Variant report

Variant	rs6735512
Chromosome Location	chr2:31463192-31463193
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	chr2:31453246..31458582-chr2:31458844..31463834,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214711	Chromatin interaction
ENSG00000013016	Chromatin interaction

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

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

rs_ID	r²[population]
rs10166615	1.00[EUR][1000 genomes]
rs10177050	1.00[EUR][1000 genomes]
rs10178948	1.00[EUR][1000 genomes]
rs10179054	1.00[EUR][1000 genomes]
rs10183709	1.00[EUR][1000 genomes]
rs10183716	1.00[EUR][1000 genomes]
rs10187343	1.00[EUR][1000 genomes]
rs10210639	1.00[EUR][1000 genomes]
rs12328982	1.00[EUR][1000 genomes]
rs13391292	1.00[EUR][1000 genomes]
rs13391297	1.00[EUR][1000 genomes]
rs13398126	1.00[EUR][1000 genomes]
rs13421107	1.00[EUR][1000 genomes]
rs13429494	1.00[EUR][1000 genomes]
rs57997844	1.00[EUR][1000 genomes]
rs582594	1.00[EUR][1000 genomes]
rs584875	1.00[EUR][1000 genomes]
rs586195	1.00[EUR][1000 genomes]
rs60638976	1.00[EUR][1000 genomes]
rs610240	1.00[EUR][1000 genomes]
rs611964	1.00[EUR][1000 genomes]
rs643137	1.00[EUR][1000 genomes]
rs643577	1.00[EUR][1000 genomes]
rs6543623	1.00[EUR][1000 genomes]
rs6543624	1.00[EUR][1000 genomes]
rs73925235	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430635	chr2:31420415-31464385	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1009712	chr2:31424588-31468364	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1000416	chr2:31424588-31470845	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv581268	chr2:31425783-31467079	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1001299	chr2:31428030-31464385	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv430646	chr2:31428030-31464385	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31457600-31470800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:31457800-31467000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:31457800-31470600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:31457800-31472200	Weak transcription	Gastric	stomach
5	chr2:31457800-31485800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:31457800-31491200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:31458000-31470600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:31458000-31475600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:31458000-31479000	Weak transcription	Primary T cells from cord blood	blood
10	chr2:31458000-31479400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:31458000-31483400	Weak transcription	Ovary	ovary
12	chr2:31458200-31467000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:31458200-31469000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:31458200-31479200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:31458200-31479200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:31458200-31479200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:31458200-31489000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:31458400-31471000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:31458400-31476600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:31458400-31486000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr2:31458800-31483400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:31458800-31490200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:31458800-31493600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr2:31459200-31464600	Weak transcription	Primary B cells from cord blood	blood
25	chr2:31459200-31467200	Weak transcription	Fetal Brain Male	brain
26	chr2:31459400-31498600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:31459600-31463600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:31459600-31473600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:31459600-31476200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:31459800-31463200	Enhancers	Fetal Heart	heart
31	chr2:31459800-31479400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:31460000-31463600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr2:31460000-31479400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:31460800-31463600	Enhancers	Brain Substantia Nigra	brain
35	chr2:31461000-31463600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:31461000-31464200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:31461000-31464200	Enhancers	Lung	lung
38	chr2:31461000-31464400	Enhancers	Right Atrium	heart
39	chr2:31461000-31464600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:31461000-31464800	Enhancers	Aorta	Aorta
41	chr2:31461000-31465200	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
42	chr2:31461000-31465200	Enhancers	Left Ventricle	heart
43	chr2:31461000-31465200	Enhancers	Right Ventricle	heart
44	chr2:31461000-31471400	Weak transcription	Fetal Intestine Small	intestine
45	chr2:31461200-31463800	Enhancers	Placenta	Placenta
46	chr2:31461400-31465200	Enhancers	Brain Angular Gyrus	brain
47	chr2:31461400-31465200	Enhancers	Fetal Muscle Leg	muscle
48	chr2:31461400-31465400	Enhancers	Fetal Muscle Trunk	muscle
49	chr2:31461600-31463200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:31461600-31463600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin

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