Variant report

Variant	rs631714
Chromosome Location	chr11:62422935-62422936
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62419108..62423185-chr11:62455731..62458906,3	MCF-7	breast:
2	chr11:62400682..62403654-chr11:62422821..62424454,2	MCF-7	breast:
3	chr11:62420876..62422423-chr11:62422873..62424832,2	MCF-7	breast:
4	chr11:62419322..62423908-chr11:62471994..62474725,4	K562	blood:
5	chr11:62420856..62423273-chr11:62494046..62495574,2	K562	blood:
6	chr11:62367665..62369757-chr11:62421204..62423315,3	MCF-7	breast:
7	chr11:62422408..62424518-chr11:62471615..62474470,2	K562	blood:
8	chr11:62382884..62384970-chr11:62420663..62423261,3	MCF-7	breast:
9	chr11:62387534..62391195-chr11:62419340..62423776,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000089597	Chromatin interaction
ENSG00000149480	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000177363	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12270159	1.00[EUR][1000 genomes]
rs12286444	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17157390	1.00[MEX][hapmap]
rs17157391	1.00[MEX][hapmap]
rs2956992	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs2957121	0.91[AFR][1000 genomes]
rs4343028	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs4387351	1.00[TSI][hapmap]
rs537602	1.00[MEX][hapmap]
rs55979088	0.86[AFR][1000 genomes]
rs567069	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7104235	1.00[MEX][hapmap]
rs7114249	1.00[MEX][hapmap]
rs7129040	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs948683	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS 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 miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
5	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
6	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62420800-62430200	Weak transcription	Gastric	stomach
2	chr11:62420800-62431600	Weak transcription	Small Intestine	intestine
3	chr11:62421000-62428200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:62421200-62428400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:62421200-62429000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:62421200-62429000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:62421200-62429200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:62421200-62429200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:62421200-62429400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:62421200-62429600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:62421200-62429600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:62421200-62429600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:62421200-62429600	Weak transcription	Left Ventricle	heart
14	chr11:62421200-62429600	Weak transcription	Lung	lung
15	chr11:62421200-62429600	Weak transcription	NHLF	lung
16	chr11:62421200-62429800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:62421200-62429800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:62421200-62429800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:62421200-62429800	Weak transcription	HMEC	breast
20	chr11:62421200-62430000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:62421200-62430000	Weak transcription	Spleen	Spleen
22	chr11:62421200-62430000	Weak transcription	HSMMtube	muscle
23	chr11:62421200-62430200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:62421200-62430200	Weak transcription	HSMM	muscle
25	chr11:62421200-62430600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:62421200-62430600	Weak transcription	Fetal Brain Male	brain
27	chr11:62421200-62431600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:62421200-62431600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:62421200-62431600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:62421200-62431600	Weak transcription	NHDF-Ad	bronchial
31	chr11:62421200-62432000	Weak transcription	Aorta	Aorta
32	chr11:62421200-62432000	Weak transcription	Brain Substantia Nigra	brain
33	chr11:62421200-62432000	Weak transcription	Esophagus	oesophagus
34	chr11:62421200-62432000	Weak transcription	Ovary	ovary
35	chr11:62421200-62432000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:62421400-62423800	Weak transcription	Fetal Lung	lung
37	chr11:62421400-62424200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:62421400-62424400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:62421400-62424600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:62421400-62427800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:62421400-62427800	Weak transcription	Fetal Intestine Large	intestine
42	chr11:62421400-62428200	Weak transcription	Fetal Intestine Small	intestine
43	chr11:62421400-62428400	Weak transcription	Fetal Stomach	stomach
44	chr11:62421400-62428800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:62421400-62429000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:62421400-62429000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:62421400-62429000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:62421400-62429000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr11:62421400-62429000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:62421400-62429000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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