Variant report

Variant	rs6822988
Chromosome Location	chr4:10012210-10012211
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:10008415..10010213-chr4:10011796..10014245,2	K562	blood:
2	chr4:10007258..10010277-chr4:10010409..10012241,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250413	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10016075	0.89[ASN][1000 genomes]
rs10018666	0.89[ASN][1000 genomes]
rs10022499	0.89[ASN][1000 genomes]
rs10023068	0.89[ASN][1000 genomes]
rs10461113	0.85[ASN][1000 genomes]
rs10516195	0.90[EUR][1000 genomes]
rs10939650	0.80[ASN][1000 genomes]
rs12641340	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12642431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12646380	0.90[EUR][1000 genomes]
rs13101688	0.81[EUR][1000 genomes]
rs13101772	0.90[EUR][1000 genomes]
rs13106922	0.84[ASN][1000 genomes]
rs13112998	0.81[EUR][1000 genomes]
rs13113006	0.81[EUR][1000 genomes]
rs13114090	0.81[EUR][1000 genomes]
rs13114106	0.84[ASN][1000 genomes]
rs13116337	0.81[EUR][1000 genomes]
rs13117275	0.97[EUR][1000 genomes]
rs13118801	0.90[EUR][1000 genomes]
rs13121355	0.81[EUR][1000 genomes]
rs13122112	0.84[ASN][1000 genomes]
rs13127090	0.90[EUR][1000 genomes]
rs13141527	0.90[EUR][1000 genomes]
rs13145108	0.81[EUR][1000 genomes]
rs13148476	0.83[ASN][1000 genomes]
rs13151113	0.97[EUR][1000 genomes]
rs13151331	0.81[EUR][1000 genomes]
rs16868271	0.90[EUR][1000 genomes]
rs16891285	0.81[EUR][1000 genomes]
rs16891489	0.81[EUR][1000 genomes]
rs16891923	0.90[EUR][1000 genomes]
rs16891926	0.90[EUR][1000 genomes]
rs2012177	0.81[EUR][1000 genomes]
rs2240723	0.84[ASN][1000 genomes]
rs2276962	0.84[EUR][1000 genomes]
rs2276963	0.84[ASN][1000 genomes]
rs34245354	0.81[EUR][1000 genomes]
rs34407859	0.87[EUR][1000 genomes]
rs34560968	0.81[EUR][1000 genomes]
rs34644460	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34658962	0.81[EUR][1000 genomes]
rs35110076	0.81[EUR][1000 genomes]
rs35201034	0.94[ASN][1000 genomes]
rs35271694	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35371429	0.81[EUR][1000 genomes]
rs35380388	0.81[EUR][1000 genomes]
rs35922993	0.81[EUR][1000 genomes]
rs35933067	0.90[EUR][1000 genomes]
rs36058283	0.97[EUR][1000 genomes]
rs3733589	0.90[EUR][1000 genomes]
rs3756233	0.83[ASN][1000 genomes]
rs3756234	0.84[ASN][1000 genomes]
rs3756235	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775939	0.81[ASN][1000 genomes]
rs3775941	0.83[ASN][1000 genomes]
rs3775942	0.82[ASN][1000 genomes]
rs3775943	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775944	0.92[ASN][1000 genomes]
rs3796831	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3796838	0.93[ASN][1000 genomes]
rs3796840	0.97[EUR][1000 genomes]
rs4312756	0.81[EUR][1000 genomes]
rs4345181	0.86[EUR][1000 genomes]
rs4467565	0.81[EUR][1000 genomes]
rs59234705	0.83[ASN][1000 genomes]
rs66647240	0.90[EUR][1000 genomes]
rs67968745	0.97[EUR][1000 genomes]
rs68013308	0.90[EUR][1000 genomes]
rs6820616	0.83[ASN][1000 genomes]
rs6853437	0.89[ASN][1000 genomes]
rs71603977	0.81[EUR][1000 genomes]
rs71603978	0.81[EUR][1000 genomes]
rs73100632	0.90[EUR][1000 genomes]
rs7657096	0.90[ASN][1000 genomes]
rs7666545	0.95[ASN][1000 genomes]
rs9291640	0.89[ASN][1000 genomes]
rs9291641	0.87[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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9998400-10020400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:10007600-10012800	Enhancers	Fetal Stomach	stomach
3	chr4:10007600-10013200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:10008000-10012600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:10008600-10013400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:10008600-10013400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:10008600-10019600	Weak transcription	Right Ventricle	heart
8	chr4:10008600-10020200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:10008800-10020200	Weak transcription	Aorta	Aorta
10	chr4:10008800-10020400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:10009000-10019800	Weak transcription	Left Ventricle	heart
12	chr4:10009000-10020400	Weak transcription	Lung	lung
13	chr4:10009400-10012400	Genic enhancers	HMEC	breast
14	chr4:10009400-10020000	Weak transcription	Colonic Mucosa	Colon
15	chr4:10009600-10013800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr4:10009600-10015200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:10009800-10019600	Weak transcription	Placenta	Placenta
18	chr4:10010000-10019800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:10010000-10020200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr4:10010000-10020400	Weak transcription	Esophagus	oesophagus
21	chr4:10010000-10021200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:10010200-10013000	Weak transcription	Liver	Liver
23	chr4:10010400-10012800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr4:10010400-10016000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr4:10010400-10018000	Genic enhancers	HepG2	liver
26	chr4:10010400-10019600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:10010400-10019600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr4:10010600-10012800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:10010600-10013000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:10010600-10019600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr4:10010800-10016800	Weak transcription	Pancreas	Pancrea
32	chr4:10011000-10013400	Enhancers	GM12878-XiMat	blood
33	chr4:10011000-10015400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr4:10011000-10019600	Weak transcription	Brain Anterior Caudate	brain
35	chr4:10011000-10019800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr4:10011000-10020000	Weak transcription	Stomach Mucosa	stomach
37	chr4:10011000-10020200	Weak transcription	Right Atrium	heart
38	chr4:10011600-10012400	Strong transcription	Fetal Intestine Large	intestine
39	chr4:10011600-10012800	Genic enhancers	NHEK	skin
40	chr4:10011600-10013600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:10011800-10017200	Weak transcription	HSMMtube	muscle
42	chr4:10011800-10019800	Weak transcription	Brain Substantia Nigra	brain
43	chr4:10011800-10020400	Weak transcription	Gastric	stomach
44	chr4:10012000-10013000	Strong transcription	Fetal Intestine Small	intestine
45	chr4:10012000-10013000	Weak transcription	K562	blood
46	chr4:10012000-10015600	Weak transcription	Fetal Muscle Leg	muscle
47	chr4:10012200-10012400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:10012200-10012400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr4:10012200-10016200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr4:10012200-10020200	Weak transcription	Brain Hippocampus Middle	brain

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