Variant report

Variant	rs13270313
Chromosome Location	chr8:118852373-118852374
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	chr8:118850709..118853319-chr8:119121179..119123815,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10104591	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13270460	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4262351	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4322034	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4490876	1.00[MEX][hapmap]
rs4509363	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4612367	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[ASN][1000 genomes]
rs4876394	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6469713	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[ASN][1000 genomes]
rs7000499	0.90[YRI][hapmap]
rs7836010	1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[ASN][1000 genomes]
rs9643118	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118817200-118852400	Weak transcription	Psoas Muscle	Psoas
2	chr8:118817200-118852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:118825200-118859600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:118825200-118859800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:118825400-118852400	Weak transcription	Right Ventricle	heart
6	chr8:118825400-118853200	Weak transcription	Brain Anterior Caudate	brain
7	chr8:118825400-118859000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:118825600-118857200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:118825600-118860000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:118827200-118855000	Weak transcription	Right Atrium	heart
11	chr8:118828600-118857000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:118829800-118855000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:118829800-118859800	Weak transcription	Esophagus	oesophagus
14	chr8:118832200-118854800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr8:118832400-118854000	Weak transcription	Gastric	stomach
16	chr8:118832400-118855000	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:118832600-118854400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:118832600-118855000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr8:118832600-118859800	Weak transcription	Spleen	Spleen
20	chr8:118833000-118855000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:118833200-118854600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr8:118835000-118859600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:118835000-118859600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:118841200-118855000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:118841400-118854600	Weak transcription	Thymus	Thymus
26	chr8:118841600-118857200	Weak transcription	Fetal Intestine Large	intestine
27	chr8:118844200-118857200	Weak transcription	Fetal Intestine Small	intestine
28	chr8:118845400-118859600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:118846000-118853000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:118846600-118861800	Weak transcription	HUVEC	blood vessel
31	chr8:118846800-118855000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:118848000-118853000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:118848000-118853200	Weak transcription	Ovary	ovary
34	chr8:118848000-118855000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr8:118848000-118859800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:118848200-118859600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:118848400-118859800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:118848600-118852400	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:118848800-118855000	Weak transcription	Lung	lung
40	chr8:118848800-118858000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:118849000-118852400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:118849000-118857200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:118849000-118859000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr8:118849200-118859000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr8:118849400-118854600	Weak transcription	Primary T cells from cord blood	blood
46	chr8:118849400-118856200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:118849400-118857000	Weak transcription	Pancreas	Pancrea
48	chr8:118849400-118859000	Weak transcription	Fetal Stomach	stomach
49	chr8:118849600-118853400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:118849600-118855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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