Variant report

Variant	rs4944805
Chromosome Location	chr11:72522262-72522263
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72490395..72495168-chr11:72521187..72527739,13	MCF-7	breast:
2	chr11:72507503..72509715-chr11:72521788..72523914,2	MCF-7	breast:
3	chr11:72460411..72465058-chr11:72522153..72526935,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265064	Chromatin interaction
ENSG00000214530	Chromatin interaction
ENSG00000186635	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1000620	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10431171	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10431172	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10431174	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10751213	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10751215	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10751216	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10898877	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898879	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898880	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11235592	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11235594	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11235596	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1864653	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1975109	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35343925	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35668754	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35752694	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4459331	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4459332	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs485099	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944796	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944797	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944800	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944802	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592486	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6592489	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6592490	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs677231	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7110719	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7952617	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv825992	chr11:72476174-72524295	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72505600-72523600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr11:72505800-72523000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:72505800-72523600	Weak transcription	Stomach Mucosa	stomach
4	chr11:72506000-72522800	Weak transcription	Pancreas	Pancrea
5	chr11:72506000-72523200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:72506000-72523600	Weak transcription	Brain Angular Gyrus	brain
7	chr11:72506000-72523800	Weak transcription	Spleen	Spleen
8	chr11:72506200-72523800	Weak transcription	Brain Anterior Caudate	brain
9	chr11:72509800-72523800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:72509800-72523800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:72510000-72523600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:72510000-72523600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:72510000-72523800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:72510000-72523800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:72510200-72523800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:72510400-72523800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:72513000-72523600	Weak transcription	Thymus	Thymus
18	chr11:72513800-72523800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:72515000-72523200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:72515000-72523600	Weak transcription	Right Ventricle	heart
21	chr11:72515600-72523000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:72515800-72523200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:72516200-72522800	Weak transcription	Left Ventricle	heart
24	chr11:72516400-72523600	Weak transcription	Esophagus	oesophagus
25	chr11:72516600-72522600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:72516800-72523000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:72516800-72523200	Weak transcription	Fetal Thymus	thymus
28	chr11:72517200-72523600	Weak transcription	Right Atrium	heart
29	chr11:72517200-72523800	Weak transcription	Aorta	Aorta
30	chr11:72517400-72523200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr11:72517800-72523200	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:72517800-72523600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:72517800-72523600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:72518000-72523600	Weak transcription	Fetal Lung	lung
35	chr11:72518200-72523000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr11:72518200-72523600	Weak transcription	Colonic Mucosa	Colon
37	chr11:72518400-72522600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr11:72518400-72523600	Weak transcription	NHLF	lung
39	chr11:72518600-72523800	Weak transcription	Ovary	ovary
40	chr11:72518800-72522800	Weak transcription	Lung	lung
41	chr11:72518800-72522800	Weak transcription	HSMM	muscle
42	chr11:72519000-72523000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr11:72519000-72523600	Weak transcription	K562	blood
44	chr11:72519200-72523200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:72519200-72523200	Weak transcription	HUVEC	blood vessel
46	chr11:72519400-72523600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr11:72519400-72523600	Weak transcription	Liver	Liver
48	chr11:72519400-72523600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:72519400-72523800	Weak transcription	Fetal Brain Female	brain
50	chr11:72519600-72523000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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