Variant report

Variant	rs2267585
Chromosome Location	chr19:36156630-36156631
allele	A/G
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	chr19:36156492-36158098	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr19:36156410-36157863	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr19:36156618-36156858	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
UPK1A	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10415370	0.91[JPT][hapmap]
rs10420252	0.91[JPT][hapmap]
rs11546662	0.84[EUR][1000 genomes]
rs11546665	0.84[EUR][1000 genomes]
rs12459935	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1544332	0.82[JPT][hapmap]
rs16970649	0.80[EUR][1000 genomes]
rs17776834	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2227278	0.86[EUR][1000 genomes]
rs2234360	0.86[EUR][1000 genomes]
rs2234375	0.84[EUR][1000 genomes]
rs2267586	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2285419	0.91[JPT][hapmap]
rs2285420	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2311873	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2871893	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2871894	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34562867	0.83[EUR][1000 genomes]
rs3817622	0.84[EUR][1000 genomes]
rs3893069	0.84[EUR][1000 genomes]
rs41361648	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4580318	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4992668	0.84[EUR][1000 genomes]
rs56849855	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57180990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58255615	0.84[EUR][1000 genomes]
rs58496446	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58952294	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60264154	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61220012	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61254015	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61375471	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7249516	0.91[JPT][hapmap]
rs73590543	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73590544	0.86[AMR][1000 genomes]
rs73590559	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73590564	0.84[EUR][1000 genomes]
rs73590568	0.86[EUR][1000 genomes]
rs73590576	0.84[EUR][1000 genomes]
rs73590585	0.83[EUR][1000 genomes]
rs73590591	0.83[EUR][1000 genomes]
rs73590598	0.84[EUR][1000 genomes]
rs73592416	0.84[EUR][1000 genomes]
rs73592448	0.84[EUR][1000 genomes]
rs73592461	0.84[EUR][1000 genomes]
rs73599271	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73599272	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73599274	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73599279	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73599281	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73599286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73599289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73600880	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73600881	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73600885	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73600892	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73600893	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73600896	0.82[AMR][1000 genomes]
rs73600899	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73602803	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73602804	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73602806	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73602823	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73602827	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73602832	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73602833	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]

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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv543995	chr19:36139204-36203592	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
6	nsv526166	chr19:36156588-36159368	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv817832	chr19:36156588-36159368	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
9	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36140400-36164000	Weak transcription	Right Atrium	heart
2	chr19:36140600-36157200	Strong transcription	Fetal Stomach	stomach
3	chr19:36141000-36157000	Strong transcription	Fetal Muscle Trunk	muscle
4	chr19:36141400-36156800	Strong transcription	Spleen	Spleen
5	chr19:36141400-36157200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:36141800-36156800	Strong transcription	Fetal Thymus	thymus
7	chr19:36142200-36156800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:36142200-36156800	Strong transcription	Left Ventricle	heart
9	chr19:36142200-36157800	Weak transcription	Fetal Heart	heart
10	chr19:36142800-36157200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:36144400-36156800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr19:36144600-36156800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:36144600-36156800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr19:36144600-36157200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:36144600-36157600	Strong transcription	Thymus	Thymus
16	chr19:36144800-36156800	Strong transcription	Brain Anterior Caudate	brain
17	chr19:36144800-36157000	Strong transcription	Fetal Muscle Leg	muscle
18	chr19:36145800-36157200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr19:36149600-36157000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:36149600-36158200	Weak transcription	Colon Smooth Muscle	Colon
21	chr19:36149600-36164000	Weak transcription	HMEC	breast
22	chr19:36149800-36157200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:36149800-36158000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr19:36149800-36158200	Weak transcription	NH-A	brain
25	chr19:36149800-36158400	Weak transcription	Fetal Brain Male	brain
26	chr19:36149800-36158400	Weak transcription	Small Intestine	intestine
27	chr19:36149800-36161600	Weak transcription	Osteobl	bone
28	chr19:36149800-36163400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr19:36150000-36158000	Weak transcription	Fetal Brain Female	brain
30	chr19:36150000-36160800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:36150200-36157600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:36151000-36156800	Weak transcription	Dnd41	blood
33	chr19:36151000-36157200	Weak transcription	HSMMtube	muscle
34	chr19:36151000-36158200	Weak transcription	Colonic Mucosa	Colon
35	chr19:36151000-36158400	Weak transcription	Fetal Intestine Large	intestine
36	chr19:36151200-36157200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr19:36151200-36157400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr19:36151200-36158000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr19:36151200-36158200	Weak transcription	NHEK	skin
40	chr19:36151200-36158400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:36151200-36158600	Weak transcription	Brain Germinal Matrix	brain
42	chr19:36151200-36158600	Weak transcription	NHLF	lung
43	chr19:36151200-36159200	Weak transcription	Ovary	ovary
44	chr19:36151200-36159200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr19:36151200-36159400	Weak transcription	A549	lung
46	chr19:36151200-36160800	Weak transcription	Brain Substantia Nigra	brain
47	chr19:36151200-36160800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr19:36151800-36157000	Strong transcription	GM12878-XiMat	blood
49	chr19:36152200-36156800	Strong transcription	Primary T cells from cord blood	blood
50	chr19:36152600-36156800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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