Variant report

Variant	rs7130235
Chromosome Location	chr11:63456478-63456479
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63447421..63450093-chr11:63455552..63458070,3	MCF-7	breast:
2	chr11:63436300..63439514-chr11:63456446..63459653,3	K562	blood:
3	chr11:63456078..63458462-chr11:63468161..63469753,2	K562	blood:
4	chr11:63455435..63460704-chr11:63461095..63464414,6	K562	blood:

Variant related genes	Relation type
ENSG00000133318	Chromatin interaction
ENSG00000184743	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12278519	0.83[AMR][1000 genomes]
rs2957253	0.85[AMR][1000 genomes]
rs34577629	0.88[LWK][hapmap];0.85[AMR][1000 genomes]
rs493672	0.85[AMR][1000 genomes]
rs7123713	1.00[AMR][1000 genomes]
rs7123961	1.00[AMR][1000 genomes]
rs7129721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7131365	1.00[AMR][1000 genomes]
rs9734158	0.85[AMR][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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897628	chr11:63456478-63508334	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63450400-63466400	Weak transcription	Small Intestine	intestine
2	chr11:63450600-63469200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:63450800-63460400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:63450800-63465400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:63450800-63465800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:63450800-63517400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:63451000-63466800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:63451000-63466800	Weak transcription	Stomach Mucosa	stomach
9	chr11:63451000-63467000	Weak transcription	Thymus	Thymus
10	chr11:63451200-63466400	Weak transcription	Fetal Intestine Large	intestine
11	chr11:63451200-63466800	Weak transcription	Fetal Kidney	kidney
12	chr11:63451200-63475000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:63451200-63478000	Weak transcription	HSMM	muscle
14	chr11:63451200-63486400	Weak transcription	Primary T cells from cord blood	blood
15	chr11:63451400-63457000	Weak transcription	HUVEC	blood vessel
16	chr11:63451400-63466800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:63451400-63478000	Weak transcription	HSMMtube	muscle
18	chr11:63452000-63486400	Weak transcription	Fetal Thymus	thymus
19	chr11:63452200-63456600	Weak transcription	HepG2	liver
20	chr11:63452400-63458000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr11:63452600-63469000	Weak transcription	Left Ventricle	heart
22	chr11:63452800-63456800	Enhancers	K562	blood
23	chr11:63452800-63459400	Weak transcription	Fetal Stomach	stomach
24	chr11:63452800-63465400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:63452800-63466800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:63452800-63466800	Weak transcription	Lung	lung
27	chr11:63452800-63469000	Weak transcription	Fetal Intestine Small	intestine
28	chr11:63453000-63459200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:63453000-63472800	Weak transcription	Pancreas	Pancrea
30	chr11:63453200-63456600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:63453200-63457800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:63453200-63466800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:63453400-63467000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:63453400-63471800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:63453600-63456600	Weak transcription	A549	lung
36	chr11:63453600-63467000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:63453600-63467200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:63454200-63456600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:63454200-63457000	Enhancers	Brain Cingulate Gyrus	brain
40	chr11:63454200-63457000	Enhancers	Brain Hippocampus Middle	brain
41	chr11:63454200-63457800	Enhancers	Fetal Heart	heart
42	chr11:63454200-63458400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr11:63454200-63459200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:63454400-63456600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:63454400-63457400	Enhancers	NHEK	skin
46	chr11:63454400-63464000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:63454400-63465200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:63454400-63466400	Weak transcription	Psoas Muscle	Psoas
49	chr11:63454400-63466400	Weak transcription	Right Atrium	heart
50	chr11:63454600-63457000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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