K562	blood:
18	chr7:26240504..26242868-chr7:26414665..26416985,3	MCF-7	breast:
19	chr7:26191482..26195412-chr7:26238481..26241782,5	MCF-7	breast:
20	chr11:313579..314474-chr7:26240970..26241885,3	NB4	blood:

No data

Variant related genes	Relation type
CBX3	TF binding region
HNRNPA2B1	TF binding region
CBX3	CpG island
HNRNPA2B1	CpG island
ENSG00000141564	Chromatin interaction
ENSG00000232383	Chromatin interaction
ENSG00000186312	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000132405	Chromatin interaction
ENSG00000268189	Chromatin interaction
ENSG00000266430	Chromatin interaction
ENSG00000185885	Chromatin interaction
ENSG00000166398	Chromatin interaction
ENSG00000086300	Chromatin interaction
ENSG00000087086	Chromatin interaction
ENSG00000185033	Chromatin interaction
ENSG00000050344	Chromatin interaction
ENSG00000134046	Chromatin interaction
ENSG00000225792	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv887850	chr7:26236235-26244365	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
4	nsv887851	chr7:26236235-26248965	Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
5	nsv606459	chr7:26236933-26243108	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	139 gene(s)	inside rSNPs	n/a
6	nsv887852	chr7:26236933-26244365	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
7	nsv887853	chr7:26236933-26248965	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
8	nsv887854	chr7:26238100-26248965	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	136 gene(s)	inside rSNPs	n/a
9	nsv606460	chr7:26239704-26243108	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	131 gene(s)	inside rSNPs	n/a
10	esv3353820	chr7:26241388-26242640	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26233400-26242800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:26236200-26245200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:26236600-26243600	Active TSS	Right Ventricle	heart
4	chr7:26236800-26242600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:26237000-26243000	Active TSS	Ovary	ovary
6	chr7:26237000-26243600	Active TSS	Aorta	Aorta
7	chr7:26237000-26244400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:26237000-26245400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:26237200-26242200	Active TSS	Monocytes-CD14+_RO01746	blood
10	chr7:26237200-26242400	Active TSS	Colonic Mucosa	Colon
11	chr7:26237200-26242800	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr7:26237200-26243400	Active TSS	Fetal Muscle Leg	muscle
13	chr7:26237200-26244000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:26237200-26244400	Active TSS	Fetal Intestine Small	intestine
15	chr7:26237200-26244800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr7:26237200-26245000	Active TSS	Thymus	Thymus
17	chr7:26237400-26242600	Active TSS	Brain Angular Gyrus	brain
18	chr7:26237400-26242600	Active TSS	Brain Anterior Caudate	brain
19	chr7:26237400-26242600	Active TSS	Brain Hippocampus Middle	brain
20	chr7:26237400-26242600	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr7:26237400-26242600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr7:26237400-26242600	Active TSS	Fetal Kidney	kidney
23	chr7:26237400-26242600	Active TSS	Stomach Smooth Muscle	stomach
24	chr7:26237400-26242600	Active TSS	NHLF	lung
25	chr7:26237400-26242800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:26237400-26243000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:26237400-26243000	Active TSS	Rectal Smooth Muscle	rectum
28	chr7:26237400-26243400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:26237400-26244000	Active TSS	Duodenum Mucosa	Duodenum
30	chr7:26237400-26244000	Active TSS	Fetal Intestine Large	intestine
31	chr7:26237400-26244200	Active TSS	Fetal Stomach	stomach
32	chr7:26237400-26244200	Active TSS	Psoas Muscle	Psoas
33	chr7:26237400-26244600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr7:26237400-26244600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:26237400-26244800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:26237600-26242200	Active TSS	Liver	Liver
37	chr7:26237600-26242400	Active TSS	Primary monocytes fromperipheralblood	blood
38	chr7:26237600-26242400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:26237600-26242400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr7:26237600-26242400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:26237600-26242400	Active TSS	Adipose Nuclei	Adipose
42	chr7:26237600-26242400	Active TSS	Brain Cingulate Gyrus	brain
43	chr7:26237600-26242400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:26237600-26242400	Active TSS	Brain Substantia Nigra	brain
45	chr7:26237600-26242400	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr7:26237600-26242600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr7:26237600-26242600	Active TSS	Placenta	Placenta
48	chr7:26237600-26242600	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr7:26237600-26242600	Active TSS	Osteobl	bone
50	chr7:26237600-26242800	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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