Variant report

Variant	rs181492505
Chromosome Location	chr7:150822704-150822705
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	TEAD4	chr7:150822615-150823061	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr7:150822620-150822770	BJ	skin:	n/a	n/a
3	CTCF	chr7:150822600-150822750	HVMF	connective:	n/a	n/a
4	CTCF	chr7:150822560-150822710	HA-sp	spinal cord:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
5	CTCF	chr7:150822620-150822770	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr7:150822700-150822850	HCM	heart:	n/a	n/a
7	ZBTB7A	chr7:150822538-150823920	ECC-1	luminal epithelium:	n/a	n/a
8	CTCF	chr7:150822560-150822710	HFF	foreskin:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
9	SP1	chr7:150822612-150823068	H1-hESC	embryonic stem cell:	n/a	chr7:150822825-150822836 chr7:150822686-150822698 chr7:150822687-150822696 chr7:150822687-150822697 chr7:150822683-150822697 chr7:150822827-150822836 chr7:150822688-150822697 chr7:150822787-150822798 chr7:150822826-150822840 chr7:150822686-150822698 chr7:150822688-150822697 chr7:150822687-150822697
10	CTCF	chr7:150822521-150822775	H1-hESC	embryonic stem cell:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
11	REST	chr7:150822519-150823712	H1-neurons	neurons:	n/a	chr7:150823641-150823654 chr7:150823126-150823136
12	SP1	chr7:150822530-150823100	H1-hESC	embryonic stem cell:	n/a	chr7:150822825-150822836 chr7:150822686-150822698 chr7:150822687-150822696 chr7:150822687-150822697 chr7:150822683-150822697 chr7:150822827-150822836 chr7:150822688-150822697 chr7:150822787-150822798 chr7:150822826-150822840 chr7:150822686-150822698 chr7:150822688-150822697 chr7:150822687-150822697
13	JUND	chr7:150822573-150822998	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr7:150822560-150822710	HVMF	connective:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
15	CTCF	chr7:150822500-150822790	NHEK	skin:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
16	CTCF	chr7:150822560-150822710	HBMEC	blood vessel:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
17	CTCF	chr7:150822509-150822779	Pancreas_OC	pancreas:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
18	CHD2	chr7:150822682-150823016	H1-hESC	embryonic stem cell:	n/a	chr7:150822688-150822698 chr7:150822827-150822837
19	CTCF	chr7:150822600-150822750	HEEpiC	esophagus:	n/a	n/a
20	MXI1	chr7:150822604-150823041	H1-hESC	embryonic stem cell:	n/a	n/a
21	EP300	chr7:150822577-150823055	H1-hESC	embryonic stem cell:	n/a	chr7:150822591-150822607 chr7:150823019-150823035 chr7:150822830-150822846
22	CTCF	chr7:150822580-150822730	WI-38	lung:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
23	CTCF	chr7:150822580-150822730	AG04450	lung:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
24	CTCF	chr7:150822580-150822730	NHLF	lung:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
25	TBP	chr7:150822604-150822957	H1-hESC	embryonic stem cell:	n/a	n/a
26	RAD21	chr7:150822532-150822800	H1-hESC	embryonic stem cell:	n/a	chr7:150822597-150822607 chr7:150822591-150822605 chr7:150822595-150822608
27	ESR1	chr7:150822561-150823328	ECC-1	luminal epithelium:	n/a	n/a
28	TEAD4	chr7:150822616-150823045	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr7:150822580-150822730	NHDF-neo	bronchial:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
30	CTCF	chr7:150822580-150822730	AG09309	skin:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
31	CTBP2	chr7:150822445-150823067	H1-hESC	embryonic stem cell:	n/a	n/a
32	ESR1	chr7:150822622-150823454	ECC-1	luminal epithelium:	n/a	n/a
33	GABPA	chr7:150822486-150823109	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr7:150822549-150823148	ECC-1	luminal epithelium:	n/a	n/a
35	CTCF	chr7:150822558-150822741	NHEK	skin:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
36	CTCF	chr7:150822580-150822730	AG04449	skin:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
37	CTCF	chr7:150822408-150823022	H1-hESC	embryonic stem cell:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
38	TCF12	chr7:150822421-150823152	ECC-1	luminal epithelium:	n/a	chr7:150822593-150822600 chr7:150822729-150822737
39	ZNF143	chr7:150822551-150823091	H1-hESC	embryonic stem cell:	n/a	n/a
