Variant report

Variant	rs12792556
Chromosome Location	chr11:100635844-100635845
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100557937..100559587-chr11:100634820..100637325,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248027	Chromatin interaction
ENSG00000165895	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs34225168	1.00[AFR][1000 genomes]
rs34636774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36045870	1.00[AFR][1000 genomes]
rs71476638	1.00[AFR][1000 genomes]
rs71476649	1.00[AFR][1000 genomes];0.97[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	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100621000-100642400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:100624600-100655600	Weak transcription	Left Ventricle	heart
3	chr11:100624600-100655600	Weak transcription	Right Ventricle	heart
4	chr11:100625000-100637600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:100626000-100639600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:100628200-100642800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:100629200-100642800	Weak transcription	Liver	Liver
8	chr11:100631000-100637800	Weak transcription	Placenta	Placenta
9	chr11:100631000-100639000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:100631000-100639600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:100631800-100638600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:100631800-100645000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:100632000-100636000	Weak transcription	Stomach Mucosa	stomach
14	chr11:100632000-100639200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:100632000-100640000	Weak transcription	Fetal Heart	heart
16	chr11:100632200-100640000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:100632200-100645200	Weak transcription	Colonic Mucosa	Colon
18	chr11:100632200-100647200	Weak transcription	HSMM	muscle
19	chr11:100632800-100639600	Weak transcription	Fetal Lung	lung
20	chr11:100632800-100645000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:100632800-100645000	Weak transcription	Gastric	stomach
22	chr11:100633000-100641600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:100633000-100647000	Weak transcription	NHLF	lung
24	chr11:100633200-100639000	Weak transcription	Small Intestine	intestine
25	chr11:100633200-100639800	Weak transcription	Adipose Nuclei	Adipose
26	chr11:100633200-100641800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:100633200-100641800	Weak transcription	Fetal Muscle Leg	muscle
28	chr11:100633200-100642600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:100633200-100655600	Weak transcription	Psoas Muscle	Psoas
30	chr11:100633600-100647400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr11:100635000-100636000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr11:100635000-100636000	Enhancers	Duodenum Mucosa	Duodenum
33	chr11:100635200-100639600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:100635200-100647400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:100635400-100637000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:100635400-100637000	Enhancers	Fetal Intestine Small	intestine
37	chr11:100635400-100649400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:100635600-100639600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:100635800-100636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:100635800-100639000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:100635800-100639600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:100635800-100645600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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