Variant report

Variant	rs11084861
Chromosome Location	chr19:37143057-37143058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36978907..36980878-chr19:37142298..37144775,2	K562	blood:

Variant related genes	Relation type
ENSG00000186017	Chromatin interaction
ENSG00000267309	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1035777	1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs10402182	0.95[CHB][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs10403456	0.88[ASN][1000 genomes]
rs10407919	0.94[ASN][1000 genomes]
rs11666769	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11667894	0.93[ASN][1000 genomes]
rs11668432	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11668689	0.93[ASN][1000 genomes]
rs11669816	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11670914	0.86[ASN][1000 genomes]
rs11671382	0.89[ASN][1000 genomes]
rs11672098	0.85[ASN][1000 genomes]
rs12608459	0.94[ASN][1000 genomes]
rs12608512	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12610555	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12610572	0.86[ASN][1000 genomes]
rs1357879	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs1464830	0.95[ASN][1000 genomes]
rs1464831	0.95[ASN][1000 genomes]
rs1525133	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs1673082	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17272386	1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs1985980	0.89[ASN][1000 genomes]
rs2052728	1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs2162296	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2194976	1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs2912399	0.88[ASN][1000 genomes]
rs2912400	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2912404	0.85[ASN][1000 genomes]
rs2912408	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2912412	1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs2912440	0.85[ASN][1000 genomes]
rs2912442	0.87[ASN][1000 genomes]
rs2912443	0.86[ASN][1000 genomes]
rs2912444	1.00[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs2912446	1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs2945964	0.87[ASN][1000 genomes]
rs2945978	0.82[ASN][1000 genomes]
rs2967427	0.91[ASN][1000 genomes]
rs2967429	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2967436	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs2967437	0.89[ASN][1000 genomes]
rs2967438	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2967439	1.00[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs2967440	1.00[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs2967442	1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs2967459	1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs2967461	0.83[ASN][1000 genomes]
rs2967463	0.90[ASN][1000 genomes]
rs2967464	0.87[ASN][1000 genomes]
rs2967473	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.94[TSI][hapmap]
rs3096620	1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs3096637	0.87[ASN][1000 genomes]
rs3108593	0.95[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs3108605	1.00[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs35299345	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4806338	0.87[ASN][1000 genomes]
rs4806339	0.94[ASN][1000 genomes]
rs4806349	0.86[ASN][1000 genomes]
rs55940011	0.85[ASN][1000 genomes]
rs55965207	0.82[ASN][1000 genomes]
rs60213885	0.86[ASN][1000 genomes]
rs60297398	0.94[ASN][1000 genomes]
rs61457535	0.93[ASN][1000 genomes]
rs61628442	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6510551	0.88[ASN][1000 genomes]
rs66717711	0.86[ASN][1000 genomes]
rs66783290	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67258954	0.88[ASN][1000 genomes]
rs67995015	0.94[ASN][1000 genomes]
rs68012004	0.94[ASN][1000 genomes]
rs7246216	0.88[ASN][1000 genomes]
rs7251805	0.93[ASN][1000 genomes]
rs73609113	0.86[ASN][1000 genomes]
rs7507224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8100381	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs8108985	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs826987	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37098000-37156000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:37106800-37151000	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:37106800-37156200	ZNF genes & repeats	Liver	Liver
4	chr19:37107000-37152400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:37110400-37152600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:37124800-37155600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:37126200-37156200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:37127200-37151000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:37128200-37150600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:37128600-37149600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
11	chr19:37128800-37156200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:37134400-37143400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:37134600-37157000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:37135200-37156200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr19:37135400-37143600	ZNF genes & repeats	Fetal Intestine Large	intestine
16	chr19:37135600-37143400	ZNF genes & repeats	Aorta	Aorta
17	chr19:37135600-37146600	ZNF genes & repeats	Brain Anterior Caudate	brain
18	chr19:37135600-37150000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:37135800-37148000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
20	chr19:37135800-37150000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr19:37135800-37150800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:37135800-37156200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
23	chr19:37135800-37156400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr19:37136000-37145000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:37136000-37145400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:37136000-37150800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:37136000-37151600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
28	chr19:37136000-37152200	ZNF genes & repeats	Fetal Brain Female	brain
29	chr19:37136000-37152400	ZNF genes & repeats	A549	lung
30	chr19:37136400-37152200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
31	chr19:37137200-37143800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
32	chr19:37137200-37150400	ZNF genes & repeats	Brain Germinal Matrix	brain
33	chr19:37137200-37151200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
34	chr19:37138200-37144600	Weak transcription	HUVEC	blood vessel
35	chr19:37138200-37149200	Strong transcription	Osteobl	bone
36	chr19:37139800-37144000	Weak transcription	NHLF	lung
37	chr19:37140000-37143800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:37140200-37146200	Weak transcription	Stomach Mucosa	stomach
39	chr19:37140400-37144000	Weak transcription	HSMMtube	muscle
40	chr19:37140600-37144400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:37140800-37143600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr19:37140800-37143800	Weak transcription	HSMM	muscle
43	chr19:37141000-37143400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr19:37141000-37144400	Weak transcription	Thymus	Thymus
45	chr19:37141000-37144800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:37141400-37145600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
47	chr19:37141400-37150800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
48	chr19:37141400-37151000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
49	chr19:37141400-37151000	ZNF genes & repeats	Primary T cells from cord blood	blood
50	chr19:37141400-37151200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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