Variant report

Variant	rs7127574
Chromosome Location	chr11:8807548-8807549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12574952	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs16905816	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2116513	1.00[MEX][hapmap]
rs2163627	1.00[MEX][hapmap]
rs2292047	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs2455604	1.00[MEX][hapmap]
rs3850931	0.91[MKK][hapmap]
rs4300398	1.00[JPT][hapmap]
rs4403807	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs58974631	0.98[ASN][1000 genomes]
rs60501641	0.84[ASN][1000 genomes]
rs6484423	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv553447	chr11:8792622-8825966	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8788800-8808400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:8789400-8807600	Weak transcription	Fetal Kidney	kidney
3	chr11:8791400-8810400	Weak transcription	Hela-S3	cervix
4	chr11:8795000-8809800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:8796200-8808000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:8797400-8808200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:8797800-8827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:8798200-8808200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:8798200-8808400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:8798200-8810000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:8799800-8808200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:8800400-8808200	Weak transcription	Fetal Brain Male	brain
13	chr11:8800600-8808200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:8800600-8811400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:8800800-8808600	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:8800800-8822400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:8800800-8825800	Weak transcription	Brain Angular Gyrus	brain
18	chr11:8800800-8827400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:8801000-8808000	Weak transcription	Psoas Muscle	Psoas
20	chr11:8801000-8808400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:8801000-8808400	Weak transcription	HepG2	liver
22	chr11:8801000-8815600	Weak transcription	NHDF-Ad	bronchial
23	chr11:8801200-8808400	Weak transcription	HMEC	breast
24	chr11:8801400-8808200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:8801600-8808200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr11:8801600-8808200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:8801600-8820000	Weak transcription	HSMMtube	muscle
28	chr11:8801600-8827400	Weak transcription	Esophagus	oesophagus
29	chr11:8801800-8808400	Weak transcription	Brain Anterior Caudate	brain
30	chr11:8801800-8808600	Weak transcription	NHEK	skin
31	chr11:8801800-8808800	Weak transcription	Placenta	Placenta
32	chr11:8801800-8814200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:8802000-8816000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:8802200-8808400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:8802200-8808600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:8802200-8819200	Weak transcription	NH-A	brain
37	chr11:8802400-8808200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:8802400-8810600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr11:8802800-8816000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:8803000-8808000	Weak transcription	Ovary	ovary
41	chr11:8803000-8815800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:8803000-8820600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:8804400-8811000	Enhancers	Colon Smooth Muscle	Colon
44	chr11:8805200-8808600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:8805400-8808200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:8805800-8807800	Enhancers	Rectal Smooth Muscle	rectum
47	chr11:8805800-8808600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:8805800-8811400	Weak transcription	Aorta	Aorta
49	chr11:8806000-8810800	Enhancers	Right Ventricle	heart
50	chr11:8806400-8807600	Enhancers	Cortex derived primary cultured neurospheres	brain

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