Variant report

Variant	rs2335390
Chromosome Location	chr12:64609562-64609563
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	chr12:64609478..64611055-chr12:64611155..64613001,2	K562	blood:
2	chr12:64608996..64611761-chr12:64615123..64617494,2	K562	blood:

Variant related genes	Relation type
ENSG00000243024	Chromatin interaction
ENSG00000174206	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10459258	1.00[AMR][1000 genomes]
rs10459259	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10735920	1.00[AMR][1000 genomes]
rs10735921	1.00[AMR][1000 genomes]
rs10735922	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10878133	1.00[AMR][1000 genomes]
rs10878145	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1162970	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11830260	1.00[AMR][1000 genomes]
rs11835078	1.00[AMR][1000 genomes]
rs1436361	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1469862	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1657051	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1708200	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1865796	0.88[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1898221	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2082951	1.00[AMR][1000 genomes]
rs2453509	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2575290	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2575294	1.00[AMR][1000 genomes]
rs35744300	1.00[AMR][1000 genomes]
rs4237925	1.00[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4522269	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4572232	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4763015	0.87[AFR][1000 genomes]
rs4763153	1.00[AMR][1000 genomes]
rs4763156	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6421211	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6581542	0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs696658	1.00[AMR][1000 genomes]
rs696659	1.00[AMR][1000 genomes]
rs699629	1.00[AMR][1000 genomes]
rs699630	1.00[AMR][1000 genomes]
rs699631	1.00[AMR][1000 genomes]
rs699632	1.00[AMR][1000 genomes]
rs699635	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs699636	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs699637	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs699638	1.00[AMR][1000 genomes]
rs7488560	1.00[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs789719	0.83[MKK][hapmap]
rs789723	1.00[AMR][1000 genomes]
rs789726	1.00[AMR][1000 genomes]
rs789727	1.00[AMR][1000 genomes]
rs789728	1.00[AMR][1000 genomes]
rs789730	1.00[AMR][1000 genomes]
rs789738	1.00[AMR][1000 genomes]
rs789742	1.00[AMR][1000 genomes]
rs789747	1.00[AMR][1000 genomes]
rs790013	1.00[AMR][1000 genomes]
rs790014	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs790017	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7955105	1.00[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976524	1.00[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs809322	1.00[AMR][1000 genomes]
rs813156	0.90[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64575000-64615200	Weak transcription	Psoas Muscle	Psoas
2	chr12:64575600-64615000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:64575800-64615200	Weak transcription	Fetal Stomach	stomach
4	chr12:64576000-64615000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:64581400-64614600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:64581800-64615400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:64582600-64614600	Weak transcription	Hela-S3	cervix
8	chr12:64582600-64614600	Weak transcription	NHDF-Ad	bronchial
9	chr12:64583200-64615400	Weak transcription	Placenta	Placenta
10	chr12:64584800-64615200	Weak transcription	Thymus	Thymus
11	chr12:64586000-64611800	Weak transcription	Small Intestine	intestine
12	chr12:64586200-64615200	Weak transcription	Right Ventricle	heart
13	chr12:64587400-64609600	Weak transcription	K562	blood
14	chr12:64588200-64613000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:64588400-64613000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:64588400-64613000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:64588400-64614000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:64588400-64614600	Weak transcription	HMEC	breast
19	chr12:64588400-64614800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:64588400-64615000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:64588400-64615000	Weak transcription	HSMM	muscle
22	chr12:64588400-64615200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:64588400-64615400	Weak transcription	Spleen	Spleen
24	chr12:64588600-64612400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:64589000-64609600	Weak transcription	Gastric	stomach
26	chr12:64589000-64613000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr12:64589000-64613800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:64589000-64614800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:64589000-64614800	Weak transcription	Fetal Thymus	thymus
30	chr12:64589000-64615200	Weak transcription	Fetal Intestine Large	intestine
31	chr12:64589000-64615600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:64589200-64611800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:64589400-64612000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:64589400-64614600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:64589600-64612000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:64589800-64612400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:64594600-64615000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:64595200-64611800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:64595200-64613000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:64595600-64609600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:64597400-64615200	Weak transcription	HSMMtube	muscle
42	chr12:64597400-64615400	Weak transcription	Left Ventricle	heart
43	chr12:64598000-64613200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:64598000-64614000	Weak transcription	Brain Angular Gyrus	brain
45	chr12:64598000-64614000	Weak transcription	Brain Substantia Nigra	brain
46	chr12:64598000-64615400	Weak transcription	Aorta	Aorta
47	chr12:64598200-64612400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr12:64598600-64613800	Weak transcription	Pancreas	Pancrea
49	chr12:64598600-64615000	Weak transcription	Fetal Muscle Leg	muscle
50	chr12:64600200-64615200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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