Variant report

Variant	rs2967473
Chromosome Location	chr19:36981218-36981219
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	chr19:36979648-36981467	GM12892	blood:	n/a	n/a
2	POLR2A	chr19:36979662-36981378	GM12892	blood:	n/a	n/a
3	MTA3	chr19:36979706-36981445	GM12878	blood:	n/a	n/a
4	EP300	chr19:36980114-36981242	GM12878	blood:	n/a	chr19:36981192-36981202
5	ZBTB33	chr19:36979660-36981331	A549	lung:	n/a	chr19:36980475-36980490
6	BCL3	chr19:36979628-36981249	A549	lung:	n/a	chr19:36981235-36981244 chr19:36980891-36980904
7	STAT5A	chr19:36980758-36981335	GM12878	blood:	n/a	chr19:36981233-36981244
8	POLR2A	chr19:36979663-36981312	HUVEC	blood vessel:	n/a	n/a
9	RELA	chr19:36980037-36981291	GM10847	blood:	n/a	n/a
10	HCFC1	chr19:36979141-36981381	Hela-S3	cervix:	n/a	n/a
11	MAZ	chr19:36980006-36981308	GM12878	blood:	n/a	chr19:36980143-36980150 chr19:36980140-36980155 chr19:36980143-36980152 chr19:36980142-36980151 chr19:36980350-36980360 chr19:36980138-36980153 chr19:36980142-36980152
12	POLR2A	chr19:36979736-36981466	HepG2	liver:	n/a	n/a
13	POLR2A	chr19:36979728-36981268	GM12878	blood:	n/a	n/a
14	PAX5	chr19:36981061-36981722	GM12878	blood:	n/a	chr19:36981235-36981244
15	TCF12	chr19:36980944-36981276	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:36979889-36981256	GM18951	blood:	n/a	n/a
17	ELF1	chr19:36979713-36981312	GM12878	blood:	n/a	chr19:36980344-36980356
18	GATA1	chr19:36979682-36981264	PBDE	blood:	n/a	chr19:36980877-36980886 chr19:36981083-36981092 chr19:36980877-36980887 chr19:36980877-36980886 chr19:36981218-36981228 chr19:36980868-36980885
19	TAF1	chr19:36980975-36981258	GM12891	blood:	n/a	n/a
20	TCF3	chr19:36980994-36981328	GM12878	blood:	n/a	chr19:36981169-36981183
21	CREB1	chr19:36979724-36981245	HepG2	liver:	n/a	n/a
22	PML	chr19:36979818-36981479	GM12878	blood:	n/a	n/a
23	REST	chr19:36979583-36981346	H1-neurons	neurons:	n/a	chr19:36980350-36980363
24	BCLAF1	chr19:36979639-36981344	GM12878	blood:	n/a	chr19:36981235-36981244 chr19:36980891-36980904
25	POLR2A	chr19:36979836-36981227	GM19193	blood:	n/a	n/a
26	TCF12	chr19:36979647-36981335	A549	lung:	n/a	n/a
27	USF1	chr19:36979607-36981390	A549	lung:	n/a	n/a
28	POLR2A	chr19:36979945-36981304	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr19:36979839-36981322	GM12878	blood:	n/a	n/a
30	PAX5	chr19:36980883-36981873	GM12878	blood:	n/a	chr19:36981235-36981244
31	EP300	chr19:36979765-36981363	GM12878	blood:	n/a	chr19:36981192-36981202 chr19:36981235-36981249
32	TBP	chr19:36979799-36981389	GM12878	blood:	n/a	n/a
33	MXI1	chr19:36979247-36981270	IMR90	lung:	n/a	n/a
34	POLR2A	chr19:36979584-36981359	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr19:36979759-36981359	GM12891	blood:	n/a	n/a
36	POLR2A	chr19:36979933-36981251	GM18526	blood:	n/a	n/a
37	RUNX3	chr19:36979629-36981284	GM12878	blood:	n/a	n/a
38	POLR2A	chr19:36979672-36981237	SK-N-MC	brain:	n/a	n/a
39	POLR2A	chr19:36979825-36981336	GM18505	blood:	n/a	n/a
40	TBL1XR1	chr19:36979832-36981252	GM12878	blood:	n/a	n/a
41	TAF1	chr19:36980930-36981359	GM12878	blood:	n/a	n/a
42	POLR2A	chr19:36979840-36981293	GM12892	blood:	n/a	n/a
43	RELA	chr19:36979851-36981275	GM15510	blood:	n/a	n/a
44	POLR2A	chr19:36979789-36981247	PBDE	blood:	n/a	n/a
45	ZBTB33	chr19:36979700-36981266	SK-N-SH	brain:	n/a	chr19:36980475-36980490
46	RCOR1	chr19:36980165-36981311	GM12878	blood:	n/a	n/a
47	MXI1	chr19:36979720-36981317	GM12878	blood:	n/a	n/a
48	TCF3	chr19:36980924-36981234	GM12878	blood:	n/a	chr19:36981169-36981183
49	POLR2A	chr19:36979873-36981287	GM12891	blood:	n/a	n/a
50	CREB1	chr19:36979761-36981359	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36979193..36981748-chr19:37061672..37065426,4	K562	blood:
2	chr19:36979208..36981780-chr19:37261367..37264210,2	K562	blood:
3	chr19:36979323..36981752-chr19:37018816..37021173,2	MCF-7	breast:
4	chr19:36979379..36982047-chr19:37063909..37066157,2	K562	blood:
5	chr19:36979124..36982554-chr19:37017679..37020247,4	MCF-7	breast:
6	chr19:36978148..36981795-chr19:37018105..37021194,8	K562	blood:
7	chr19:36978237..36981428-chr19:36988174..36990245,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC092295.7.1-5	chr19:36980765-36981410	NONHSAT066005

Variant related genes	Relation type
ZNF566	TF binding region
ENSG00000228629	Chromatin interaction
ENSG00000186020	Chromatin interaction
ENSG00000254004	Chromatin interaction
ENSG00000267260	Chromatin interaction
ENSG00000267041	Chromatin interaction
ENSG00000233527	Chromatin interaction
ENSG00000267091	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1035777	0.95[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap]
rs10402182	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs11084861	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.94[TSI][hapmap]
rs17272386	0.95[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs2052728	0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2162296	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs2194976	0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2912399	0.81[ASN][1000 genomes]
rs2912400	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2912404	0.81[ASN][1000 genomes]
