Variant report

Variant	rs528308163
Chromosome Location	chr19:37464186-37464187
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	CTCF	chr19:37464127-37464551	Spleen_OC	spleen:	n/a	n/a
2	CTCF	chr19:37464143-37464552	GM19238	blood:	n/a	n/a
3	POLR2A	chr19:37463700-37464602	PANC-1	pancreas:	n/a	n/a
4	MAX	chr19:37464183-37464663	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr19:37463807-37464715	IMR90	lung:	n/a	n/a
6	CTCF	chr19:37464083-37464601	T-47D	breast:	n/a	n/a
7	MYC	chr19:37464182-37464467	MCF-7	breast:	n/a	n/a
8	RAD21	chr19:37463702-37465035	SK-N-SH	brain:	n/a	chr19:37464972-37464982 chr19:37464403-37464415 chr19:37464202-37464214 chr19:37464398-37464417 chr19:37464053-37464063 chr19:37464403-37464413 chr19:37464013-37464026
9	CTCF	chr19:37464178-37464507	MCF-7	breast:	n/a	n/a
10	JUN	chr19:37464170-37464456	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr19:37464156-37464494	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZNF143	chr19:37463842-37464571	H1-hESC	embryonic stem cell:	n/a	chr19:37464045-37464054 chr19:37464043-37464052 chr19:37463958-37463977 chr19:37464047-37464066 chr19:37464043-37464061
13	MAX	chr19:37463887-37464649	MCF-7	breast:	n/a	n/a
14	CTCF	chr19:37464142-37464521	Lung_OC	lung:	n/a	n/a
15	CTCF	chr19:37464183-37464490	K562	blood:	n/a	n/a
16	GABPA	chr19:37463645-37464599	MCF-7	breast:	n/a	n/a
17	ZNF143	chr19:37463863-37464495	GM12878	blood:	n/a	chr19:37464045-37464054 chr19:37464043-37464052 chr19:37463958-37463977 chr19:37464047-37464066 chr19:37464043-37464061
18	CTCF	chr19:37464093-37464514	T-47D	breast:	n/a	n/a
19	SIN3AK20	chr19:37464159-37464529	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr19:37463950-37464629	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr19:37464098-37464459	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr19:37464022-37464522	HL-60	blood:	n/a	n/a
23	CTCF	chr19:37463896-37464586	H1-hESC	embryonic stem cell:	n/a	chr19:37464018-37464027 chr19:37464014-37464027
24	POLR2A	chr19:37463760-37464649	ProgFib	skin:	n/a	n/a
25	MAZ	chr19:37463833-37465313	IMR90	lung:	n/a	chr19:37464706-37464716
26	POLR2A	chr19:37463838-37464589	GM18505	blood:	n/a	n/a
27	RAD21	chr19:37464102-37464641	SK-N-SH_RA	brain:	n/a	chr19:37464403-37464415 chr19:37464202-37464214 chr19:37464398-37464417 chr19:37464403-37464413
28	GABPA	chr19:37463837-37464638	SK-N-SH	brain:	n/a	n/a
29	CTCF	chr19:37464144-37464544	ProgFib	skin:	n/a	n/a
30	CTCF	chr19:37464024-37464598	GM12878	blood:	n/a	n/a
31	CTCF	chr19:37464135-37464544	NHEK	skin:	n/a	n/a
32	GABPA	chr19:37463780-37464554	MCF-7	breast:	n/a	n/a
33	MXI1	chr19:37464064-37464377	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr19:37463883-37464374	GM15510	blood:	n/a	n/a
35	ZNF143	chr19:37463935-37464346	K562	blood:	n/a	chr19:37464045-37464054 chr19:37464043-37464052 chr19:37463958-37463977 chr19:37464047-37464066 chr19:37464043-37464061
36	CTCF	chr19:37464177-37464517	MCF-7	breast:	n/a	n/a
37	CTCF	chr19:37464142-37464500	SK-N-SH_RA	brain:	n/a	n/a
38	ELF1	chr19:37463842-37464638	MCF-7	breast:	n/a	n/a
39	TEAD4	chr19:37464143-37464571	H1-hESC	embryonic stem cell:	n/a	n/a
40	TAF1	chr19:37463846-37464471	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr19:37464071-37464593	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr19:37464049-37464585	IMR90	lung:	n/a	n/a
43	MAZ	chr19:37464134-37464460	GM12878	blood:	n/a	n/a
44	YY1	chr19:37464184-37464540	SK-N-SH_RA	brain:	n/a	n/a
45	RAD21	chr19:37464116-37464616	H1-hESC	embryonic stem cell:	n/a	chr19:37464403-37464415 chr19:37464202-37464214 chr19:37464398-37464417 chr19:37464403-37464413
46	MAX	chr19:37464112-37464677	H1-hESC	embryonic stem cell:	n/a	n/a
47	GABPA	chr19:37463853-37464559	SK-N-SH	brain:	n/a	n/a
48	CTCF	chr19:37463699-37465010	SK-N-SH	brain:	n/a	chr19:37464018-37464027 chr19:37464014-37464027
49	CTCF	chr19:37464178-37464519	MCF-7	breast:	n/a	n/a
50	CTCF	chr19:37464048-37464506	Kidney_OC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37463031..37465781-chr19:37707432..37709239,2	MCF-7	breast:

Variant related genes	Relation type
