Variant report

Variant	rs11680446
Chromosome Location	chr2:113387773-113387774
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113386067..113388065-chr2:113482724..113484459,2	MCF-7	breast:
2	chr2:113347066..113349613-chr2:113387380..113389746,2	K562	blood:
3	chr2:113385104..113391547-chr2:113463938..113470179,6	K562	blood:

Variant related genes	Relation type
ENSG00000144130	Chromatin interaction
ENSG00000228251	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1053652	0.89[CHB][hapmap]
rs10758	0.88[CHB][hapmap]
rs11676691	0.81[ASN][1000 genomes]
rs11677284	0.98[ASN][1000 genomes]
rs11678996	0.98[ASN][1000 genomes]
rs12476928	0.89[ASN][1000 genomes]
rs12479380	0.89[CHB][hapmap]
rs13023016	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13387435	0.89[CHB][hapmap]
rs3849316	0.87[EUR][1000 genomes]
rs3849317	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs3980075	0.85[EUR][1000 genomes]
rs4368335	0.94[CHB][hapmap]
rs4849084	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4849086	0.94[CHB][hapmap]
rs4849091	0.82[CHB][hapmap]
rs62158654	0.87[ASN][1000 genomes]
rs6542065	0.89[EUR][1000 genomes]
rs6542066	0.88[EUR][1000 genomes]
rs6542067	0.89[EUR][1000 genomes]
rs6542068	0.90[EUR][1000 genomes]
rs6542074	0.88[CHB][hapmap]
rs6705487	0.88[CHB][hapmap]
rs6724434	0.89[ASN][1000 genomes]
rs6740202	0.88[EUR][1000 genomes]
rs6757781	0.93[CEU][hapmap]
rs7559385	0.90[EUR][1000 genomes]
rs908545	1.00[CHB][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv470480	chr2:113373950-113429752	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113372400-113388600	Weak transcription	Gastric	stomach
2	chr2:113372800-113388000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:113380800-113388400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:113381400-113388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:113381600-113388200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:113381600-113389600	Enhancers	Placenta	Placenta
7	chr2:113384200-113392400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:113384600-113387800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:113384600-113387800	Weak transcription	Liver	Liver
10	chr2:113384600-113388000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr2:113384600-113388000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:113384600-113388000	Weak transcription	Left Ventricle	heart
13	chr2:113384600-113388600	Weak transcription	Right Ventricle	heart
14	chr2:113384600-113389800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:113384600-113390000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:113384800-113387800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:113384800-113388200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:113384800-113388600	Weak transcription	Brain Angular Gyrus	brain
19	chr2:113384800-113388600	Weak transcription	Lung	lung
20	chr2:113384800-113389000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:113384800-113389200	Weak transcription	Fetal Brain Female	brain
22	chr2:113385000-113387800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr2:113385000-113387800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:113385000-113387800	Enhancers	HMEC	breast
25	chr2:113385000-113387800	Enhancers	HUVEC	blood vessel
26	chr2:113385000-113388000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:113385000-113388000	Weak transcription	Aorta	Aorta
28	chr2:113385000-113388400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:113385000-113389600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:113385000-113389800	Enhancers	NHDF-Ad	bronchial
31	chr2:113385000-113396000	Weak transcription	Colonic Mucosa	Colon
32	chr2:113385000-113402600	Weak transcription	Esophagus	oesophagus
33	chr2:113385200-113388000	Weak transcription	Spleen	Spleen
34	chr2:113385200-113388000	Enhancers	A549	lung
35	chr2:113385200-113388200	Enhancers	Osteobl	bone
36	chr2:113385200-113388600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:113385200-113388600	Enhancers	NH-A	brain
38	chr2:113385200-113390600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:113385400-113387800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:113385400-113388000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:113385400-113388400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr2:113385400-113389400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:113385600-113388400	Enhancers	HSMM	muscle
44	chr2:113385600-113388600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:113385800-113387800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:113385800-113387800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:113385800-113388000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:113385800-113388000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:113385800-113388000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:113385800-113388200	Enhancers	Primary neutrophils fromperipheralblood	blood

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