Variant report

Variant	rs6711423
Chromosome Location	chr2:172012079-172012080
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:170655317..170656996-chr2:172011649..172014021,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138385	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10173931	0.80[EUR][1000 genomes]
rs13389859	0.88[EUR][1000 genomes]
rs16859087	0.80[EUR][1000 genomes]
rs16859121	0.80[EUR][1000 genomes]
rs16859167	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16859176	0.88[EUR][1000 genomes]
rs16859177	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2356600	0.86[EUR][1000 genomes]
rs2356609	0.88[EUR][1000 genomes]
rs2723245	0.80[EUR][1000 genomes]
rs2723248	0.80[EUR][1000 genomes]
rs55644524	0.86[EUR][1000 genomes]
rs55885449	0.84[EUR][1000 genomes]
rs55939429	0.88[EUR][1000 genomes]
rs55991728	0.82[EUR][1000 genomes]
rs55995602	0.86[EUR][1000 genomes]
rs55997598	0.86[EUR][1000 genomes]
rs56004444	0.88[EUR][1000 genomes]
rs56134465	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56155163	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56155601	0.86[EUR][1000 genomes]
rs56243805	0.82[EUR][1000 genomes]
rs56267332	0.84[EUR][1000 genomes]
rs56308745	0.86[EUR][1000 genomes]
rs56382502	0.88[EUR][1000 genomes]
rs56934523	0.88[EUR][1000 genomes]
rs57733560	0.88[EUR][1000 genomes]
rs58685348	0.86[EUR][1000 genomes]
rs59841744	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60396936	0.88[EUR][1000 genomes]
rs60730419	0.96[EUR][1000 genomes]
rs61105084	0.92[EUR][1000 genomes]
rs6722196	0.80[EUR][1000 genomes]
rs6736045	0.88[EUR][1000 genomes]
rs6746133	0.84[EUR][1000 genomes]
rs73013435	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73013436	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73013439	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73013453	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73013465	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73017249	0.96[EUR][1000 genomes]
rs73017262	0.92[EUR][1000 genomes]
rs73017268	0.92[EUR][1000 genomes]
rs73017286	0.86[EUR][1000 genomes]
rs73027220	0.80[EUR][1000 genomes]
rs73029214	0.88[EUR][1000 genomes]
rs73976125	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73976285	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7580756	0.88[EUR][1000 genomes]
rs7591214	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9752051	0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171988200-172014400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:171990000-172016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:171995400-172012200	Weak transcription	Dnd41	blood
4	chr2:171996600-172015400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:171996600-172015400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:171996600-172015600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:171998400-172014800	Weak transcription	Brain Anterior Caudate	brain
8	chr2:171999000-172014800	Weak transcription	Osteobl	bone
9	chr2:171999200-172014000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:171999600-172012200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:171999600-172013800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:172000200-172014600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:172003000-172012200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:172003200-172015400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:172003400-172012200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:172003600-172014600	Weak transcription	HMEC	breast
17	chr2:172003800-172012400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:172003800-172014600	Weak transcription	NH-A	brain
19	chr2:172004000-172012600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:172004200-172015400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:172005200-172012200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:172005200-172012200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:172006000-172014600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:172007600-172014800	Weak transcription	Brain Substantia Nigra	brain
25	chr2:172007800-172013200	Weak transcription	Left Ventricle	heart
26	chr2:172007800-172014200	Enhancers	HepG2	liver
27	chr2:172007800-172014600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:172007800-172015800	Weak transcription	Lung	lung
29	chr2:172008600-172013800	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr2:172008800-172014600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:172009000-172014600	Enhancers	Primary T cells from cord blood	blood
32	chr2:172009800-172012800	Enhancers	A549	lung
33	chr2:172009800-172015200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr2:172010200-172012400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:172010200-172014800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr2:172010600-172012400	Enhancers	Hela-S3	cervix
37	chr2:172010600-172014200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr2:172010800-172012600	Enhancers	Liver	Liver
39	chr2:172010800-172014600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:172010800-172014800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:172011000-172013600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr2:172011000-172014000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:172011000-172014600	Weak transcription	HSMM	muscle
44	chr2:172011200-172012200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:172011200-172012200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:172011200-172012200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:172011200-172012200	Weak transcription	Small Intestine	intestine
48	chr2:172011200-172013000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr2:172011200-172013000	Weak transcription	Thymus	Thymus
50	chr2:172011200-172013200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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