Variant report

Variant	rs639343
Chromosome Location	chr12:121229569-121229570
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	chr12:120729295..120732240-chr12:121229424..121231608,2	K562	blood:

Variant related genes	Relation type
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1055059	1.00[ASN][1000 genomes]
rs10849777	1.00[ASN][1000 genomes]
rs10849797	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065179	1.00[ASN][1000 genomes]
rs11065201	1.00[ASN][1000 genomes]
rs11065207	1.00[ASN][1000 genomes]
rs11065210	1.00[ASN][1000 genomes]
rs11065213	1.00[ASN][1000 genomes]
rs11065226	1.00[ASN][1000 genomes]
rs11065227	1.00[ASN][1000 genomes]
rs11065228	1.00[ASN][1000 genomes]
rs11065253	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065258	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065260	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065263	0.84[EUR][1000 genomes]
rs11065267	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065275	0.86[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065279	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065281	0.84[EUR][1000 genomes]
rs11065285	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065286	0.85[YRI][hapmap]
rs11065288	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065291	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065294	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065308	1.00[ASN][1000 genomes]
rs11065309	1.00[ASN][1000 genomes]
rs11065315	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs11065318	1.00[ASN][1000 genomes]
rs11065326	1.00[ASN][1000 genomes]
rs11065328	1.00[ASN][1000 genomes]
rs11065334	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs11065347	1.00[ASN][1000 genomes]
rs11065353	1.00[ASN][1000 genomes]
rs1151854	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs1151855	1.00[ASN][1000 genomes]
rs1151860	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs1151865	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs1186042	1.00[ASN][1000 genomes]
rs12366451	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368617	1.00[ASN][1000 genomes]
rs12370534	1.00[ASN][1000 genomes]
rs1696358	1.00[ASN][1000 genomes]
rs1696362	0.89[CEU][hapmap]
rs1718207	1.00[ASN][1000 genomes]
rs1732397	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs1732399	1.00[ASN][1000 genomes]
rs2454728	1.00[ASN][1000 genomes]
rs2701179	1.00[ASN][1000 genomes]
rs497457	1.00[CEU][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498255	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs513940	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs515784	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519785	1.00[CEU][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530162	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554197	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572009	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574993	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581197	1.00[ASN][1000 genomes]
rs581515	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs582678	1.00[CEU][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590556	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59818945	1.00[ASN][1000 genomes]
rs61108232	1.00[ASN][1000 genomes]
rs61414515	1.00[ASN][1000 genomes]
rs61624288	1.00[ASN][1000 genomes]
rs626103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs627211	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645661	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs645786	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647336	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs648262	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[ASN][1000 genomes]
rs651156	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660878	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671815	1.00[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708784	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708788	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409953	1.00[ASN][1000 genomes]
rs73411916	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413866	1.00[ASN][1000 genomes]
rs73413874	1.00[ASN][1000 genomes]
rs7960932	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1801139	chr12:121228410-121241933	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121206200-121238600	Weak transcription	Small Intestine	intestine
2	chr12:121207200-121233000	Weak transcription	HSMMtube	muscle
3	chr12:121209400-121236800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:121211400-121260800	Weak transcription	Gastric	stomach
5	chr12:121212600-121229600	Weak transcription	Right Atrium	heart
6	chr12:121212600-121229800	Weak transcription	Right Ventricle	heart
7	chr12:121212600-121236600	Weak transcription	Fetal Heart	heart
8	chr12:121213200-121231200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:121221000-121250000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:121221200-121229600	Weak transcription	Osteobl	bone
11	chr12:121221200-121233000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:121221200-121233600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:121221200-121249400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:121221400-121229800	Weak transcription	NHDF-Ad	bronchial
15	chr12:121221400-121230400	Weak transcription	HMEC	breast
16	chr12:121221400-121231000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:121221400-121232800	Weak transcription	A549	lung
18	chr12:121221400-121235800	Weak transcription	Hela-S3	cervix
19	chr12:121221400-121240800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:121221600-121238800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:121222000-121233200	Weak transcription	NHEK	skin
22	chr12:121222000-121233800	Weak transcription	Fetal Stomach	stomach
23	chr12:121222200-121230200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:121222200-121231200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:121222200-121231200	Weak transcription	Fetal Brain Female	brain
26	chr12:121222200-121237200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:121222200-121274000	Weak transcription	Lung	lung
28	chr12:121222400-121229600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:121222400-121231200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:121222400-121238800	Weak transcription	Placenta	Placenta
31	chr12:121222400-121240400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:121222600-121229600	Weak transcription	Colonic Mucosa	Colon
33	chr12:121222600-121229600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:121222600-121229800	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:121222600-121230600	Weak transcription	Adipose Nuclei	Adipose
36	chr12:121222600-121231000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:121222600-121231200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:121222600-121232200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:121222600-121233200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:121222600-121237200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:121222600-121249200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr12:121222600-121259000	Weak transcription	Ovary	ovary
43	chr12:121222600-121260800	Weak transcription	Spleen	Spleen
44	chr12:121222600-121268600	Weak transcription	Esophagus	oesophagus
45	chr12:121222600-121268600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:121222800-121230200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:121222800-121233200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:121222800-121237200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:121222800-121237400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:121222800-121240600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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