Variant report

Variant	rs7947018
Chromosome Location	chr11:35033314-35033315
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	chr11:35028741..35031427-chr11:35032787..35035913,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10488807	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16926653	0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16926689	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16926697	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34582941	0.83[AMR][1000 genomes]
rs6484744	0.83[AMR][1000 genomes]
rs6484745	0.83[AMR][1000 genomes]
rs6484747	0.83[AMR][1000 genomes]
rs7105901	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7106038	0.83[AMR][1000 genomes]
rs7109473	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7109857	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7117023	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7121982	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7123595	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7123633	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7126300	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7126403	0.83[AMR][1000 genomes]
rs7129560	0.85[AMR][1000 genomes]
rs7936015	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7941932	0.83[AMR][1000 genomes]
rs9666748	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv430371	chr11:34975067-35111292	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv1826391	chr11:35000983-35098193	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv897215	chr11:35009233-35048359	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv540999	chr11:35021936-35185471	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35000600-35035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:35007200-35035200	Weak transcription	Fetal Stomach	stomach
3	chr11:35019800-35035400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:35025400-35035200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:35028400-35033800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr11:35028400-35039600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:35028600-35033600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:35028600-35051600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:35029200-35033400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:35029200-35033400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr11:35029200-35033600	Weak transcription	Primary B cells from cord blood	blood
12	chr11:35029200-35033800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr11:35029200-35033800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:35029600-35036200	Enhancers	Fetal Muscle Leg	muscle
15	chr11:35029800-35033600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:35029800-35034200	Enhancers	NHDF-Ad	bronchial
17	chr11:35030000-35035000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr11:35030000-35035000	Weak transcription	Adipose Nuclei	Adipose
19	chr11:35030000-35037400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:35030400-35033400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr11:35030400-35033600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:35030400-35036000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:35030600-35033400	Enhancers	Osteobl	bone
24	chr11:35030800-35034400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:35031200-35033800	Weak transcription	Thymus	Thymus
26	chr11:35031200-35034800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:35031400-35035400	Weak transcription	Colon Smooth Muscle	Colon
28	chr11:35031600-35033800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:35031600-35033800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:35031600-35035400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:35031600-35035400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:35031800-35033800	Weak transcription	Colonic Mucosa	Colon
33	chr11:35031800-35035000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:35031800-35035000	Weak transcription	NH-A	brain
35	chr11:35032000-35035000	Weak transcription	Stomach Mucosa	stomach
36	chr11:35032200-35033800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr11:35032200-35035000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr11:35032200-35035600	Weak transcription	HSMM	muscle
39	chr11:35032200-35035800	Weak transcription	HSMMtube	muscle
40	chr11:35032200-35036000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:35032200-35037600	Weak transcription	Fetal Intestine Large	intestine
42	chr11:35032400-35034600	Weak transcription	Small Intestine	intestine
43	chr11:35032400-35035400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:35032600-35033400	Weak transcription	Gastric	stomach
45	chr11:35032600-35033400	Weak transcription	Pancreas	Pancrea
46	chr11:35032600-35033800	Weak transcription	HMEC	breast
47	chr11:35032600-35034600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:35032600-35035000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:35032600-35035000	Weak transcription	NHEK	skin
50	chr11:35032600-35035800	Enhancers	Hela-S3	cervix

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