Variant report

Variant	rs3108206
Chromosome Location	chr19:37173603-37173604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:37171917..37174270-chr19:37177933..37180774,2	K562	blood:
2	chr19:37170168..37172761-chr19:37172837..37175354,2	MCF-7	breast:
3	chr19:37171965..37174267-chr19:37175474..37177630,2	K562	blood:

Variant related genes	Relation type
ENSG00000225975	Chromatin interaction
ENSG00000189042	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10402486	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10407386	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11084862	0.86[EUR][1000 genomes]
rs12610353	0.84[EUR][1000 genomes]
rs1830031	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2033077	0.86[AMR][1000 genomes]
rs2385643	0.86[AMR][1000 genomes]
rs3096617	0.81[AMR][1000 genomes]
rs3096618	0.81[AMR][1000 genomes]
rs3096619	0.81[AMR][1000 genomes]
rs3096622	0.83[AMR][1000 genomes]
rs3096623	0.83[AMR][1000 genomes]
rs3096627	0.83[AMR][1000 genomes]
rs3096628	0.83[AMR][1000 genomes]
rs3096630	0.85[AMR][1000 genomes]
rs3096631	0.86[AMR][1000 genomes]
rs3096632	0.86[AMR][1000 genomes]
rs3096636	0.81[AMR][1000 genomes]
rs3108166	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108167	0.86[AMR][1000 genomes]
rs3108168	0.86[AMR][1000 genomes]
rs3108172	0.85[AMR][1000 genomes]
rs3108174	0.86[AMR][1000 genomes]
rs3108179	0.84[EUR][1000 genomes]
rs3108181	0.86[EUR][1000 genomes]
rs3108182	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3108184	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108185	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108186	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108187	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108188	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108189	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108190	0.86[EUR][1000 genomes]
rs3108191	0.86[EUR][1000 genomes]
rs3108192	0.91[AFR][1000 genomes]
rs3108193	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108196	0.81[AFR][1000 genomes]
rs3108197	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3108201	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3108203	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108205	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108208	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3108209	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3108214	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3108215	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3108543	0.83[AFR][1000 genomes]
rs3108544	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3108545	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108546	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs3108550	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108552	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108555	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108559	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108560	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108562	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108563	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3108564	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108565	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3108566	0.84[EUR][1000 genomes]
rs3108568	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3108570	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3108572	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3108573	0.81[AFR][1000 genomes]
rs3108574	0.84[EUR][1000 genomes]
rs3108575	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3108576	0.84[EUR][1000 genomes]
rs3108577	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3108579	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3108583	0.82[AFR][1000 genomes]
rs3108585	0.82[AFR][1000 genomes]
rs3108594	0.81[AMR][1000 genomes]
rs3108596	0.82[AMR][1000 genomes]
rs3108597	0.81[AMR][1000 genomes]
rs3108600	0.81[AMR][1000 genomes]
rs3108602	0.86[AMR][1000 genomes]
rs3108603	0.85[AMR][1000 genomes]
rs3108607	0.86[AMR][1000 genomes]
rs3108608	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3108610	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3111547	0.83[AMR][1000 genomes]
rs34002069	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34395293	0.82[AMR][1000 genomes]
rs4806336	0.83[AMR][1000 genomes]
rs7245414	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7248477	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7252957	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7259256	0.83[EUR][1000 genomes]
rs8105197	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]

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	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	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
6	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
7	esv3492171	chr19:37122012-37190210	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
8	esv3492172	chr19:37122562-37190060	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
9	esv3492173	chr19:37122562-37190060	Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
10	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS 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	27 gene(s)	inside rSNPs	diseases
12	esv3420176	chr19:37130161-37207917	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
13	nsv1061250	chr19:37134068-37188771	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a
14	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv470139	chr19:37171201-37264190	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3108206	AC092295.7	cis	Esophagus Muscularis	GTEx
rs3108206	ZNF567	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37158600-37177200	Weak transcription	Fetal Kidney	kidney
2	chr19:37158600-37177400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:37158600-37177400	Weak transcription	NHDF-Ad	bronchial
4	chr19:37158600-37177800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:37159000-37177000	Weak transcription	NHLF	lung
6	chr19:37159200-37177600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:37159400-37177600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:37159600-37176200	Weak transcription	Gastric	stomach
9	chr19:37159600-37177400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:37160000-37177000	Weak transcription	Fetal Heart	heart
11	chr19:37163200-37177200	Weak transcription	Pancreas	Pancrea
12	chr19:37165000-37177200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:37165600-37177400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr19:37167600-37177000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr19:37167800-37177200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr19:37167800-37177400	Weak transcription	Colonic Mucosa	Colon
17	chr19:37168000-37177200	Weak transcription	NH-A	brain
18	chr19:37168800-37174600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:37168800-37176400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:37168800-37176400	ZNF genes & repeats	Liver	Liver
21	chr19:37169200-37175400	Strong transcription	Primary B cells from cord blood	blood
22	chr19:37169200-37177200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr19:37169200-37177200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr19:37169200-37177800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr19:37169400-37176800	Weak transcription	HSMMtube	muscle
26	chr19:37169400-37177200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr19:37169600-37177400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr19:37170000-37176800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:37170400-37176800	Weak transcription	Brain Anterior Caudate	brain
30	chr19:37170400-37177400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:37170600-37173800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:37170600-37174000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:37170600-37174600	Strong transcription	Brain Germinal Matrix	brain
34	chr19:37170600-37175400	Weak transcription	Brain Hippocampus Middle	brain
35	chr19:37170600-37176800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr19:37170600-37177000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr19:37170600-37177400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:37170800-37176800	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr19:37170800-37177200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:37170800-37177400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:37170800-37177400	Weak transcription	Brain Substantia Nigra	brain
42	chr19:37171000-37177200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:37171000-37177400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr19:37171000-37177400	Weak transcription	Fetal Lung	lung
45	chr19:37171200-37177200	Weak transcription	NHEK	skin
46	chr19:37171400-37173800	ZNF genes & repeats	Fetal Stomach	stomach
47	chr19:37171400-37176800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr19:37171600-37176400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr19:37171600-37176800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr19:37171600-37177200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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