Variant report

Variant	rs7940683
Chromosome Location	chr11:72553080-72553081
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72551242..72553547-chr11:72569977..72572591,2	MCF-7	breast:
2	chr11:72551043..72553984-chr11:72939996..72942753,2	MCF-7	breast:
3	chr11:72550927..72553163-chr11:72557469..72559694,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55669705	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55742663	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55949049	1.00[AMR][1000 genomes]
rs56192870	1.00[AMR][1000 genomes]
rs56351600	1.00[AMR][1000 genomes]
rs7115561	1.00[MEX][hapmap]
rs7933734	1.00[MEX][hapmap]
rs7939736	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]

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	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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72540200-72616600	Strong transcription	Primary B cells from peripheral blood	blood
2	chr11:72540600-72589800	Strong transcription	Primary B cells from cord blood	blood
3	chr11:72540800-72554000	Weak transcription	Colonic Mucosa	Colon
4	chr11:72541600-72558400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:72543000-72556400	Weak transcription	K562	blood
6	chr11:72543200-72555600	Strong transcription	Fetal Thymus	thymus
7	chr11:72543200-72556800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:72543200-72558200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:72543200-72562200	Weak transcription	A549	lung
10	chr11:72543200-72614800	Weak transcription	Psoas Muscle	Psoas
11	chr11:72543400-72560800	Strong transcription	GM12878-XiMat	blood
12	chr11:72543400-72603000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:72543600-72555400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:72545200-72561000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:72545600-72554000	Strong transcription	Fetal Intestine Small	intestine
16	chr11:72546000-72554400	Strong transcription	Brain Germinal Matrix	brain
17	chr11:72546000-72555600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:72546000-72555800	Strong transcription	Thymus	Thymus
19	chr11:72546000-72557000	Strong transcription	Primary T cells from cord blood	blood
20	chr11:72546000-72557200	Strong transcription	HepG2	liver
21	chr11:72546000-72557600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:72546000-72558000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:72546000-72558600	Strong transcription	Liver	Liver
24	chr11:72546200-72553600	Strong transcription	Fetal Intestine Large	intestine
25	chr11:72546400-72555600	Strong transcription	Dnd41	blood
26	chr11:72546400-72557800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:72546600-72553600	Weak transcription	Small Intestine	intestine
28	chr11:72546600-72561000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:72546800-72559200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:72546800-72561400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:72547200-72555600	Strong transcription	Primary hematopoietic stem cells	blood
32	chr11:72547400-72555600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr11:72547400-72561200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr11:72547600-72554800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr11:72547600-72555000	Weak transcription	Right Atrium	heart
36	chr11:72547600-72555600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:72547600-72555600	Genic enhancers	Osteobl	bone
38	chr11:72548000-72559600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr11:72548200-72554800	Strong transcription	Spleen	Spleen
40	chr11:72548200-72554800	Strong transcription	HSMM	muscle
41	chr11:72548200-72556000	Strong transcription	Stomach Smooth Muscle	stomach
42	chr11:72548400-72553200	Strong transcription	HSMMtube	muscle
43	chr11:72548400-72554400	Strong transcription	Fetal Stomach	stomach
44	chr11:72548400-72561000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr11:72548400-72561000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:72548600-72553400	Strong transcription	HUVEC	blood vessel
47	chr11:72548600-72554000	Strong transcription	Fetal Lung	lung
48	chr11:72548600-72554400	Strong transcription	Brain Cingulate Gyrus	brain
49	chr11:72548600-72554400	Strong transcription	Rectal Smooth Muscle	rectum
50	chr11:72548600-72554600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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