Variant report

Variant	rs147395319
Chromosome Location	chr7:50861517-50861518
allele	C/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	POLR2A	chr7:50859051-50861836	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:50859765-50861894	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:50859987-50861577	K562	blood:	n/a	n/a
4	EGR1	chr7:50860389-50861531	K562	blood:	n/a	chr7:50860938-50860948 chr7:50861156-50861171 chr7:50860536-50860549
5	MAX	chr7:50860765-50861574	K562	blood:	n/a	chr7:50860937-50860947 chr7:50861424-50861434
6	ZNF263	chr7:50859053-50862355	HEK293-T-REx	kidney:	n/a	chr7:50861142-50861151
7	GATA1	chr7:50861381-50862027	PBDE	blood:	n/a	n/a
8	JUND	chr7:50861444-50861569	K562	blood:	n/a	n/a
9	BACH1	chr7:50861491-50861539	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr7:50861378-50861571	K562	blood:	n/a	chr7:50861424-50861434
11	POLR2A	chr7:50860331-50861572	A549	lung:	n/a	n/a
12	SIN3A	chr7:50861387-50861745	H1-hESC	embryonic stem cell:	n/a	chr7:50861409-50861420
13	POLR2A	chr7:50861204-50861543	ECC-1	luminal epithelium:	n/a	n/a
14	EGR1	chr7:50861012-50861540	K562	blood:	n/a	chr7:50861156-50861171
15	RCOR1	chr7:50860974-50861778	K562	blood:	n/a	n/a
16	ZBTB7A	chr7:50860213-50861527	K562	blood:	n/a	n/a
17	E2F6	chr7:50860560-50861524	K562	blood:	n/a	chr7:50860936-50860945
18	UBTF	chr7:50859275-50861683	K562	blood:	n/a	n/a
19	MAZ	chr7:50859892-50861717	IMR90	lung:	n/a	chr7:50860937-50860947 chr7:50860539-50860549 chr7:50861424-50861434 chr7:50860216-50860225
20	ZBTB7A	chr7:50861242-50861604	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr7:50860814-50861702	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr7:50859743-50861717	K562	blood:	n/a	n/a
23	POLR2A	chr7:50860507-50861710	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr7:50859908-50861577	HEK293	kidney:	n/a	n/a
25	TBL1XR1	chr7:50861476-50861586	K562	blood:	n/a	n/a
26	POLR2A	chr7:50861265-50861532	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr7:50859691-50861820	IMR90	lung:	n/a	n/a
28	TBP	chr7:50860932-50861802	K562	blood:	n/a	n/a
29	MYC	chr7:50859556-50861560	NB4	blood:	n/a	chr7:50860937-50860947 chr7:50860539-50860549 chr7:50860151-50860161 chr7:50861424-50861434 chr7:50860216-50860225
30	POLR2A	chr7:50860973-50861525	K562	blood:	n/a	n/a
31	HMGN3	chr7:50860160-50861618	K562	blood:	n/a	n/a
32	MAX	chr7:50859551-50861638	A549	lung:	n/a	chr7:50860937-50860947 chr7:50860539-50860549 chr7:50860151-50860161 chr7:50861424-50861434 chr7:50860216-50860225
33	E2F6	chr7:50860056-50861547	K562	blood:	n/a	chr7:50860936-50860945 chr7:50860536-50860546
34	EP300	chr7:50861349-50861541	K562	blood:	n/a	chr7:50861399-50861415
35	CCNT2	chr7:50860044-50861550	K562	blood:	n/a	chr7:50861156-50861165
36	YY1	chr7:50861201-50861648	K562	blood:	n/a	n/a
37	POLR2A	chr7:50861242-50861564	K562	blood:	n/a	n/a
38	UBTF	chr7:50859957-50861659	K562	blood:	n/a	n/a
39	SMC3	chr7:50859203-50861541	Hela-S3	cervix:	n/a	chr7:50861425-50861435 chr7:50860502-50860512
40	POLR2A	chr7:50860803-50861530	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr7:50860010-50861655	K562	blood:	n/a	n/a
42	POLR2A	chr7:50859660-50861567	K562	blood:	n/a	n/a
43	MYC	chr7:50859313-50861517	K562	blood:	n/a	chr7:50860937-50860947 chr7:50860539-50860549 chr7:50860151-50860161 chr7:50861424-50861434 chr7:50860216-50860225
44	POLR2A	chr7:50860010-50861588	K562	blood:	n/a	n/a
45	GABPA	chr7:50861298-50861696	H1-hESC	embryonic stem cell:	n/a	n/a
