Variant report

Variant	rs11675109
Chromosome Location	chr2:37208479-37208480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37200625..37203059-chr2:37207408..37209806,2	MCF-7	breast:
2	chr2:37195981..37197530-chr2:37208433..37209942,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1008838	0.86[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10182741	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10189328	1.00[CHB][hapmap]
rs10201963	1.00[CHB][hapmap]
rs10208258	0.93[ASN][1000 genomes]
rs10490659	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs10495868	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10865120	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11124549	0.88[EUR][1000 genomes]
rs11124552	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs11124557	0.83[EUR][1000 genomes]
rs11674211	1.00[CHB][hapmap]
rs11676225	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs11678303	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs11682966	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs11686605	0.88[EUR][1000 genomes]
rs11690477	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11691236	0.88[EUR][1000 genomes]
rs11904023	1.00[CHB][hapmap]
rs12479195	1.00[CHB][hapmap]
rs12612838	0.87[ASN][1000 genomes]
rs12624290	1.00[CHB][hapmap];0.87[TSI][hapmap]
rs13025262	1.00[JPT][hapmap]
rs13401327	1.00[CHB][hapmap]
rs13413438	1.00[CHB][hapmap]
rs13432823	1.00[JPT][hapmap]
rs17020005	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs17020024	0.83[EUR][1000 genomes]
rs17020069	1.00[CHB][hapmap]
rs17020072	1.00[CHB][hapmap]
rs17020074	1.00[CHB][hapmap]
rs17020084	1.00[CHB][hapmap]
rs1861433	1.00[CHB][hapmap]
rs1861436	1.00[CHB][hapmap]
rs2216106	1.00[CHB][hapmap]
rs2287087	0.83[EUR][1000 genomes]
rs2540919	0.86[CHB][hapmap]
rs2540939	0.83[EUR][1000 genomes]
rs2541000	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2541002	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2691104	1.00[CHB][hapmap]
rs2691109	1.00[CHB][hapmap]
rs2691110	1.00[CHB][hapmap]
rs2691114	1.00[CHB][hapmap]
rs2691115	1.00[CHB][hapmap]
rs2691116	1.00[CHB][hapmap]
rs2691118	1.00[CHB][hapmap]
rs2706805	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2706811	0.92[ASN][1000 genomes]
rs2706813	0.87[ASN][1000 genomes]
rs2717494	1.00[CHB][hapmap]
rs2717501	1.00[CHB][hapmap]
rs2717505	1.00[CHB][hapmap]
rs2717509	1.00[CHB][hapmap]
rs2717510	1.00[CHB][hapmap]
rs2717511	1.00[CHB][hapmap];0.87[TSI][hapmap]
rs2717512	1.00[CHB][hapmap]
rs2717518	1.00[CHB][hapmap]
rs2717522	1.00[CHB][hapmap]
rs28718824	1.00[CHB][hapmap];0.82[GIH][hapmap]
rs35326596	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35637717	0.85[AMR][1000 genomes]
rs3770775	1.00[CHB][hapmap]
rs3845779	1.00[CHB][hapmap]
rs41486347	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs4635515	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4670651	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs55993128	0.83[EUR][1000 genomes]
rs56186144	0.83[EUR][1000 genomes]
rs57671539	0.83[EUR][1000 genomes]
rs57884362	0.83[EUR][1000 genomes]
rs58970461	0.83[EUR][1000 genomes]
rs59420011	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59854977	0.88[EUR][1000 genomes]
rs60022493	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62621396	0.88[ASN][1000 genomes]
rs6715033	0.83[EUR][1000 genomes]
rs6739553	0.83[EUR][1000 genomes]
rs6756876	0.83[EUR][1000 genomes]
rs723673	1.00[CHB][hapmap]
rs73924952	0.88[EUR][1000 genomes]
rs7562109	0.85[CHB][hapmap];0.87[TSI][hapmap]
rs7581702	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.82[ASN][1000 genomes]
rs7595362	0.81[ASN][1000 genomes]
rs998321	1.00[CHB][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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv873879	chr2:37200033-37299145	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37194400-37214200	Weak transcription	Pancreas	Pancrea
2	chr2:37194400-37229000	Weak transcription	Gastric	stomach
3	chr2:37194800-37211600	Weak transcription	HSMM	muscle
4	chr2:37194800-37226400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:37194800-37232400	Weak transcription	NHLF	lung
6	chr2:37195000-37213800	Weak transcription	Right Ventricle	heart
7	chr2:37195000-37224200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:37195200-37211200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:37195200-37214000	Weak transcription	Brain Anterior Caudate	brain
10	chr2:37195200-37217400	Weak transcription	NHDF-Ad	bronchial
11	chr2:37195200-37225400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:37195200-37252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:37195400-37208600	Weak transcription	Osteobl	bone
14	chr2:37195400-37213800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:37195400-37215000	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:37195400-37217600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:37195400-37227400	Weak transcription	A549	lung
18	chr2:37195400-37227600	Weak transcription	HUVEC	blood vessel
19	chr2:37195400-37248600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:37195600-37215200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:37195600-37231400	Weak transcription	Brain Angular Gyrus	brain
22	chr2:37195800-37208800	Weak transcription	Fetal Intestine Large	intestine
23	chr2:37195800-37229000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:37196000-37213800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:37196200-37208600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:37196200-37209400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:37196200-37226400	Weak transcription	Dnd41	blood
28	chr2:37199200-37208600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:37200200-37213800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:37201000-37225200	Weak transcription	K562	blood
31	chr2:37202000-37228800	Weak transcription	Spleen	Spleen
32	chr2:37202600-37215200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:37202800-37213800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:37202800-37214200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:37202800-37228800	Weak transcription	Aorta	Aorta
36	chr2:37203600-37231600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:37204200-37209600	Weak transcription	Fetal Heart	heart
38	chr2:37204200-37227600	Weak transcription	HepG2	liver
39	chr2:37204400-37228800	Weak transcription	Esophagus	oesophagus
40	chr2:37204600-37208600	Weak transcription	Placenta	Placenta
41	chr2:37205200-37212400	Weak transcription	NH-A	brain
42	chr2:37205200-37214200	Weak transcription	Thymus	Thymus
43	chr2:37205200-37220800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:37205200-37229400	Weak transcription	Brain Substantia Nigra	brain
45	chr2:37205400-37214200	Weak transcription	Fetal Thymus	thymus
46	chr2:37205600-37208600	Weak transcription	Small Intestine	intestine
47	chr2:37205600-37210600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr2:37205600-37225200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:37205800-37209000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:37205800-37209000	Strong transcription	Left Ventricle	heart

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