Variant report

Variant	rs991435
Chromosome Location	chr11:85959364-85959365
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85957358..85959718-chr11:85962458..85964568,2	K562	blood:
2	chr11:85957956..85960491-chr11:85965054..85967049,2	K562	blood:
3	chr11:85951079..85952582-chr11:85956879..85959583,2	K562	blood:
4	chr11:85958310..85960739-chr11:85984735..85987503,2	MCF-7	breast:
5	chr11:85374101..85375834-chr11:85958556..85961533,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137504	Chromatin interaction
ENSG00000074266	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10751137	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs10792841	0.98[EUR][1000 genomes]
rs10792842	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10792843	0.96[CEU][hapmap];0.91[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs10898448	0.85[EUR][1000 genomes]
rs10898449	0.87[EUR][1000 genomes]
rs10898452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898457	1.00[CEU][hapmap];0.91[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs10898458	0.81[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.84[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10898459	0.96[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10898461	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10898462	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10898463	0.96[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11234594	0.98[EUR][1000 genomes]
rs11234596	0.81[EUR][1000 genomes]
rs12284085	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1466804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497725	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1497726	0.86[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1874694	0.94[EUR][1000 genomes]
rs2270680	0.96[CEU][hapmap];0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2270681	0.81[ASW][hapmap];0.96[CEU][hapmap];0.83[GIH][hapmap];0.84[LWK][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs3758881	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs6592279	0.96[CEU][hapmap];0.87[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7101712	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs7120070	0.92[EUR][1000 genomes]
rs7120222	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7924472	0.88[CEU][hapmap];0.89[GIH][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs7942971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950820	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7951030	0.81[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];0.84[LWK][hapmap];0.89[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7951188	0.86[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs974144	1.00[CEU][hapmap];0.91[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][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	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85957000-85963800	Weak transcription	Spleen	Spleen
2	chr11:85957200-85959800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:85957200-85959800	Weak transcription	Pancreas	Pancrea
4	chr11:85957200-85963800	Weak transcription	Lung	lung
5	chr11:85957200-85972400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:85957200-85972400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:85957200-85972400	Weak transcription	Esophagus	oesophagus
8	chr11:85957200-85995400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:85957400-85959600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr11:85957400-85959600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:85957400-85959800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:85957400-85960000	Enhancers	Small Intestine	intestine
13	chr11:85957400-85961400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr11:85957400-85961600	Enhancers	Primary B cells from peripheral blood	blood
15	chr11:85957400-85962400	Weak transcription	Placenta	Placenta
16	chr11:85957400-85967600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:85957400-85985600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:85957400-86008000	Weak transcription	Psoas Muscle	Psoas
19	chr11:85957600-85959400	Enhancers	Fetal Heart	heart
20	chr11:85957600-85959400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr11:85957600-85959600	Enhancers	Liver	Liver
22	chr11:85957600-85961200	Enhancers	Primary T cells from cord blood	blood
23	chr11:85957600-85961600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr11:85957800-85959400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:85957800-85959600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:85957800-85959800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:85957800-85959800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:85957800-85960000	Enhancers	Adipose Nuclei	Adipose
29	chr11:85957800-85960200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:85957800-85960600	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:85957800-85960800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:85957800-85961600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr11:85957800-85962000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr11:85957800-85962600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr11:85957800-85962800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:85957800-85967800	Weak transcription	Thymus	Thymus
37	chr11:85957800-85968000	Weak transcription	HSMMtube	muscle
38	chr11:85957800-85968600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr11:85957800-85968600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:85957800-85997200	Weak transcription	Colonic Mucosa	Colon
41	chr11:85957800-85999800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:85958000-85959400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:85958000-85959400	Enhancers	NHDF-Ad	bronchial
44	chr11:85958000-85960000	Enhancers	Fetal Brain Female	brain
45	chr11:85958000-85960400	Enhancers	Primary T cells fromperipheralblood	blood
46	chr11:85958000-85960800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:85958000-85961000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:85958000-85961000	Weak transcription	Brain Substantia Nigra	brain
49	chr11:85958000-85961000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr11:85958000-85961600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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