46	SMARCB1	chr7:50860133-50861687	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr7:50854537-50861857	HUVEC	blood vessel:	n/a	n/a
48	MAZ	chr7:50859876-50861806	K562	blood:	n/a	chr7:50860937-50860947 chr7:50860539-50860549 chr7:50861424-50861434 chr7:50860216-50860225

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:50861467-50861517	HEK293	kidney:	embryo
2	chr7:50861472-50861522	BE2_C	brain:	n/a
3	chr7:50861487-50861537	HUVEC	blood vessel:	n/a
4	chr7:50861472-50861522	ovcar-3	ovarian:	n/a
5	chr7:50861487-50861537	HL-60	blood:	n/a
6	chr7:50861467-50861517	AG04450	lung:	fetal
7	chr7:50861467-50861517	GM12891	blood:	n/a
8	chr7:50861487-50861537	HCF	heart:	n/a
9	chr7:50861472-50861522	HMEC	breast:	n/a
10	chr7:50861472-50861522	AG04450	lung:	fetal
11	chr7:50861472-50861522	AoSMC	blood vessel:	n/a
12	chr7:50861472-50861522	GM12892	blood:	n/a
13	chr7:50861472-50861522	HIPEpiC	eye:	n/a
14	chr7:50861467-50861517	SKMC	muscle:	n/a
15	chr7:50861472-50861522	PFSK-1	brain:	n/a
16	chr7:50861467-50861517	A549	lung:	n/a
17	chr7:50861472-50861522	CMK	blood:	n/a
18	chr7:50861487-50861537	U87	brain:	n/a
19	chr7:50861467-50861517	AG09319	gingival:	n/a
20	chr7:50861487-50861537	HEEpiC	esophagus:	n/a
21	chr7:50861472-50861522	Hela-S3	cervix:	n/a
22	chr7:50861472-50861522	HUVEC	blood vessel:	n/a
23	chr7:50861467-50861517	NHDF-neo	bronchial:	n/a
24	chr7:50861487-50861537	AG10803	skin:	n/a
25	chr7:50861472-50861522	SK-N-MC	brain:	n/a
26	chr7:50861487-50861537	A549	lung:	n/a
27	chr7:50861487-50861537	HIPEpiC	eye:	n/a
28	chr7:50861487-50861537	H1-hESC	embryonic stem cell:	embryo
29	chr7:50861472-50861522	GM12891	blood:	n/a
30	chr7:50861487-50861537	HPAEpiC	pulmonary alveolar:	n/a
31	chr7:50861487-50861537	NH-A	brain:	n/a
32	chr7:50861467-50861517	SK-N-SH	brain:	n/a
33	chr7:50861472-50861522	HRE	kidney:	n/a
34	chr7:50861467-50861517	Jurkat	blood:	n/a
35	chr7:50861487-50861537	ProgFib	skin:	n/a
36	chr7:50861487-50861537	ECC-1	luminal epithelium:	n/a
37	chr7:50861487-50861537	Jurkat	blood:	n/a
38	chr7:50861472-50861522	AG10803	skin:	n/a
39	chr7:50861467-50861517	BJ	skin:	n/a
40	chr7:50861487-50861537	AoSMC	blood vessel:	n/a
41	chr7:50861487-50861537	GM12892	blood:	n/a
42	chr7:50861487-50861537	RPTEC	kidney:	n/a
43	chr7:50861467-50861517	AG10803	skin:	n/a
44	chr7:50861467-50861517	GM12892	blood:	n/a
45	chr7:50861487-50861537	NHBE	bronchial:	n/a
46	chr7:50861467-50861517	NT2-D1	testis:	n/a
47	chr7:50861467-50861517	NH-A	brain:	n/a
48	chr7:50861487-50861537	HNPCEpiC	eye:	n/a
49	chr7:50861487-50861537	MCF-7	breast:	n/a
50	chr7:50861467-50861517	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:50820026..50825124-chr7:50858182..50862797,5	K562	blood:
2	chr7:50823624..50825816-chr7:50859906..50861742,2	K562	blood:
3	chr7:50861450..50863557-chr7:50891977..50893899,2	MCF-7	breast:
4	chr7:50799534..50801547-chr7:50859929..50861719,2	K562	blood:
5	chr7:50814324..50816744-chr7:50859392..50862105,3	K562	blood:

Variant related genes	Relation type
GRB10	TF binding region
GRB10	CpG island
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription 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	2 gene(s)	inside rSNPs	diseases
3	nsv538835	chr7:50839656-50867735	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv824092	chr7:50846084-50865531	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3440721	chr7:50859483-50862031	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3439656	chr7:50859783-50862481	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3377483	chr7:50859883-50862631	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50857200-50861800	Active TSS	Right Atrium	heart
