Variant report

Variant	rs7567443
Chromosome Location	chr2:73751772-73751773
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10192708	0.86[EUR][1000 genomes]
rs10496189	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11884364	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890811	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11900562	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466032	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12475442	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475618	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12477496	0.85[AMR][1000 genomes]
rs12479158	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479243	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1358452	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1403283	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009036	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17009051	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17009061	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17009070	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17848867	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881244	1.00[ASN][1000 genomes]
rs2140194	1.00[ASN][1000 genomes]
rs28730853	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2901451	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34617744	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34735981	1.00[ASN][1000 genomes]
rs36057913	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55745821	0.85[AMR][1000 genomes]
rs60130127	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61335053	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708480	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711285	1.00[ASN][1000 genomes]
rs6718672	1.00[ASN][1000 genomes]
rs6723002	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723245	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725385	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734298	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735139	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737693	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746054	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751876	1.00[ASN][1000 genomes]
rs6752342	1.00[ASN][1000 genomes]
rs6752620	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759120	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72635972	1.00[EUR][1000 genomes]
rs72635973	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558613	1.00[ASN][1000 genomes]
rs7571147	1.00[ASN][1000 genomes]
rs7574950	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577699	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7587537	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7599369	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7600935	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603754	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7608706	0.86[EUR][1000 genomes];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	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv874267	chr2:73717656-73857002	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73713200-73757400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:73715600-73751800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:73717400-73757800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:73731600-73759000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:73731800-73752000	Weak transcription	Fetal Heart	heart
6	chr2:73731800-73807600	Weak transcription	Hela-S3	cervix
7	chr2:73736400-73761600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:73739400-73756400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:73740800-73752600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:73740800-73752800	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:73740800-73753800	Weak transcription	Brain Angular Gyrus	brain
12	chr2:73740800-73757600	Weak transcription	Ovary	ovary
13	chr2:73741000-73751800	Weak transcription	Fetal Kidney	kidney
14	chr2:73741000-73752200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:73741000-73752200	Weak transcription	Brain Substantia Nigra	brain
16	chr2:73741000-73752200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:73741000-73752600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:73741000-73755000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:73741000-73755600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:73741000-73756200	Weak transcription	Fetal Intestine Small	intestine
21	chr2:73741000-73756400	Weak transcription	Thymus	Thymus
22	chr2:73741000-73757200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:73741000-73757400	Weak transcription	Aorta	Aorta
24	chr2:73741000-73757400	Weak transcription	Pancreas	Pancrea
25	chr2:73741000-73757600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:73741000-73757800	Weak transcription	Gastric	stomach
27	chr2:73741000-73758800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:73741000-73759400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:73741000-73767400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:73741200-73751800	Weak transcription	Brain Germinal Matrix	brain
31	chr2:73741200-73751800	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:73741200-73752000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:73741200-73752000	Weak transcription	Primary B cells from cord blood	blood
34	chr2:73741200-73752000	Weak transcription	Brain Anterior Caudate	brain
35	chr2:73741200-73752400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:73741200-73757400	Weak transcription	Fetal Stomach	stomach
37	chr2:73741200-73757600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:73744200-73759000	Weak transcription	HSMMtube	muscle
39	chr2:73744200-73799800	Weak transcription	NH-A	brain
40	chr2:73744600-73751800	Weak transcription	Fetal Brain Female	brain
41	chr2:73744600-73764400	Weak transcription	HSMM	muscle
42	chr2:73744800-73756600	Weak transcription	Fetal Brain Male	brain
43	chr2:73745200-73752000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:73745400-73752200	Weak transcription	HepG2	liver
45	chr2:73745400-73756200	Weak transcription	Fetal Thymus	thymus
46	chr2:73745600-73752000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:73745600-73752200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:73745600-73756400	Weak transcription	A549	lung
49	chr2:73745600-73757400	Weak transcription	Placenta	Placenta
50	chr2:73746000-73765200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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