rs2912408	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2912412	0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2912440	0.81[ASN][1000 genomes]
rs2912442	0.82[ASN][1000 genomes]
rs2912443	0.82[ASN][1000 genomes]
rs2912444	0.95[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2912446	0.95[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2945964	0.82[ASN][1000 genomes]
rs2945978	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2967429	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs2967436	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs2967437	0.80[ASN][1000 genomes]
rs2967438	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2967439	0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs2967440	0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs2967442	0.95[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs2967459	0.95[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap]
rs2967463	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2967464	0.82[ASN][1000 genomes]
rs2967545	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3096620	0.95[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs3096637	0.82[ASN][1000 genomes]
rs3108593	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs3108605	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs6510551	0.81[ASN][1000 genomes]
rs7507224	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs8100381	0.95[CHB][hapmap];0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	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
3	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1067364	chr19:36921204-36985874	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	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
8	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36978400-36981400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:36979000-36981400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr19:36979000-36981400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr19:36979000-36981400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr19:36979000-36981400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr19:36979200-36981400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr19:36979200-36981400	Active TSS	Muscle Satellite Cultured Cells	--
8	chr19:36979200-36981400	Active TSS	Fetal Brain Female	brain
9	chr19:36979200-36981400	Active TSS	HSMM	muscle
10	chr19:36979400-36981400	Active TSS	H1 Cell Line	embryonic stem cell
11	chr19:36979400-36981400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:36979400-36981400	Active TSS	Fetal Intestine Large	intestine
13	chr19:36979400-36981400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr19:36979400-36981400	Active TSS	Right Ventricle	heart
15	chr19:36979400-36981400	Active TSS	Hela-S3	cervix
16	chr19:36979400-36981400	Active TSS	NHDF-Ad	bronchial
17	chr19:36979400-36981600	Active TSS	GM12878-XiMat	blood
18	chr19:36979600-36981400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:36979600-36981400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:36979600-36981400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:36979600-36981400	Active TSS	Fetal Intestine Small	intestine
22	chr19:36979600-36981400	Active TSS	Fetal Muscle Trunk	muscle
23	chr19:36979600-36981400	Active TSS	Placenta	Placenta
24	chr19:36979600-36981400	Active TSS	Fetal Thymus	thymus
25	chr19:36979600-36981400	Active TSS	Psoas Muscle	Psoas
26	chr19:36979600-36981400	Active TSS	A549	lung
27	chr19:36979600-36981600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr19:36979800-36981400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr19:36979800-36981400	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr19:36979800-36981600	Active TSS	Fetal Stomach	stomach
31	chr19:36980000-36981400	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr19:36980000-36981400	Active TSS	Brain Angular Gyrus	brain
33	chr19:36980000-36981400	Active TSS	Brain Anterior Caudate	brain
34	chr19:36980000-36981400	Active TSS	Fetal Lung	lung
35	chr19:36980000-36981400	Active TSS	Lung	lung
36	chr19:36980000-36981400	Active TSS	Thymus	Thymus
37	chr19:36980000-36981400	Active TSS	NHLF	lung
38	chr19:36980000-36981600	Active TSS	Duodenum Mucosa	Duodenum
39	chr19:36980200-36981400	Active TSS	Colonic Mucosa	Colon
40	chr19:36980200-36981400	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr19:36980200-36981400	Active TSS	NH-A	brain
42	chr19:36980200-36981600	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr19:36980600-36981400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr19:36980600-36981400	Active TSS	Brain Germinal Matrix	brain
45	chr19:36980800-36981400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr19:36980800-36981400	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr19:36980800-36981400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr19:36980800-36981400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr19:36980800-36981400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr19:36980800-36981400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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