2	chr7:50857400-50861800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:50858200-50861600	Active TSS	Left Ventricle	heart
4	chr7:50858800-50861800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:50858800-50861800	Active TSS	Pancreas	Pancrea
6	chr7:50859200-50861600	Active TSS	Lung	lung
7	chr7:50859200-50861800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:50859400-50861600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:50859400-50861600	Active TSS	Aorta	Aorta
10	chr7:50859400-50861600	Active TSS	Fetal Kidney	kidney
11	chr7:50859400-50861600	Active TSS	Ovary	ovary
12	chr7:50859400-50861600	Active TSS	Psoas Muscle	Psoas
13	chr7:50859400-50861600	Active TSS	Right Ventricle	heart
14	chr7:50859400-50861800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:50859400-50861800	Bivalent/Poised TSS	Thymus	Thymus
16	chr7:50859400-50861800	Bivalent/Poised TSS	HepG2	liver
17	chr7:50859400-50861800	Active TSS	HSMM	muscle
18	chr7:50859600-50861600	Active TSS	HSMMtube	muscle
19	chr7:50859600-50861800	Active TSS	H9 Cell Line	embryonic stem cell
20	chr7:50859600-50861800	Bivalent/Poised TSS	HMEC	breast
21	chr7:50859800-50861600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:50859800-50861600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:50859800-50861600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:50859800-50861600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:50859800-50861600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:50859800-50861600	Active TSS	A549	lung
27	chr7:50859800-50861800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:50859800-50861800	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr7:50859800-50861800	Active TSS	Gastric	stomach
30	chr7:50860000-50861600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:50860000-50861600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:50860000-50861600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:50860000-50861600	Active TSS	Muscle Satellite Cultured Cells	--
34	chr7:50860000-50861600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
35	chr7:50860000-50861600	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr7:50860000-50861600	Active TSS	Small Intestine	intestine
37	chr7:50860000-50861600	Active TSS	Stomach Smooth Muscle	stomach
38	chr7:50860000-50861600	Active TSS	NHLF	lung
39	chr7:50860000-50861800	Active TSS	Brain Anterior Caudate	brain
40	chr7:50860000-50862200	Bivalent/Poised TSS	NHEK	skin
41	chr7:50860200-50861600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:50860200-50861600	Active TSS	Primary B cells from cord blood	blood
43	chr7:50860200-50861600	Active TSS	Primary T cells from cord blood	blood
44	chr7:50860200-50861600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:50860200-50861600	Active TSS	Duodenum Mucosa	Duodenum
46	chr7:50860200-50861600	Weak transcription	Fetal Heart	heart
47	chr7:50860200-50861600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
48	chr7:50860200-50861600	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr7:50860200-50861800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:50860200-50861800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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