Variant report

Variant	rs7690977
Chromosome Location	chr4:151781297-151781298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10000193	0.86[EUR][1000 genomes]
rs10006912	0.90[EUR][1000 genomes]
rs10018648	0.86[EUR][1000 genomes]
rs10027710	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[YRI][hapmap];0.86[EUR][1000 genomes]
rs10028965	0.83[EUR][1000 genomes]
rs10520078	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs11099780	0.90[EUR][1000 genomes]
rs11099781	1.00[ASW][hapmap];0.87[JPT][hapmap];0.92[LWK][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs1148656	0.81[JPT][hapmap]
rs11934912	0.90[EUR][1000 genomes]
rs12505967	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs12640376	0.88[EUR][1000 genomes]
rs12641297	1.00[ASW][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap];0.96[LWK][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13103081	0.88[EUR][1000 genomes]
rs13112801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13119454	0.83[EUR][1000 genomes]
rs13125957	0.88[EUR][1000 genomes]
rs13126862	0.90[EUR][1000 genomes]
rs13128052	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13130300	0.86[EUR][1000 genomes]
rs13145482	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.88[EUR][1000 genomes]
rs1365380	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1451633	0.86[EUR][1000 genomes]
rs1451635	0.86[EUR][1000 genomes]
rs1470763	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1549512	1.00[ASW][hapmap];0.87[JPT][hapmap];0.92[LWK][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs186080	0.87[CEU][hapmap];0.86[GIH][hapmap]
rs1993109	0.88[EUR][1000 genomes]
rs2098927	0.87[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2407548	0.90[EUR][1000 genomes]
rs2407549	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs294532	0.86[GIH][hapmap]
rs4235251	0.84[EUR][1000 genomes]
rs4318628	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.88[EUR][1000 genomes]
rs4336207	0.95[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap]
rs4455394	0.86[EUR][1000 genomes]
rs4501201	0.86[EUR][1000 genomes]
rs4696220	0.83[GIH][hapmap]
rs4696631	0.86[EUR][1000 genomes]
rs4696636	0.98[ASN][1000 genomes]
rs4696637	0.98[ASN][1000 genomes]
rs4696640	0.90[EUR][1000 genomes]
rs4696649	0.80[EUR][1000 genomes]
rs6535754	0.96[ASN][1000 genomes]
rs6822633	0.88[EUR][1000 genomes]
rs6825077	0.99[ASN][1000 genomes]
rs6834834	0.86[EUR][1000 genomes]
rs6835970	0.85[EUR][1000 genomes]
rs6836017	0.86[GIH][hapmap]
rs6836854	0.85[ASN][1000 genomes]
rs6837840	0.86[EUR][1000 genomes]
rs6848445	0.85[EUR][1000 genomes]
rs6854299	0.85[EUR][1000 genomes]
rs7441414	0.81[EUR][1000 genomes]
rs7665654	0.90[EUR][1000 genomes]
rs7691797	0.90[EUR][1000 genomes]
rs7693278	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7698070	0.92[ASN][1000 genomes]
rs896405	0.86[EUR][1000 genomes]
rs9307879	0.84[EUR][1000 genomes]
rs9884181	0.95[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap]
rs9997773	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1018404	chr4:151664438-152067409	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1017850	chr4:151664438-152071876	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	esv2763837	chr4:151664438-152071888	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
9	nsv870257	chr4:151665349-152072867	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
10	nsv1015387	chr4:151673751-152071876	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
11	nsv526976	chr4:151675819-152055073	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	nsv1025077	chr4:151682266-152035733	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	nsv537303	chr4:151682266-152035733	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv949066	chr4:151693149-152069566	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
16	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
17	nsv1031720	chr4:151708502-152071876	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
18	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
19	nsv1031516	chr4:151718614-152065644	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
20	nsv537304	chr4:151718614-152065644	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
21	nsv1022884	chr4:151718814-152065505	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
22	nsv537305	chr4:151718814-152065505	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
23	nsv880576	chr4:151751369-151936149	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
24	nsv595688	chr4:151776717-151804857	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151743800-151795600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:151748400-151795600	Weak transcription	Brain Angular Gyrus	brain
3	chr4:151749800-151787800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:151749800-151795400	Weak transcription	Right Ventricle	heart
5	chr4:151749800-151795600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:151749800-151795600	Weak transcription	Gastric	stomach
7	chr4:151749800-151806800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:151750200-151824200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:151750400-151795800	Weak transcription	Fetal Stomach	stomach
10	chr4:151750800-151795600	Weak transcription	Thymus	Thymus
11	chr4:151754200-151795400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:151759600-151784200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:151761800-151794400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:151761800-151795600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:151762200-151795600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:151763800-151823800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:151764400-151795400	Weak transcription	Fetal Intestine Large	intestine
18	chr4:151764400-151795400	Weak transcription	Pancreas	Pancrea
19	chr4:151767600-151806600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:151769800-151782200	Weak transcription	Fetal Intestine Small	intestine
21	chr4:151770800-151790600	Weak transcription	HUVEC	blood vessel
22	chr4:151770800-151795600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:151771000-151795400	Weak transcription	HMEC	breast
24	chr4:151771000-151797400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr4:151772600-151806400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr4:151773200-151794600	Weak transcription	Placenta	Placenta
27	chr4:151773400-151784200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:151773400-151795600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:151773600-151791600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:151773600-151797400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:151773600-151813000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:151773600-151813400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr4:151773800-151791000	Weak transcription	Liver	Liver
34	chr4:151773800-151791600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr4:151773800-151795600	Weak transcription	GM12878-XiMat	blood
36	chr4:151773800-151800800	Weak transcription	Hela-S3	cervix
37	chr4:151773800-151813800	Weak transcription	Fetal Kidney	kidney
38	chr4:151773800-151824600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:151774000-151782000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:151774000-151787400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:151774000-151788200	Weak transcription	Brain Hippocampus Middle	brain
42	chr4:151774000-151788800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:151774000-151788800	Weak transcription	Fetal Thymus	thymus
44	chr4:151774000-151789000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr4:151774000-151789200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:151774000-151791200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr4:151774000-151795400	Weak transcription	Left Ventricle	heart
48	chr4:151774000-151795400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr4:151774000-151796200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr4:151774000-151796200	Weak transcription	K562	blood

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