Variant report

Variant	rs7002260
Chromosome Location	chr8:103419324-103419325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103411798..103414097-chr8:103416318..103420383,4	MCF-7	breast:
2	chr8:103373349..103376226-chr8:103418775..103421035,2	K562	blood:
3	chr8:103419173..103421131-chr8:103596356..103598613,2	MCF-7	breast:
4	chr8:103401111..103403412-chr8:103418397..103420245,2	K562	blood:

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs16869317	1.00[EUR][1000 genomes]
rs16869318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16869320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16869360	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16869384	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16869390	1.00[EUR][1000 genomes]
rs16869421	1.00[EUR][1000 genomes]
rs28927984	1.00[EUR][1000 genomes]
rs58936362	1.00[EUR][1000 genomes]
rs60133998	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60370901	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6982960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7006719	1.00[EUR][1000 genomes]
rs73283367	1.00[EUR][1000 genomes]
rs73283374	1.00[EUR][1000 genomes]
rs73283377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283386	1.00[EUR][1000 genomes]
rs73283395	1.00[EUR][1000 genomes]
rs73283398	1.00[EUR][1000 genomes]
rs73283402	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285212	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285216	1.00[EUR][1000 genomes]
rs73285234	1.00[EUR][1000 genomes]
rs73285253	1.00[EUR][1000 genomes]
rs73285256	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285260	0.85[AFR][1000 genomes]
rs73285272	1.00[EUR][1000 genomes]
rs73285276	1.00[EUR][1000 genomes]
rs73285278	1.00[EUR][1000 genomes]
rs73285292	1.00[EUR][1000 genomes]
rs73285300	1.00[EUR][1000 genomes]
rs7813561	1.00[EUR][1000 genomes]
rs7819190	1.00[EUR][1000 genomes]
rs7844478	1.00[EUR][1000 genomes]
rs7845522	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
6	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103369800-103421000	Weak transcription	Colonic Mucosa	Colon
2	chr8:103395800-103420800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:103395800-103422200	Weak transcription	HSMMtube	muscle
4	chr8:103397400-103420800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:103398600-103420800	Weak transcription	Esophagus	oesophagus
6	chr8:103403400-103420000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:103403400-103423000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:103407600-103421000	Weak transcription	Spleen	Spleen
9	chr8:103408400-103421000	Weak transcription	Thymus	Thymus
10	chr8:103408400-103422400	Weak transcription	Small Intestine	intestine
11	chr8:103408800-103422000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr8:103410000-103420200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:103410600-103422400	Weak transcription	Fetal Kidney	kidney
14	chr8:103410800-103422800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:103411000-103420800	Weak transcription	Fetal Stomach	stomach
16	chr8:103412000-103420800	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:103412800-103423200	Weak transcription	Lung	lung
18	chr8:103413200-103422000	Weak transcription	Fetal Intestine Large	intestine
19	chr8:103413800-103420800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:103414000-103420000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:103414000-103421000	Weak transcription	Gastric	stomach
22	chr8:103414000-103422000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:103414000-103423000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:103414400-103419800	Weak transcription	Right Ventricle	heart
25	chr8:103414600-103419400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:103414600-103421000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:103414600-103422000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:103415000-103420000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:103415000-103420000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:103415000-103420200	Weak transcription	Fetal Brain Male	brain
31	chr8:103415000-103420600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:103415200-103419800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:103415200-103420000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:103415200-103420200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:103415400-103420600	Weak transcription	Fetal Brain Female	brain
36	chr8:103415600-103419400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr8:103415600-103419400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:103415600-103419800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:103415600-103419800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:103415600-103422400	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr8:103415800-103419800	Weak transcription	Left Ventricle	heart
42	chr8:103416000-103422400	Enhancers	Adipose Nuclei	Adipose
43	chr8:103416200-103420000	Weak transcription	Brain Angular Gyrus	brain
44	chr8:103416200-103421000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:103416400-103419800	Weak transcription	Dnd41	blood
46	chr8:103416400-103419800	Weak transcription	K562	blood
47	chr8:103416400-103420000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr8:103416400-103420000	Weak transcription	Brain Anterior Caudate	brain
49	chr8:103416400-103420200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:103416400-103420400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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