Variant report

Variant	rs17545831
Chromosome Location	chr7:7689919-7689920
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7685666..7688418-chr7:7688824..7691434,2	K562	blood:
2	chr7:7679155..7682446-chr7:7688919..7692688,4	MCF-7	breast:
3	chr7:7676999..7684981-chr7:7684990..7693882,16	K562	blood:
4	chr7:7682829..7684981-chr7:7688971..7691244,2	K562	blood:

Variant related genes	Relation type
ENSG00000219545	Chromatin interaction
ENSG00000106399	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12702629	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12702632	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12702633	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13225575	1.00[ASN][1000 genomes]
rs13227585	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227675	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227682	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229887	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247134	0.85[EUR][1000 genomes]
rs17545935	0.85[EUR][1000 genomes]
rs17547731	1.00[ASN][1000 genomes]
rs2024374	1.00[ASN][1000 genomes]
rs28915992	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28916005	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34302387	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34674816	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34820918	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34972393	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35202374	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35278933	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36130255	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59693264	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434910	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974820	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7789164	1.00[ASN][1000 genomes]
rs7793870	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7681400-7690200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:7681600-7692000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:7681600-7703800	Weak transcription	Stomach Mucosa	stomach
4	chr7:7681600-7710200	Weak transcription	Aorta	Aorta
5	chr7:7681800-7692600	Weak transcription	Primary T cells from cord blood	blood
6	chr7:7681800-7696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:7682000-7690200	Weak transcription	Liver	Liver
8	chr7:7682000-7691000	Weak transcription	Fetal Kidney	kidney
9	chr7:7682000-7692600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:7682000-7694600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:7682000-7694600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:7682000-7694600	Weak transcription	Psoas Muscle	Psoas
13	chr7:7682000-7713800	Weak transcription	Left Ventricle	heart
14	chr7:7682200-7711600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr7:7682400-7691000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:7683600-7690400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:7686000-7691000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:7686400-7690400	Weak transcription	Fetal Intestine Large	intestine
19	chr7:7686600-7690400	Weak transcription	Pancreas	Pancrea
20	chr7:7686600-7691000	Weak transcription	Gastric	stomach
21	chr7:7686600-7701200	Weak transcription	Fetal Stomach	stomach
22	chr7:7687600-7690200	Weak transcription	Fetal Intestine Small	intestine
23	chr7:7687600-7696200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:7687800-7690200	Weak transcription	Fetal Thymus	thymus
25	chr7:7687800-7691000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:7687800-7717400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr7:7688000-7690200	Weak transcription	Thymus	Thymus
28	chr7:7688000-7690400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:7688200-7690400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:7688400-7690400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:7688600-7690200	Enhancers	HepG2	liver
32	chr7:7689400-7693600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr7:7689600-7692400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr7:7689600-7692400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr7:7689600-7694200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr7:7689800-7691000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr7:7689800-7691800	Enhancers	Rectal Mucosa Donor 29	rectum

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