Variant report

Variant	rs67968745
Chromosome Location	chr4:10008749-10008750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:10008717..10011087-chr4:10117692..10120073,3	MCF-7	breast:
2	chr4:10008545..10009273-chr4:10020464..10021005,2	MCF-7	breast:
3	chr4:9957351..9959521-chr4:10008550..10011275,2	MCF-7	breast:
4	chr4:10008558..10010473-chr4:10063451..10065782,2	MCF-7	breast:
5	chr4:9924672..9926796-chr4:10008145..10009788,2	MCF-7	breast:
6	chr4:10008415..10010213-chr4:10011796..10014245,2	K562	blood:

Variant related genes	Relation type
ENSG00000071127	Chromatin interaction
ENSG00000109667	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10018663	0.92[ASN][1000 genomes]
rs1014290	0.89[ASN][1000 genomes]
rs10516195	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11943372	0.86[ASN][1000 genomes]
rs12641340	1.00[EUR][1000 genomes]
rs12642431	0.97[EUR][1000 genomes]
rs12646380	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13101688	0.84[EUR][1000 genomes]
rs13101772	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13112998	0.84[EUR][1000 genomes]
rs13113006	0.84[EUR][1000 genomes]
rs13114090	0.84[EUR][1000 genomes]
rs13116337	0.84[EUR][1000 genomes]
rs13117275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13118801	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13121355	0.84[EUR][1000 genomes]
rs13127090	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13141527	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13145108	0.84[EUR][1000 genomes]
rs13151113	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13151331	0.84[EUR][1000 genomes]
rs16868271	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16891285	0.84[EUR][1000 genomes]
rs16891489	0.84[EUR][1000 genomes]
rs16891923	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16891926	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16892069	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2012177	0.83[EUR][1000 genomes]
rs2276962	0.86[EUR][1000 genomes]
rs34245354	0.84[EUR][1000 genomes]
rs34407859	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34560968	0.84[EUR][1000 genomes]
rs34644460	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34658962	0.83[EUR][1000 genomes]
rs35110076	0.84[EUR][1000 genomes]
rs35271694	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35371429	0.84[EUR][1000 genomes]
rs35380388	0.84[EUR][1000 genomes]
rs35922993	0.83[EUR][1000 genomes]
rs35933067	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36058283	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3733588	0.86[ASN][1000 genomes]
rs3733589	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3733590	0.88[ASN][1000 genomes]
rs3756231	0.82[EUR][1000 genomes]
rs3756235	1.00[EUR][1000 genomes]
rs3775946	0.84[ASN][1000 genomes]
rs3775947	0.83[ASN][1000 genomes]
rs3775948	0.82[ASN][1000 genomes]
rs3775949	0.88[ASN][1000 genomes]
rs3796831	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3796835	0.85[ASN][1000 genomes]
rs3796840	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4312756	0.84[EUR][1000 genomes]
rs4333184	0.81[EUR][1000 genomes]
rs4345181	0.89[EUR][1000 genomes]
rs4467565	0.84[EUR][1000 genomes]
rs4502681	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4529048	0.85[ASN][1000 genomes]
rs66647240	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs68013308	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6822988	0.97[EUR][1000 genomes]
rs6836200	0.88[ASN][1000 genomes]
rs6849736	0.88[ASN][1000 genomes]
rs6849962	0.88[ASN][1000 genomes]
rs71603975	0.81[EUR][1000 genomes]
rs71603977	0.84[EUR][1000 genomes]
rs71603978	0.84[EUR][1000 genomes]
rs73100621	0.88[ASN][1000 genomes]
rs73100632	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs751092	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	nsv1008067	chr4:10004664-10262258	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
33	nsv537030	chr4:10004664-10262258	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS 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	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9998400-10020400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:10004400-10010200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:10006800-10009000	Enhancers	Lung	lung
4	chr4:10006800-10009600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr4:10006800-10010200	Enhancers	Small Intestine	intestine
6	chr4:10006800-10010400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr4:10006800-10012000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:10007000-10010000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr4:10007000-10010400	Enhancers	Fetal Intestine Large	intestine
10	chr4:10007000-10010400	Enhancers	Right Atrium	heart
11	chr4:10007000-10012000	Enhancers	Fetal Muscle Leg	muscle
12	chr4:10007200-10009000	Enhancers	Colon Smooth Muscle	Colon
13	chr4:10007200-10009200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr4:10007200-10010000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:10007200-10010000	Enhancers	HUVEC	blood vessel
16	chr4:10007200-10011000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr4:10007200-10011200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:10007200-10012200	Enhancers	Fetal Lung	lung
19	chr4:10007400-10008800	Enhancers	Fetal Intestine Small	intestine
20	chr4:10007400-10009000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:10007400-10009200	Enhancers	Primary B cells from cord blood	blood
22	chr4:10007400-10009200	Enhancers	Hela-S3	cervix
23	chr4:10007400-10009400	Enhancers	Primary B cells from peripheral blood	blood
24	chr4:10007400-10009400	Enhancers	Osteobl	bone
25	chr4:10007400-10009800	Enhancers	Fetal Kidney	kidney
26	chr4:10007400-10009800	Enhancers	Placenta	Placenta
27	chr4:10007400-10010000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr4:10007400-10010000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr4:10007400-10010400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr4:10007400-10010600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:10007400-10010800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:10007400-10010800	Enhancers	Pancreas	Pancrea
33	chr4:10007600-10009000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr4:10007600-10010600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:10007600-10011600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:10007600-10012800	Enhancers	Fetal Stomach	stomach
37	chr4:10007600-10013200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr4:10007800-10008800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:10007800-10008800	Enhancers	Aorta	Aorta
40	chr4:10007800-10008800	Flanking Active TSS	Liver	Liver
41	chr4:10007800-10009400	Flanking Active TSS	Stomach Mucosa	stomach
42	chr4:10007800-10009400	Enhancers	HMEC	breast
43	chr4:10007800-10009400	Enhancers	NH-A	brain
44	chr4:10007800-10009800	Enhancers	Brain Substantia Nigra	brain
45	chr4:10007800-10010200	Enhancers	HSMM	muscle
46	chr4:10007800-10010600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:10007800-10011000	Flanking Active TSS	GM12878-XiMat	blood
48	chr4:10008000-10008800	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr4:10008000-10008800	Enhancers	Spleen	Spleen
50	chr4:10008000-10009000	Enhancers	Left Ventricle	heart

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