Variant report

Variant	rs2712814
Chromosome Location	chr11:74877864-74877865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74867339..74870278-chr11:74875624..74878251,3	K562	blood:
2	chr11:74866771..74870278-chr11:74874697..74878251,4	K562	blood:

Variant related genes	Relation type
ENSG00000137491	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10899075	0.84[ASN][1000 genomes]
rs1676878	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2018251	0.83[AFR][1000 genomes]
rs2156656	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2465290	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2712793	0.83[AFR][1000 genomes]
rs2712801	0.82[ASN][1000 genomes]
rs2712802	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2712806	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2712808	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2712809	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2712811	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2712815	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2712816	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2712817	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2851065	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2851067	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2851068	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2851069	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2851070	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2851071	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2851072	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2851075	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2851097	0.83[AFR][1000 genomes]
rs2851103	0.84[ASN][1000 genomes]
rs2851104	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2851105	0.81[ASN][1000 genomes]
rs2851109	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851112	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv1054122	chr11:74872792-74895241	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74863600-74885600	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:74864200-74898400	Weak transcription	Esophagus	oesophagus
3	chr11:74870000-74881000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:74870800-74901600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:74871400-74886800	Weak transcription	Brain Substantia Nigra	brain
6	chr11:74872200-74885400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:74872400-74883600	Genic enhancers	Fetal Intestine Small	intestine
8	chr11:74872800-74878200	Enhancers	Fetal Muscle Trunk	muscle
9	chr11:74872800-74878800	Genic enhancers	Fetal Intestine Large	intestine
10	chr11:74873400-74879400	Weak transcription	Adipose Nuclei	Adipose
11	chr11:74874000-74878000	Weak transcription	Gastric	stomach
12	chr11:74874000-74885800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:74875400-74878200	Weak transcription	Stomach Mucosa	stomach
14	chr11:74875400-74885800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:74875600-74885400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:74875800-74878400	Genic enhancers	Duodenum Mucosa	Duodenum
17	chr11:74875800-74885600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:74876000-74878000	Weak transcription	Left Ventricle	heart
19	chr11:74876000-74885800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:74876200-74878000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:74876200-74878000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:74876200-74878800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:74876200-74879200	Enhancers	HepG2	liver
24	chr11:74876200-74879800	Weak transcription	Right Ventricle	heart
25	chr11:74876200-74880000	Weak transcription	Small Intestine	intestine
26	chr11:74876200-74880200	Weak transcription	Pancreas	Pancrea
27	chr11:74876200-74884200	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:74876200-74886000	Weak transcription	Fetal Thymus	thymus
29	chr11:74876200-74906200	Weak transcription	Spleen	Spleen
30	chr11:74876400-74882400	Genic enhancers	Liver	Liver
31	chr11:74876800-74878800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:74876800-74879800	Weak transcription	Placenta	Placenta
33	chr11:74877200-74879200	Weak transcription	Fetal Muscle Leg	muscle
34	chr11:74877600-74883800	Strong transcription	Lung	lung
35	chr11:74877800-74878200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:74877800-74878200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:74877800-74878800	Enhancers	Colonic Mucosa	Colon
38	chr11:74877800-74880200	Enhancers	Rectal Mucosa Donor 31	rectum

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