Variant report

Variant	rs73438344
Chromosome Location	chr11:19147846-19147847
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:19138048..19139887-chr11:19145761..19148096,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177054	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1039513	0.85[EUR][1000 genomes]
rs10500839	0.85[EUR][1000 genomes]
rs11025000	0.85[EUR][1000 genomes]
rs11025001	0.85[EUR][1000 genomes]
rs11025009	0.85[EUR][1000 genomes]
rs11025010	0.85[EUR][1000 genomes]
rs11025012	0.85[EUR][1000 genomes]
rs11606142	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223284	0.85[EUR][1000 genomes]
rs16936105	0.83[EUR][1000 genomes]
rs1962511	0.85[EUR][1000 genomes]
rs3893309	0.83[EUR][1000 genomes]
rs4757751	0.83[EUR][1000 genomes]
rs4757753	0.85[EUR][1000 genomes]
rs60514147	0.83[EUR][1000 genomes]
rs7125667	0.83[EUR][1000 genomes]
rs73436471	0.83[EUR][1000 genomes]
rs73438348	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73438350	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73438377	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868337	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040805	chr11:19037871-19892803	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv540957	chr11:19037871-19892803	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73438344	ENSG00000177054	cis	multi-tissue	Pritchard

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19139400-19151400	Weak transcription	Aorta	Aorta
2	chr11:19139400-19156200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:19139400-19156200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:19139600-19148200	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:19139600-19149200	Weak transcription	HSMM	muscle
6	chr11:19139600-19150400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:19139600-19153600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:19139600-19153800	Weak transcription	Ovary	ovary
9	chr11:19139600-19175000	Weak transcription	Pancreas	Pancrea
10	chr11:19139800-19149200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:19139800-19153800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:19139800-19154200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:19139800-19155000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:19139800-19172000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:19140000-19148600	Weak transcription	Brain Anterior Caudate	brain
16	chr11:19140000-19148600	Weak transcription	HepG2	liver
17	chr11:19140000-19149200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:19140000-19153800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:19140000-19164800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:19140000-19167600	Weak transcription	HMEC	breast
21	chr11:19140000-19169600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:19140000-19186400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:19140200-19149800	Weak transcription	Fetal Thymus	thymus
24	chr11:19140200-19175000	Weak transcription	Thymus	Thymus
25	chr11:19140400-19152400	Weak transcription	Fetal Intestine Small	intestine
26	chr11:19140400-19153800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:19140600-19148200	Weak transcription	Primary T cells from cord blood	blood
28	chr11:19140600-19152800	Weak transcription	Fetal Lung	lung
29	chr11:19140600-19153600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr11:19140800-19186800	Weak transcription	Colonic Mucosa	Colon
31	chr11:19141200-19148200	Weak transcription	NH-A	brain
32	chr11:19141200-19148800	Weak transcription	Fetal Brain Female	brain
33	chr11:19141200-19154000	Weak transcription	Esophagus	oesophagus
34	chr11:19141200-19155800	Weak transcription	Fetal Stomach	stomach
35	chr11:19141400-19152000	Weak transcription	Fetal Intestine Large	intestine
36	chr11:19141600-19156200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:19142000-19149600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:19142000-19168400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr11:19142200-19148200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:19142200-19148200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr11:19142200-19150200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr11:19142800-19173200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:19143200-19167800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr11:19143400-19149800	Weak transcription	Fetal Heart	heart
45	chr11:19143400-19153600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:19143400-19153800	Weak transcription	NHEK	skin
47	chr11:19143400-19185800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr11:19143400-19186400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:19143400-19201600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr11:19143600-19148200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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