40	SIN3AK20	chr7:150822422-150823158	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr7:150822498-150822798	H1-hESC	embryonic stem cell:	n/a	n/a
42	YY1	chr7:150822547-150822968	H1-hESC	embryonic stem cell:	n/a	chr7:150822935-150822944 chr7:150822742-150822753
43	CTCF	chr7:150822560-150822710	HepG2	liver:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
44	ZNF263	chr7:150822493-150822718	HEK293-T-REx	kidney:	n/a	n/a
45	CTCF	chr7:150822580-150822730	BJ	skin:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
46	YY1	chr7:150822548-150823068	ECC-1	luminal epithelium:	n/a	chr7:150822935-150822944 chr7:150822742-150822753
47	YY1	chr7:150822553-150823115	H1-hESC	embryonic stem cell:	n/a	chr7:150822935-150822944 chr7:150822742-150822753
48	MAX	chr7:150822405-150823631	H1-hESC	embryonic stem cell:	n/a	chr7:150823249-150823259
49	EP300	chr7:150822447-150823203	ECC-1	luminal epithelium:	n/a	chr7:150823179-150823195 chr7:150822591-150822607 chr7:150823019-150823035 chr7:150822830-150822846
50	TCF12	chr7:150822432-150823192	ECC-1	luminal epithelium:	n/a	chr7:150822593-150822600 chr7:150822729-150822737

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150822655-150822705	AG10803	skin:	n/a
2	chr7:150822655-150822705	BE2_C	brain:	n/a
3	chr7:150822655-150822705	HEEpiC	esophagus:	n/a
4	chr7:150822655-150822705	ECC-1	luminal epithelium:	n/a
5	chr7:150822655-150822705	MCF-7	breast:	n/a
6	chr7:150822655-150822705	AG09319	gingival:	n/a
7	chr7:150822655-150822705	CMK	blood:	n/a
8	chr7:150822655-150822705	HUVEC	blood vessel:	n/a
9	chr7:150822655-150822705	HCT-116	colon:	n/a
10	chr7:150822655-150822705	GM19239	blood:	n/a
11	chr7:150822655-150822705	Jurkat	blood:	n/a
12	chr7:150822655-150822705	NHBE	bronchial:	n/a
13	chr7:150822655-150822705	SAEC	small airway:	n/a
14	chr7:150822655-150822705	T-47D	breast:	n/a
15	chr7:150822655-150822705	HIPEpiC	eye:	n/a
16	chr7:150822655-150822705	RPTEC	kidney:	n/a
17	chr7:150822655-150822705	Hela-S3	cervix:	n/a
18	chr7:150822655-150822705	PrEC	prostate:	n/a
19	chr7:150822655-150822705	HRCEpiC	kidney:	n/a
20	chr7:150822655-150822705	HEK293	kidney:	embryo
21	chr7:150822655-150822705	GM06990	blood:	n/a
22	chr7:150822655-150822705	AoSMC	blood vessel:	n/a
23	chr7:150822655-150822705	NH-A	brain:	n/a
24	chr7:150822655-150822705	NB4	blood:	n/a
25	chr7:150822655-150822705	HCF	heart:	n/a
26	chr7:150822655-150822705	HRE	kidney:	n/a
27	chr7:150822655-150822705	HCM	heart:	n/a
28	chr7:150822655-150822705	GM12891	blood:	n/a
29	chr7:150822655-150822705	HCPEpiC	choroid plexus:	n/a
30	chr7:150822655-150822705	ovcar-3	ovarian:	n/a
31	chr7:150822655-150822705	PANC-1	pancreas:	n/a
32	chr7:150822655-150822705	AG09309	skin:	n/a
33	chr7:150822655-150822705	PFSK-1	brain:	n/a
34	chr7:150822655-150822705	GM12892	blood:	n/a
35	chr7:150822655-150822705	HL-60	blood:	n/a
36	chr7:150822655-150822705	SKMC	muscle:	n/a
37	chr7:150822655-150822705	HPAEpiC	pulmonary alveolar:	n/a
38	chr7:150822655-150822705	SK-N-MC	brain:	n/a
39	chr7:150822655-150822705	IMR90	lung:	fetal
40	chr7:150822655-150822705	NHDF-neo	bronchial:	n/a
41	chr7:150822655-150822705	SK-N-SH	brain:	n/a
42	chr7:150822655-150822705	ProgFib	skin:	n/a
43	chr7:150822655-150822705	SK-N-SH_RA	brain:	n/a
44	chr7:150822655-150822705	HAEpiC	amniotic membrane:	n/a
45	chr7:150822655-150822705	Caco-2	colon:	n/a
46	chr7:150822655-150822705	HNPCEpiC	eye:	n/a
47	chr7:150822655-150822705	BJ	skin:	n/a
48	chr7:150822655-150822705	U87	brain:	n/a
49	chr7:150822655-150822705	HMEC	breast:	n/a
50	chr7:150822655-150822705	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150821781..150824555-chr7:150874826..150877607,2	K562	blood:
2	chr7:150822023..150822998-chr7:151000299..151001077,2	MCF-7	breast:
3	chr7:150822692..150823787-chr7:150869509..150870193,3	MCF-7	breast:
4	chr7:150821997..150823437-chr7:150869432..150870307,6	MCF-7	breast:
5	chr7:150820949..150822720-chr7:150827782..150829322,2	MCF-7	breast:

Variant related genes	Relation type
AGAP3	TF binding region
AGAP3	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
4	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
6	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
9	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
