Variant report

Variant	rs9991278
Chromosome Location	chr4:10002665-10002666
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10009493	1.00[CHB][hapmap]
rs10020887	1.00[CHB][hapmap]
rs10022911	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1014290	0.83[CEU][hapmap]
rs10516194	1.00[CHB][hapmap]
rs1071988	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10939650	0.83[CEU][hapmap]
rs10939723	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11721682	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11722229	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11723439	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs11735668	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11942223	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12498742	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12507606	1.00[JPT][hapmap]
rs12509955	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs13111638	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs13113918	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap]
rs13125209	1.00[JPT][hapmap]
rs13125646	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13131257	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13145758	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16868246	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16890979	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs17198547	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17251963	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs17385112	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs3733588	0.82[CEU][hapmap]
rs3775948	0.83[CEU][hapmap]
rs4385059	0.86[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap]
rs4475146	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4481233	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs4529048	0.82[CEU][hapmap]
rs4637402	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4639073	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4640669	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs4697700	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4697714	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs4697913	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4697933	1.00[CHB][hapmap]
rs4697939	1.00[CHB][hapmap]
rs5028843	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6449173	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6449213	0.86[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs6827401	1.00[CHB][hapmap]
rs6827946	1.00[CHB][hapmap]
rs6832439	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs6838021	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6855911	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs6856396	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs734553	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs737267	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs7376960	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7377625	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7439210	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7442295	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7663032	0.83[CEU][hapmap]
rs7669607	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap]
rs7670751	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs7680126	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs874432	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9291642	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs938552	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs938554	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs938555	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs938564	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9998811	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533218	chr4:9371016-10252290	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	74 gene(s)	inside rSNPs	diseases
2	nsv530090	chr4:9383695-10165033	Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	nsv1014216	chr4:9713612-10223836	Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
4	nsv1010249	chr4:9716101-10086188	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv878672	chr4:9786732-10008305	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv878677	chr4:9797703-10008305	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878681	chr4:9802853-10397327	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
8	nsv997941	chr4:9805223-10493388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
9	nsv1008649	chr4:9805223-10589802	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
10	nsv1000587	chr4:9805223-10610752	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
11	nsv537022	chr4:9805223-10610752	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers 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	56 gene(s)	inside rSNPs	diseases
12	nsv1003454	chr4:9805223-10710990	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
13	nsv537023	chr4:9805223-10710990	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
14	nsv1004801	chr4:9814720-10674528	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
15	nsv537024	chr4:9814720-10674528	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
16	nsv931483	chr4:9814721-10716463	Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
17	esv2763339	chr4:9858426-10056376	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv878686	chr4:9893403-10008305	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv537026	chr4:9903566-10262258	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
20	nsv1009972	chr4:9903566-10710990	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
21	nsv537027	chr4:9903566-10710990	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription 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	58 gene(s)	inside rSNPs	diseases
22	esv2752052	chr4:9911872-10313111	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
23	nsv878687	chr4:9912101-10008305	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv878688	chr4:9915850-10038112	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv1010620	chr4:9937123-10686682	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
26	nsv878689	chr4:9943185-10008305	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
27	nsv878690	chr4:9944650-10008305	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
28	nsv530280	chr4:9947818-10940041	Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
29	nsv532706	chr4:9948018-10451450	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
30	nsv1013022	chr4:9961220-10230042	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
31	nsv537028	chr4:9961220-10230042	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
32	nsv537029	chr4:9961220-10262258	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription 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	47 gene(s)	inside rSNPs	diseases
33	nsv878691	chr4:9966477-10418078	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
34	nsv1013487	chr4:9972011-10320963	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
35	nsv829857	chr4:9982514-10155835	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
36	nsv469621	chr4:9987670-10142287	Flanking Active TSS Weak transcription Enhancers Strong transcription 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	43 gene(s)	inside rSNPs	diseases
37	nsv482719	chr4:9987670-10142287	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9977800-10003600	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:9980800-10007200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:9982800-10002800	Weak transcription	Gastric	stomach
4	chr4:9987600-10008000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:9991600-10007200	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:9992400-10006800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:9992600-10007200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:9993000-10006800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr4:9993200-10006800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:9993600-10008000	Weak transcription	Left Ventricle	heart
11	chr4:9997600-10007800	Genic enhancers	HepG2	liver
12	chr4:9998200-10002800	Weak transcription	Liver	Liver
13	chr4:9998400-10008200	Weak transcription	Esophagus	oesophagus
14	chr4:9998400-10008400	Weak transcription	Brain Angular Gyrus	brain
15	chr4:9998400-10020400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:9998600-10003000	Weak transcription	Small Intestine	intestine
17	chr4:9998600-10006800	Weak transcription	Lung	lung
18	chr4:9998800-10004400	Weak transcription	Fetal Intestine Large	intestine
19	chr4:9999000-10002800	Weak transcription	Stomach Mucosa	stomach
20	chr4:9999000-10003000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr4:9999000-10007400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr4:9999000-10007400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:9999200-10003200	Weak transcription	Fetal Intestine Small	intestine
24	chr4:9999200-10004400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:10000000-10003600	Weak transcription	Pancreas	Pancrea
26	chr4:10000400-10004400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:10001400-10006000	Enhancers	HMEC	breast
28	chr4:10001400-10007400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:10001600-10003400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:10001600-10003400	Genic enhancers	NHEK	skin
31	chr4:10002200-10003000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr4:10002200-10003000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:10002400-10007400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr4:10002600-10007800	Weak transcription	Aorta	Aorta
35	chr4:10002600-10007800	Enhancers	GM12878-XiMat	blood

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