Variant report

Variant	rs11895768
Chromosome Location	chr2:11880289-11880290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11872902..11874772-chr2:11878776..11881694,2	K562	blood:
2	chr2:11879500..11881190-chr2:11886379..11888798,2	MCF-7	breast:
3	chr2:11872902..11875689-chr2:11878776..11880592,2	K562	blood:
4	chr2:11850515..11852161-chr2:11877592..11880491,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134324	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10174816	1.00[CEU][hapmap]
rs10183250	1.00[EUR][1000 genomes]
rs11884138	1.00[AMR][1000 genomes]
rs11886664	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11890221	1.00[EUR][1000 genomes]
rs13420559	1.00[EUR][1000 genomes]
rs13421766	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13424731	1.00[EUR][1000 genomes]
rs13431704	1.00[CEU][hapmap]
rs13432243	1.00[CEU][hapmap]
rs16857649	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16857699	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4387757	1.00[CEU][hapmap]
rs55736020	1.00[EUR][1000 genomes]
rs56352405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56820808	1.00[EUR][1000 genomes]
rs56834951	1.00[EUR][1000 genomes]
rs57779431	1.00[EUR][1000 genomes]
rs58686966	1.00[EUR][1000 genomes]
rs59101452	1.00[EUR][1000 genomes]
rs59157966	1.00[EUR][1000 genomes]
rs59416046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59836200	1.00[EUR][1000 genomes]
rs61382095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6432217	1.00[CEU][hapmap]
rs6432218	1.00[CEU][hapmap]
rs6740248	1.00[CEU][hapmap]
rs6744817	1.00[CEU][hapmap]
rs6745921	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6755991	1.00[AMR][1000 genomes]
rs6757729	1.00[CEU][hapmap]
rs73185109	1.00[EUR][1000 genomes]
rs73917104	1.00[EUR][1000 genomes]
rs73917107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73917124	1.00[EUR][1000 genomes]
rs73917127	1.00[EUR][1000 genomes]
rs7562399	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7585718	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7602962	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv580973	chr2:11864946-11898931	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv580974	chr2:11867841-11898931	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11875200-11883000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:11877000-11882800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:11877000-11883400	Weak transcription	Right Atrium	heart
4	chr2:11878600-11880400	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr2:11878800-11882800	Weak transcription	Fetal Thymus	thymus
6	chr2:11879000-11883400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr2:11879000-11883400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:11879000-11883600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:11879000-11883600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:11879000-11883800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:11879200-11881000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:11879200-11882400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:11879200-11883000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:11879200-11883000	Weak transcription	Psoas Muscle	Psoas
15	chr2:11879200-11883200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:11879200-11883400	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:11879200-11883400	Weak transcription	Stomach Mucosa	stomach
18	chr2:11879200-11883600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:11879200-11883600	Weak transcription	Ovary	ovary
20	chr2:11879200-11883800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:11879200-11883800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:11879200-11883800	Weak transcription	Fetal Lung	lung
23	chr2:11879200-11883800	Weak transcription	Right Ventricle	heart
24	chr2:11879200-11884000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:11879200-11884400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:11879400-11881600	Enhancers	K562	blood
27	chr2:11879400-11882200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:11879400-11882200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:11879400-11882200	Weak transcription	HMEC	breast
30	chr2:11879400-11882400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:11879400-11882400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:11879400-11882800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr2:11879400-11882800	Weak transcription	Pancreas	Pancrea
34	chr2:11879400-11883200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:11879400-11883400	Weak transcription	Esophagus	oesophagus
36	chr2:11879400-11883600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:11879400-11883800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:11879400-11883800	Weak transcription	Brain Anterior Caudate	brain
39	chr2:11879400-11883800	Weak transcription	Left Ventricle	heart
40	chr2:11879400-11884000	Weak transcription	Adipose Nuclei	Adipose
41	chr2:11879600-11882000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:11879600-11882200	Weak transcription	NHEK	skin
43	chr2:11879600-11882400	Weak transcription	Liver	Liver
44	chr2:11879600-11882400	Weak transcription	HUVEC	blood vessel
45	chr2:11879600-11882600	Weak transcription	A549	lung
46	chr2:11879600-11882600	Weak transcription	NH-A	brain
47	chr2:11879600-11882800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:11879600-11882800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:11879600-11883000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:11879600-11883200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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