Variant report

Variant	rs67949818
Chromosome Location	chr3:136212978-136212979
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	chr3:136212773..136214378-chr3:136219138..136220925,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs12695645	1.00[ASN][1000 genomes]
rs12695649	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13066401	1.00[ASN][1000 genomes]
rs13071220	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13072038	1.00[ASN][1000 genomes]
rs13092193	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13096466	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13100192	1.00[ASN][1000 genomes]
rs13316214	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13321721	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13326151	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13433688	1.00[ASN][1000 genomes]
rs13434116	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1604793	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17298525	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17364492	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28390205	1.00[ASN][1000 genomes]
rs28472992	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28634226	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28641809	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28718456	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28750366	1.00[ASN][1000 genomes]
rs28811905	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28877020	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34031772	1.00[ASN][1000 genomes]
rs34135127	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34168675	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34282798	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34428695	1.00[ASN][1000 genomes]
rs34757183	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34804893	1.00[ASN][1000 genomes]
rs34913797	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34969907	1.00[ASN][1000 genomes]
rs35326900	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35428413	1.00[ASN][1000 genomes]
rs35522825	1.00[ASN][1000 genomes]
rs35899944	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4038586	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66890203	1.00[ASN][1000 genomes]
rs67145204	1.00[ASN][1000 genomes]
rs67382287	1.00[ASN][1000 genomes]
rs6767889	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6768743	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6771002	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773949	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6774964	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775314	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6806123	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71336069	1.00[ASN][1000 genomes]
rs73230043	1.00[ASN][1000 genomes]
rs7612425	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9809269	1.00[ASN][1000 genomes]
rs9810789	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9812579	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9813115	1.00[ASN][1000 genomes]
rs9813691	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9818056	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9818536	1.00[ASN][1000 genomes]
rs9820717	1.00[ASN][1000 genomes]
rs9823373	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9828088	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9837158	1.00[ASN][1000 genomes]
rs9839137	0.83[AMR][1000 genomes]
rs9841529	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9847427	1.00[ASN][1000 genomes]
rs9857833	1.00[ASN][1000 genomes]
rs9857966	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9866840	1.00[ASN][1000 genomes]
rs9869630	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9870825	1.00[ASN][1000 genomes]
rs9872178	1.00[ASN][1000 genomes]
rs9875770	1.00[ASN][1000 genomes]
rs9878078	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9881831	1.00[ASN][1000 genomes]
rs9883189	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948461	chr3:135969755-136349636	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv877519	chr3:136035737-136279390	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv877520	chr3:136056861-136310985	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv877521	chr3:136069286-136310985	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv877522	chr3:136088038-136241028	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv877523	chr3:136088038-136310985	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv520012	chr3:136088038-136314119	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv877524	chr3:136112109-136295283	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv877525	chr3:136112109-136310985	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv877526	chr3:136149139-136310985	ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv877527	chr3:136182053-136310985	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv877528	chr3:136209550-136295283	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv591850	chr3:136209550-136300732	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136176400-136314200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:136176600-136222800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:136176600-136224200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr3:136176600-136224400	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:136176600-136231800	Weak transcription	Psoas Muscle	Psoas
6	chr3:136176600-136240000	Weak transcription	HMEC	breast
7	chr3:136176600-136260800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:136176800-136228000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:136176800-136266200	Weak transcription	Hela-S3	cervix
10	chr3:136177200-136236400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:136178600-136220200	Weak transcription	Fetal Brain Male	brain
12	chr3:136191000-136220000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr3:136191400-136268000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:136192200-136225600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:136192400-136252400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr3:136193800-136217200	Weak transcription	HepG2	liver
17	chr3:136193800-136231400	Weak transcription	NHLF	lung
18	chr3:136193800-136239200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr3:136195000-136220400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr3:136195000-136223000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:136195200-136231000	Weak transcription	Osteobl	bone
22	chr3:136195400-136214200	Weak transcription	Spleen	Spleen
23	chr3:136195400-136215600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:136195400-136218200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:136195400-136231400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr3:136195400-136232000	Weak transcription	Right Ventricle	heart
27	chr3:136195400-136241800	Weak transcription	NH-A	brain
28	chr3:136195400-136250400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr3:136195400-136278800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:136195600-136220200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:136195600-136224000	Weak transcription	Brain Angular Gyrus	brain
32	chr3:136203000-136224600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:136204000-136214600	Strong transcription	Dnd41	blood
34	chr3:136205200-136220800	Weak transcription	Fetal Brain Female	brain
35	chr3:136206200-136213400	Weak transcription	Brain Germinal Matrix	brain
36	chr3:136206400-136220400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr3:136206600-136217400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr3:136207000-136217800	Weak transcription	Liver	Liver
39	chr3:136208400-136230400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr3:136208800-136217600	Weak transcription	Primary T cells from cord blood	blood
41	chr3:136209800-136215000	Strong transcription	Fetal Lung	lung
42	chr3:136210000-136213000	Strong transcription	Adipose Nuclei	Adipose
43	chr3:136210000-136213200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr3:136210000-136213200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr3:136210000-136213400	Strong transcription	Primary B cells from cord blood	blood
46	chr3:136210000-136213600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:136210200-136225800	Weak transcription	NHDF-Ad	bronchial
48	chr3:136210400-136220400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:136210600-136213200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:136210600-136214200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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