Variant report

Variant	rs2230274
Chromosome Location	chr11:94278713-94278714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:94277458..94279077-chr11:94299379..94301250,3	K562	blood:
2	chr11:94226771..94229140-chr11:94275887..94279295,4	K562	blood:

Variant related genes	Relation type
ENSG00000134627	Chromatin interaction
ENSG00000020922	Chromatin interaction
ENSG00000168876	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1105465	0.84[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[ASN][1000 genomes]
rs12295797	1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16912568	1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[ASN][1000 genomes]
rs16920630	1.00[ASW][hapmap]
rs16920648	1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[ASN][1000 genomes]
rs2186623	0.84[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[ASN][1000 genomes]
rs4256938	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4753608	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs60712417	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60780460	0.92[ASN][1000 genomes]
rs61065511	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs624184	0.90[JPT][hapmap];0.92[MEX][hapmap]
rs692863	0.90[JPT][hapmap]
rs7102055	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.89[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	esv3390466	chr11:94276729-94279277	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94276400-94279200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:94276400-94279200	Active TSS	Brain Substantia Nigra	brain
3	chr11:94276400-94279600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:94276400-94280000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr11:94276600-94279200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:94276600-94279200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:94276600-94279400	Active TSS	Hela-S3	cervix
8	chr11:94276600-94279600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr11:94276600-94279600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:94276600-94281000	Active TSS	Aorta	Aorta
11	chr11:94276800-94279000	Active TSS	Colon Smooth Muscle	Colon
12	chr11:94276800-94279200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:94276800-94279200	Active TSS	Brain Hippocampus Middle	brain
14	chr11:94276800-94279200	Active TSS	NHDF-Ad	bronchial
15	chr11:94276800-94279400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:94276800-94279400	Active TSS	Small Intestine	intestine
17	chr11:94276800-94279600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr11:94276800-94279600	Active TSS	HSMM	muscle
19	chr11:94276800-94279800	Active TSS	Brain Cingulate Gyrus	brain
20	chr11:94276800-94280000	Active TSS	Fetal Kidney	kidney
21	chr11:94276800-94280200	Active TSS	Gastric	stomach
22	chr11:94276800-94280200	Active TSS	Rectal Smooth Muscle	rectum
23	chr11:94276800-94282600	Active TSS	Fetal Intestine Large	intestine
24	chr11:94277000-94278800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr11:94277000-94278800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:94277000-94278800	Active TSS	Primary T cells from cord blood	blood
27	chr11:94277000-94278800	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr11:94277000-94278800	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr11:94277000-94278800	Active TSS	Osteobl	bone
30	chr11:94277000-94279200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr11:94277000-94279200	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr11:94277000-94280000	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr11:94277000-94281000	Active TSS	Stomach Mucosa	stomach
34	chr11:94277000-94283400	Active TSS	GM12878-XiMat	blood
35	chr11:94277200-94278800	Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr11:94277400-94279200	Active TSS	Placenta Amnion	Placenta Amnion
37	chr11:94277600-94279000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:94277600-94280000	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr11:94277800-94279000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr11:94277800-94279000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:94277800-94279200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr11:94277800-94279200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:94277800-94279400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr11:94277800-94279400	Flanking Active TSS	Placenta	Placenta
45	chr11:94278000-94278800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
46	chr11:94278000-94278800	Flanking Active TSS	Colonic Mucosa	Colon
47	chr11:94278000-94278800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr11:94278000-94278800	Flanking Active TSS	Spleen	Spleen
49	chr11:94278000-94279000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:94278000-94279000	Flanking Active TSS	Esophagus	oesophagus

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