Variant report

Variant	rs13247134
Chromosome Location	chr7:7688362-7688363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7685666..7688418-chr7:7688824..7691434,2	K562	blood:
2	chr7:7676999..7684981-chr7:7684990..7693882,16	K562	blood:

Variant related genes	Relation type
ENSG00000106399	Chromatin interaction
ENSG00000219545	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12702629	0.85[EUR][1000 genomes]
rs12702633	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13227585	0.82[AMR][1000 genomes]
rs13227682	0.82[AMR][1000 genomes]
rs13229887	0.82[AMR][1000 genomes]
rs13239455	1.00[ASN][1000 genomes]
rs13242410	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17466949	1.00[ASN][1000 genomes]
rs17545831	0.85[EUR][1000 genomes]
rs17545935	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28915992	0.82[AMR][1000 genomes]
rs28916005	0.82[AMR][1000 genomes]
rs28916269	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34674816	0.82[AMR][1000 genomes]
rs34972393	0.80[EUR][1000 genomes]
rs35278933	0.80[EUR][1000 genomes]
rs59693264	0.80[EUR][1000 genomes]
rs62432582	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6974820	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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 target site	59 gene(s)	inside rSNPs	diseases
6	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv1034199	chr7:7617835-7691176	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv606044	chr7:7652372-7727101	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv887479	chr7:7681131-7779091	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv887481	chr7:7681576-7779324	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv887482	chr7:7682439-7785047	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv887483	chr7:7682439-7798217	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7681400-7688600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr7:7681400-7688600	Weak transcription	Ovary	ovary
3	chr7:7681400-7690200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:7681600-7692000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:7681600-7703800	Weak transcription	Stomach Mucosa	stomach
6	chr7:7681600-7710200	Weak transcription	Aorta	Aorta
7	chr7:7681800-7692600	Weak transcription	Primary T cells from cord blood	blood
8	chr7:7681800-7696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:7682000-7689400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:7682000-7690200	Weak transcription	Liver	Liver
11	chr7:7682000-7691000	Weak transcription	Fetal Kidney	kidney
12	chr7:7682000-7692600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:7682000-7694600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:7682000-7694600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:7682000-7694600	Weak transcription	Psoas Muscle	Psoas
16	chr7:7682000-7713800	Weak transcription	Left Ventricle	heart
17	chr7:7682200-7711600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:7682400-7691000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:7682600-7689000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:7682600-7689400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:7682600-7689600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr7:7682800-7689800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:7683600-7690400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr7:7685200-7689400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:7686000-7689600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:7686000-7691000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:7686400-7690400	Weak transcription	Fetal Intestine Large	intestine
28	chr7:7686600-7689000	Weak transcription	Primary B cells from cord blood	blood
29	chr7:7686600-7689200	Weak transcription	Dnd41	blood
30	chr7:7686600-7690400	Weak transcription	Pancreas	Pancrea
31	chr7:7686600-7691000	Weak transcription	Gastric	stomach
32	chr7:7686600-7701200	Weak transcription	Fetal Stomach	stomach
33	chr7:7687600-7688400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr7:7687600-7690200	Weak transcription	Fetal Intestine Small	intestine
35	chr7:7687600-7696200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:7687800-7690200	Weak transcription	Fetal Thymus	thymus
37	chr7:7687800-7691000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr7:7687800-7717400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr7:7688000-7689200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr7:7688000-7690200	Weak transcription	Thymus	Thymus
41	chr7:7688000-7690400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:7688200-7688600	Weak transcription	HepG2	liver
43	chr7:7688200-7690400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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