Variant report

Variant	rs71603977
Chromosome Location	chr4:9949386-9949387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10516195	0.92[EUR][1000 genomes]
rs12641340	0.84[EUR][1000 genomes]
rs12642431	0.81[EUR][1000 genomes]
rs12646380	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13101688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13101772	0.92[EUR][1000 genomes]
rs13112998	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13113006	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13114090	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13116337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13117275	0.84[EUR][1000 genomes]
rs13118801	0.92[EUR][1000 genomes]
rs13121355	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13125476	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13127090	0.92[EUR][1000 genomes]
rs13132625	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13139970	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13141527	0.92[EUR][1000 genomes]
rs13144899	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13145108	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13151113	0.84[EUR][1000 genomes]
rs13151331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16868271	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16891285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16891489	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16891923	0.92[EUR][1000 genomes]
rs16891926	0.92[EUR][1000 genomes]
rs2012177	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34245354	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34407859	0.90[EUR][1000 genomes]
rs34560968	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34644460	0.81[EUR][1000 genomes]
rs34658962	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35110076	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35271694	0.81[EUR][1000 genomes]
rs35371429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35380388	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35817865	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35922993	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35933067	0.92[EUR][1000 genomes]
rs36058283	0.84[EUR][1000 genomes]
rs3733589	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3756235	0.84[EUR][1000 genomes]
rs3775946	0.80[ASN][1000 genomes]
rs3796831	0.84[EUR][1000 genomes]
rs3796840	0.84[EUR][1000 genomes]
rs4312756	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4333184	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4364264	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4467565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4502681	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs66647240	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67968745	0.84[EUR][1000 genomes]
rs68013308	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6822988	0.81[EUR][1000 genomes]
rs71603975	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71603978	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71603979	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73100632	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7660895	0.87[ASN][1000 genomes]
rs7679724	0.87[ASN][1000 genomes]
rs9994216	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:36 , 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	nsv878676	chr4:9797703-9978094	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	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
8	nsv1007593	chr4:9802146-9956285	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	nsv1004311	chr4:9825814-9978414	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv998425	chr4:9834666-9961280	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	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
22	nsv878684	chr4:9863698-9998440	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	nsv525177	chr4:9930962-9950705	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv1003496	chr4:9930962-9956285	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
32	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
33	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
34	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
35	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
36	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9911400-9979800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:9926400-9951600	Weak transcription	Spleen	Spleen
3	chr4:9928000-9960000	Weak transcription	Esophagus	oesophagus
4	chr4:9930800-9952200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr4:9930800-9953800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr4:9933600-9951200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:9938200-9957600	Weak transcription	Fetal Stomach	stomach
8	chr4:9939600-9956600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:9941400-9953200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:9942000-9949400	Weak transcription	Ovary	ovary
11	chr4:9944000-9979400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:9944600-9964400	Weak transcription	HMEC	breast
13	chr4:9947400-9950000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:9947400-9951800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:9947600-9955800	Weak transcription	Fetal Intestine Large	intestine
16	chr4:9947800-9949400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr4:9948000-9949600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:9948000-9949800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr4:9948400-9950200	Enhancers	Stomach Mucosa	stomach
20	chr4:9948600-9949400	Enhancers	Fetal Intestine Small	intestine
21	chr4:9948600-9949600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr4:9948600-9949800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr4:9948600-9950200	Enhancers	Left Ventricle	heart
24	chr4:9948600-9950200	Enhancers	Right Ventricle	heart
25	chr4:9948600-9950400	Enhancers	Pancreas	Pancrea
26	chr4:9948600-9950400	Enhancers	Right Atrium	heart
27	chr4:9948600-9950800	Genic enhancers	HepG2	liver
28	chr4:9948800-9949400	Enhancers	Fetal Heart	heart
29	chr4:9948800-9949800	Enhancers	Liver	Liver
30	chr4:9948800-9950000	Enhancers	Psoas Muscle	Psoas
31	chr4:9948800-9950200	Enhancers	Gastric	stomach
32	chr4:9949000-9958400	Weak transcription	NHEK	skin
33	chr4:9949200-9949400	Enhancers	Duodenum Mucosa	Duodenum
34	chr4:9949200-9949400	Enhancers	Fetal Muscle Trunk	muscle
35	chr4:9949200-9949600	Enhancers	Small Intestine	intestine

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