Variant report

Variant	rs56372998
Chromosome Location	chr11:46306826-46306827
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46298042..46299697-chr11:46306537..46308541,2	MCF-7	breast:
2	chr11:46260084..46261825-chr11:46306467..46308194,2	K562	blood:
3	chr11:46297797..46300259-chr11:46304779..46307243,2	MCF-7	breast:
4	chr11:46293083..46308698-chr11:46310742..46320666,35	K562	blood:
5	chr11:46301943..46305036-chr11:46305581..46308212,3	K562	blood:

Variant related genes	Relation type
ENSG00000157613	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55652831	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55798544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60602051	0.83[ASN][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	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46301400-46311400	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:46301600-46307200	Weak transcription	Right Atrium	heart
3	chr11:46303000-46311800	Weak transcription	Hela-S3	cervix
4	chr11:46303400-46307000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:46303400-46307400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:46303400-46310000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:46303600-46307000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:46303600-46307000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr11:46303600-46311000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:46303600-46311400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:46303600-46311600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:46303600-46311600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:46303600-46311800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:46303800-46307000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:46303800-46307400	Weak transcription	Fetal Kidney	kidney
16	chr11:46303800-46311600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:46303800-46311800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:46304000-46311200	Weak transcription	Fetal Thymus	thymus
19	chr11:46304200-46307200	Weak transcription	GM12878-XiMat	blood
20	chr11:46304200-46307400	Weak transcription	Colonic Mucosa	Colon
21	chr11:46304200-46311000	Weak transcription	K562	blood
22	chr11:46304400-46311800	Weak transcription	Spleen	Spleen
23	chr11:46305200-46307800	Enhancers	Stomach Mucosa	stomach
24	chr11:46305400-46307800	Genic enhancers	Rectal Mucosa Donor 31	rectum
25	chr11:46305600-46307400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:46306200-46307000	Genic enhancers	Osteobl	bone
27	chr11:46306200-46307600	Enhancers	NH-A	brain
28	chr11:46306200-46308000	Genic enhancers	Fetal Stomach	stomach
29	chr11:46306400-46307000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:46306400-46307000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:46306400-46307400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr11:46306400-46307400	Genic enhancers	Rectal Mucosa Donor 29	rectum
33	chr11:46306400-46307600	Genic enhancers	Duodenum Mucosa	Duodenum
34	chr11:46306400-46307600	Enhancers	Right Ventricle	heart
35	chr11:46306400-46307800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:46306400-46307800	Genic enhancers	Fetal Intestine Large	intestine
37	chr11:46306400-46307800	Enhancers	Pancreas	Pancrea
38	chr11:46306400-46308000	Enhancers	Left Ventricle	heart
39	chr11:46306400-46308800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:46306400-46309000	Genic enhancers	Fetal Intestine Small	intestine
41	chr11:46306600-46307000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr11:46306600-46307000	Enhancers	Fetal Lung	lung
43	chr11:46306600-46307000	Bivalent Enhancer	HepG2	liver
44	chr11:46306600-46307200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:46306600-46307200	Enhancers	Adipose Nuclei	Adipose
46	chr11:46306600-46307200	Enhancers	Placenta	Placenta
47	chr11:46306600-46307200	Enhancers	Small Intestine	intestine
48	chr11:46306600-46307400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr11:46306600-46307400	Genic enhancers	Fetal Muscle Leg	muscle
50	chr11:46306600-46307600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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