Variant report

Variant	rs2967436
Chromosome Location	chr19:37047472-37047473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37047289..37050700-chr19:37061573..37063531,3	K562	blood:
2	chr19:37024321..37026162-chr19:37046669..37049079,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1035777	0.95[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.88[ASN][1000 genomes]
rs10402182	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs10403456	0.89[ASN][1000 genomes]
rs10407919	0.83[ASN][1000 genomes]
rs11084861	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs11667894	0.83[ASN][1000 genomes]
rs11668689	0.87[ASN][1000 genomes]
rs12608459	0.86[ASN][1000 genomes]
rs1357879	0.95[CHB][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap];0.82[LWK][hapmap]
rs1464830	0.85[ASN][1000 genomes]
rs1464831	0.85[ASN][1000 genomes]
rs1525133	0.95[CHB][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap]
rs17272386	0.95[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap]
rs1985980	0.85[ASN][1000 genomes]
rs2052728	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2162296	0.95[CHB][hapmap];0.84[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs2194976	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2912399	0.92[ASN][1000 genomes]
rs2912400	0.84[ASN][1000 genomes]
rs2912404	0.81[ASN][1000 genomes]
rs2912408	0.87[ASN][1000 genomes]
rs2912412	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2912440	0.89[ASN][1000 genomes]
rs2912442	0.90[ASN][1000 genomes]
rs2912443	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2912444	0.95[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2912446	0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2945964	0.90[ASN][1000 genomes]
rs2967427	0.89[ASN][1000 genomes]
rs2967429	0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs2967437	0.87[ASN][1000 genomes]
rs2967438	0.87[ASN][1000 genomes]
rs2967439	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2967440	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2967442	0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.91[ASN][1000 genomes]
rs2967459	0.95[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.88[ASN][1000 genomes]
rs2967461	0.87[ASN][1000 genomes]
rs2967463	0.86[ASN][1000 genomes]
rs2967464	0.90[ASN][1000 genomes]
rs2967473	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs3096620	0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs3096637	0.90[ASN][1000 genomes]
rs3108593	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.98[ASN][1000 genomes]
rs3108605	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4806338	0.89[ASN][1000 genomes]
rs4806339	0.83[ASN][1000 genomes]
rs60297398	0.83[ASN][1000 genomes]
rs61457535	0.83[ASN][1000 genomes]
rs6510551	0.92[ASN][1000 genomes]
rs67258954	0.89[ASN][1000 genomes]
rs67995015	0.83[ASN][1000 genomes]
rs68012004	0.83[ASN][1000 genomes]
rs7246216	0.89[ASN][1000 genomes]
rs7251805	0.87[ASN][1000 genomes]
rs7507224	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs8100381	0.95[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs8108985	0.95[CHB][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	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
6	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
7	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
8	nsv1056134	chr19:37022039-37056943	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
9	esv3358390	chr19:37045462-37047560	ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2967436	CEACAM3	cis	parietal	SCAN
rs2967436	PAK4	cis	cerebellum	SCAN
rs2967436	ZNF285	cis	parietal	SCAN
rs2967436	KCNK6	cis	cerebellum	SCAN
rs2967436	ZNF260	trans	cerebellum	SCAN
rs2967436	CYP2B6	cis	cerebellum	SCAN
rs2967436	ZNF260	cis	Esophagus Mucosa	GTEx
rs2967436	ARHGEF1	cis	cerebellum	SCAN
rs2967436	PRR19	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37021400-37061600	ZNF genes & repeats	Liver	Liver
2	chr19:37022800-37061200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:37023000-37061800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:37023200-37048400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr19:37023200-37060200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
6	chr19:37023200-37061600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:37023400-37048800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr19:37023400-37060000	ZNF genes & repeats	Fetal Lung	lung
9	chr19:37023400-37062000	ZNF genes & repeats	Fetal Brain Female	brain
10	chr19:37023400-37063000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr19:37023600-37061000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
12	chr19:37023800-37057800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:37023800-37058200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:37023800-37058200	ZNF genes & repeats	Dnd41	blood
15	chr19:37023800-37061600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:37025400-37052400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr19:37025600-37049000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr19:37025600-37053000	ZNF genes & repeats	Brain Anterior Caudate	brain
19	chr19:37025600-37061000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
20	chr19:37025600-37062800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:37025800-37048000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:37025800-37048400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr19:37025800-37060200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
24	chr19:37027400-37054400	ZNF genes & repeats	Brain Hippocampus Middle	brain
25	chr19:37027600-37049200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
26	chr19:37028600-37050800	ZNF genes & repeats	Primary B cells from cord blood	blood
27	chr19:37028600-37055000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr19:37028600-37061800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr19:37028800-37048800	ZNF genes & repeats	Brain Substantia Nigra	brain
30	chr19:37028800-37054400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
31	chr19:37029000-37060000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr19:37030600-37048600	ZNF genes & repeats	Brain Germinal Matrix	brain
33	chr19:37031400-37047800	ZNF genes & repeats	Colon Smooth Muscle	Colon
34	chr19:37031400-37049600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
35	chr19:37031400-37056800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
36	chr19:37031400-37057800	ZNF genes & repeats	Primary T cells from cord blood	blood
37	chr19:37032800-37048000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr19:37033400-37047800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
39	chr19:37033400-37048400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
40	chr19:37033400-37051000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:37033600-37048000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:37033600-37048600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
43	chr19:37033800-37047600	ZNF genes & repeats	Fetal Kidney	kidney
44	chr19:37033800-37048000	ZNF genes & repeats	HSMMtube	muscle
45	chr19:37033800-37048400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
46	chr19:37034000-37054000	ZNF genes & repeats	A549	lung
47	chr19:37034000-37063000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:37034200-37052800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr19:37034200-37059600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
50	chr19:37034400-37047800	ZNF genes & repeats	Rectal Smooth Muscle	rectum

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