10	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised 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	41 gene(s)	inside rSNPs	diseases
11	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh 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	48 gene(s)	inside rSNPs	diseases
13	nsv609025	chr7:150811765-150825087	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv527369	chr7:150822192-150825087	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv523930	chr7:150822192-150830015	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv528732	chr7:150822192-150832913	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150812400-150829600	Weak transcription	Small Intestine	intestine
2	chr7:150812600-150839800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:150813000-150840400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:150813000-150843800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:150813400-150822800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:150814000-150828600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:150814000-150842600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:150814200-150839800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:150814600-150822800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr7:150814600-150825000	Weak transcription	Thymus	Thymus
11	chr7:150814800-150825200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr7:150814800-150839800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:150815000-150823000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:150815600-150833600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:150815600-150843400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr7:150816200-150844000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:150818400-150826600	Weak transcription	HSMMtube	muscle
18	chr7:150819200-150822800	Weak transcription	Aorta	Aorta
19	chr7:150819400-150827600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:150820200-150822800	Strong transcription	A549	lung
21	chr7:150820400-150824200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr7:150820400-150842400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:150820800-150822800	Strong transcription	HMEC	breast
24	chr7:150821400-150823000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:150821400-150823000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:150821400-150823000	Strong transcription	Hela-S3	cervix
27	chr7:150821400-150825000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:150821400-150825600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:150821600-150825400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr7:150821600-150833600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:150822000-150823000	Enhancers	Stomach Mucosa	stomach
32	chr7:150822000-150825000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr7:150822200-150822800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:150822200-150822800	Genic enhancers	Brain Inferior Temporal Lobe	brain
35	chr7:150822200-150822800	Enhancers	Fetal Kidney	kidney
36	chr7:150822200-150823000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:150822200-150823400	Genic enhancers	Lung	lung
38	chr7:150822200-150823600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr7:150822400-150822800	Genic enhancers	Muscle Satellite Cultured Cells	--
40	chr7:150822400-150822800	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr7:150822400-150822800	Flanking Active TSS	Right Ventricle	heart
42	chr7:150822400-150822800	Strong transcription	GM12878-XiMat	blood
43	chr7:150822400-150823000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr7:150822400-150823000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:150822400-150823000	Flanking Active TSS	Colonic Mucosa	Colon
46	chr7:150822400-150823000	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr7:150822400-150823000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr7:150822400-150823000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr7:150822400-150823000	Flanking Active TSS	NHEK	skin
50	chr7:150822400-150823200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin

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