Variant report

Variant	rs7950432
Chromosome Location	chr11:72543301-72543302
allele	A/C
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72540587..72543500-chr11:72581517..72583826,2	K562	blood:
2	chr11:72541772..72543922-chr11:72851050..72853149,2	K562	blood:
3	chr11:72541706..72544690-chr11:72549896..72552150,3	MCF-7	breast:
4	chr11:72525602..72528132-chr11:72542204..72544466,2	K562	blood:
5	chr11:72531684..72535625-chr11:72540135..72544294,5	MCF-7	breast:
6	chr11:72542136..72544245-chr11:72997946..73000591,2	MCF-7	breast:
7	chr11:72541661..72544573-chr11:72553379..72555257,2	MCF-7	breast:
8	chr11:72530756..72536501-chr11:72539062..72544380,12	MCF-7	breast:
9	chr11:72542645..72543678-chr11:72888974..72889768,3	MCF-7	breast:
10	chr11:72541766..72544288-chr11:72546935..72549671,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168010	Chromatin interaction
ENSG00000171631	Chromatin interaction
ENSG00000137478	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1025411	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10736787	1.00[YRI][hapmap]
rs10736789	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10751212	1.00[AFR][1000 genomes]
rs10751220	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10751221	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10751223	1.00[YRI][hapmap]
rs10898882	1.00[AFR][1000 genomes]
rs11235602	1.00[AFR][1000 genomes]
rs12278657	1.00[AFR][1000 genomes]
rs1367698	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1681501	1.00[AFR][1000 genomes]
rs1785219	1.00[AFR][1000 genomes]
rs1808621	1.00[AFR][1000 genomes]
rs1982038	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2043156	1.00[AFR][1000 genomes]
rs2116235	1.00[AFR][1000 genomes]
rs2365906	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2365907	1.00[YRI][hapmap]
rs2365908	1.00[AFR][1000 genomes]
rs2365909	1.00[AFR][1000 genomes]
rs3862793	1.00[AFR][1000 genomes]
rs3862795	1.00[AFR][1000 genomes]
rs3903492	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4329714	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4373969	1.00[AFR][1000 genomes]
rs4594026	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4643105	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs479093	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944015	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944017	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs494413	1.00[AFR][1000 genomes]
rs4944799	1.00[YRI][hapmap]
rs4944812	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944817	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944818	1.00[AFR][1000 genomes]
rs537980	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs560258	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs560857	1.00[AFR][1000 genomes]
rs593301	1.00[AFR][1000 genomes]
rs640283	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs658164	1.00[AFR][1000 genomes]
rs6592488	1.00[AFR][1000 genomes]
rs6592492	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6592493	1.00[AFR][1000 genomes]
rs6592499	1.00[AFR][1000 genomes]
rs6592501	1.00[AFR][1000 genomes]
rs671766	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7101936	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7115321	1.00[AFR][1000 genomes]
rs7122570	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7129851	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7931372	1.00[AFR][1000 genomes]
rs7937866	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7945119	1.00[AFR][1000 genomes]
rs7947513	1.00[AFR][1000 genomes]
rs7948244	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs919600	1.00[AFR][1000 genomes]
rs9795303	1.00[AFR][1000 genomes]
rs994305	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72529000-72543600	Strong transcription	Dnd41	blood
2	chr11:72533800-72549400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr11:72534000-72549200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:72534200-72550000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr11:72539800-72545000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:72539800-72546000	Weak transcription	Small Intestine	intestine
7	chr11:72539800-72547200	Weak transcription	HSMM	muscle
8	chr11:72540000-72543600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr11:72540000-72544600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:72540200-72616600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr11:72540400-72543800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:72540400-72544000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr11:72540600-72589800	Strong transcription	Primary B cells from cord blood	blood
14	chr11:72540800-72554000	Weak transcription	Colonic Mucosa	Colon
15	chr11:72541000-72546000	Weak transcription	Brain Germinal Matrix	brain
16	chr11:72541000-72547200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr11:72541000-72550800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:72541400-72546400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:72541400-72547600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:72541400-72549000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:72541600-72558400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:72541800-72546000	Weak transcription	Thymus	Thymus
23	chr11:72541800-72548600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:72541800-72548800	Weak transcription	Fetal Brain Female	brain
25	chr11:72542000-72543600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:72542000-72544400	Genic enhancers	Fetal Muscle Leg	muscle
27	chr11:72542000-72549400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:72542000-72553000	Weak transcription	Gastric	stomach
29	chr11:72542200-72544600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr11:72542200-72547800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:72542200-72548200	Enhancers	Fetal Heart	heart
32	chr11:72542200-72548600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:72542400-72543400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr11:72542400-72543400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr11:72542400-72543600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr11:72542400-72543600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr11:72542400-72544000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:72542400-72544000	Enhancers	Brain Hippocampus Middle	brain
39	chr11:72542400-72544600	Enhancers	Ovary	ovary
40	chr11:72542400-72545200	Enhancers	Fetal Kidney	kidney
41	chr11:72542400-72546000	Enhancers	Brain Anterior Caudate	brain
42	chr11:72542400-72546400	Enhancers	Adipose Nuclei	Adipose
43	chr11:72542400-72546600	Enhancers	Brain Angular Gyrus	brain
44	chr11:72542400-72547800	Enhancers	Fetal Lung	lung
45	chr11:72542600-72543400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:72542600-72543400	Enhancers	Rectal Smooth Muscle	rectum
47	chr11:72542600-72543400	Enhancers	HepG2	liver
48	chr11:72542600-72543400	Enhancers	HMEC	breast
49	chr11:72542600-72543400	Enhancers	HUVEC	blood vessel
50	chr11:72542600-72543400	Enhancers	NHDF-Ad	bronchial

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