Variant report

Variant	rs6732949
Chromosome Location	chr2:54809786-54809787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54785399..54787507-chr2:54807826..54810399,2	K562	blood:
2	chr2:54799877..54801952-chr2:54808384..54810954,2	K562	blood:
3	chr2:54783297..54785333-chr2:54809031..54810704,2	K562	blood:

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10165490	1.00[YRI][hapmap]
rs10180713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1047499	0.95[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11885703	0.85[EUR][1000 genomes]
rs11892788	0.95[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11898012	1.00[YRI][hapmap]
rs12104998	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs12105792	0.85[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12467581	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12468469	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12617036	0.87[EUR][1000 genomes]
rs12713260	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13016942	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13399435	1.00[YRI][hapmap]
rs1367295	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs1510611	0.82[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs1541854	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs168506	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs171350	0.82[EUR][1000 genomes]
rs17344072	0.81[CEU][hapmap];0.90[EUR][1000 genomes]
rs17521078	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs1864493	0.90[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2048371	0.82[EUR][1000 genomes]
rs2271322	0.85[EUR][1000 genomes]
rs2292356	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2292357	0.90[EUR][1000 genomes]
rs2931463	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2931464	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2941583	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2941586	0.95[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2941587	0.95[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2941591	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2941595	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2971875	0.81[EUR][1000 genomes]
rs2971877	0.95[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2971879	0.95[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2971883	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2971887	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3106204	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs354213	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs354223	0.82[AMR][1000 genomes]
rs354226	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs354228	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs354231	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3796014	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4233952	0.83[EUR][1000 genomes]
rs4444573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4455199	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4519562	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4592889	0.89[EUR][1000 genomes]
rs4671221	0.80[CEU][hapmap];0.85[EUR][1000 genomes]
rs4671222	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs4671225	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4671226	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4671945	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs4671946	0.87[EUR][1000 genomes]
rs4671947	0.87[EUR][1000 genomes]
rs4671949	0.89[EUR][1000 genomes]
rs4671951	0.81[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4671955	0.84[EUR][1000 genomes]
rs4671956	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4671960	0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs4671961	0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs4990319	0.87[EUR][1000 genomes]
rs6545411	0.81[EUR][1000 genomes]
rs6545413	0.81[EUR][1000 genomes]
rs6545414	0.81[EUR][1000 genomes]
rs6545415	0.81[EUR][1000 genomes]
rs6545418	0.83[EUR][1000 genomes]
rs6545419	0.82[CEU][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs6545427	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6545429	0.84[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6545434	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6704769	0.84[EUR][1000 genomes]
rs6706372	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6724590	0.84[EUR][1000 genomes]
rs6729826	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs6731661	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6734658	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6735813	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6742607	0.81[EUR][1000 genomes]
rs6746016	1.00[YRI][hapmap]
rs6746306	0.83[EUR][1000 genomes]
rs6748816	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6760298	0.91[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs6761369	0.86[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6761398	0.85[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7558950	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7563706	0.84[EUR][1000 genomes]
rs7589236	0.82[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7607451	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs907135	0.91[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54796800-54810200	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr2:54796800-54810600	Enhancers	Small Intestine	intestine
3	chr2:54801800-54811000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:54802000-54816400	Enhancers	Liver	Liver
5	chr2:54802200-54822600	Weak transcription	Esophagus	oesophagus
6	chr2:54804000-54822400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:54804600-54809800	Enhancers	Fetal Intestine Large	intestine
8	chr2:54804600-54814600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:54805000-54811000	Enhancers	Fetal Thymus	thymus
10	chr2:54805400-54810400	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:54805400-54815800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:54805400-54830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:54805600-54810000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:54805600-54811800	Weak transcription	Ovary	ovary
15	chr2:54805600-54811800	Weak transcription	NHDF-Ad	bronchial
16	chr2:54805600-54819800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:54806200-54811800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:54806200-54813000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:54806800-54809800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:54806800-54811800	Weak transcription	Fetal Brain Male	brain
21	chr2:54806800-54811800	Weak transcription	HSMM	muscle
22	chr2:54806800-54812000	Weak transcription	NHLF	lung
23	chr2:54807000-54810200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:54807000-54811000	Enhancers	Stomach Mucosa	stomach
25	chr2:54807000-54811600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr2:54807000-54811800	Weak transcription	NHEK	skin
27	chr2:54807000-54826000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:54807200-54810600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:54807200-54812800	Weak transcription	HSMMtube	muscle
30	chr2:54807200-54814600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:54807200-54814800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:54807200-54815800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:54807200-54816400	Weak transcription	Aorta	Aorta
34	chr2:54807200-54819800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:54807400-54809800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:54807400-54810000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:54807400-54811000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:54807400-54811800	Weak transcription	Dnd41	blood
39	chr2:54807400-54811800	Weak transcription	Osteobl	bone
40	chr2:54807400-54813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:54807600-54810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:54807600-54811200	Weak transcription	Hela-S3	cervix
43	chr2:54807600-54811800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:54807600-54811800	Weak transcription	NH-A	brain
45	chr2:54807600-54812000	Weak transcription	HMEC	breast
46	chr2:54807600-54813600	Enhancers	Duodenum Mucosa	Duodenum
47	chr2:54807800-54810200	Genic enhancers	Fetal Intestine Small	intestine
48	chr2:54807800-54811200	Weak transcription	HUVEC	blood vessel
49	chr2:54807800-54812600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:54807800-54812600	Genic enhancers	HepG2	liver

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