ZNF568	TF binding region
ENSG00000245680	Chromatin interaction
ENSG00000188283	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	nsv523848	chr19:37357289-37487632	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
14	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
15	nsv579463	chr19:37437106-37488055	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
16	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
17	esv1828064	chr19:37463270-37467305	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
18	esv1808096	chr19:37463582-37464848	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37463200-37464200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:37463200-37464200	Active TSS	Colonic Mucosa	Colon
3	chr19:37463200-37464600	Active TSS	Brain Angular Gyrus	brain
4	chr19:37463200-37464600	Active TSS	Brain Anterior Caudate	brain
5	chr19:37463200-37464600	Active TSS	Brain Cingulate Gyrus	brain
6	chr19:37463200-37464600	Active TSS	Placenta Amnion	Placenta Amnion
7	chr19:37463200-37464600	Active TSS	NHEK	skin
8	chr19:37463200-37464800	Active TSS	Fetal Intestine Small	intestine
9	chr19:37463200-37465000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr19:37463200-37465000	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr19:37463200-37465200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr19:37463200-37465200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
13	chr19:37463400-37464400	Active TSS	Brain Hippocampus Middle	brain
14	chr19:37463400-37464400	ZNF genes & repeats	Fetal Thymus	thymus
15	chr19:37463400-37464400	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr19:37463400-37464600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr19:37463400-37464600	Active TSS	Primary T cells from cord blood	blood
18	chr19:37463400-37464600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:37463400-37464600	Active TSS	Psoas Muscle	Psoas
20	chr19:37463400-37464600	Active TSS	Rectal Smooth Muscle	rectum
21	chr19:37463400-37464600	Active TSS	Right Atrium	heart
22	chr19:37463400-37464800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:37463400-37464800	Active TSS	HSMMtube	muscle
24	chr19:37463400-37465000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:37463400-37465000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:37463400-37465000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr19:37463400-37465000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:37463400-37465000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:37463400-37465000	Active TSS	Fetal Intestine Large	intestine
30	chr19:37463400-37465000	Active TSS	Osteobl	bone
31	chr19:37463400-37465200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:37463400-37465200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:37463400-37465200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr19:37463400-37465200	Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr19:37463400-37465200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr19:37463400-37465200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:37463400-37465200	ZNF genes & repeats	Lung	lung
38	chr19:37463400-37465400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr19:37463400-37465400	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr19:37463600-37464200	Active TSS	Gastric	stomach
41	chr19:37463600-37464600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:37463600-37464600	Active TSS	Muscle Satellite Cultured Cells	--
43	chr19:37463600-37464600	Active TSS	Brain Substantia Nigra	brain
44	chr19:37463600-37464600	Active TSS	Esophagus	oesophagus
45	chr19:37463600-37464600	Active TSS	Fetal Lung	lung
46	chr19:37463600-37464600	Active TSS	Ovary	ovary
47	chr19:37463600-37464600	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr19:37463600-37464800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr19:37463600-37464800	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr19:37463600-37464800	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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