Variant report

Variant	rs7951284
Chromosome Location	chr11:76312798-76312799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76312055..76314144-chr11:76316042..76318637,2	K562	blood:
2	chr11:76309441..76311518-chr11:76311642..76314549,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10793176	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899237	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899238	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11236798	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236800	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236806	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11236808	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11604124	0.82[ASN][1000 genomes]
rs11605443	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11827686	0.82[EUR][1000 genomes]
rs12222706	0.81[ASN][1000 genomes]
rs12575191	0.86[ASN][1000 genomes]
rs4438063	0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs4485135	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4553390	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59753271	0.86[ASN][1000 genomes]
rs60413358	0.86[ASN][1000 genomes]
rs61380430	0.89[ASN][1000 genomes]
rs61566046	0.89[ASN][1000 genomes]
rs7942382	0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs7943599	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945414	0.86[ASN][1000 genomes]
rs7950468	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645696	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043912	chr11:76301316-76439095	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1039451	chr11:76301316-76440221	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv3332318	chr11:76310904-76312952	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1810781	chr11:76311021-76464814	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76303200-76313600	Weak transcription	Gastric	stomach
2	chr11:76303200-76315600	Weak transcription	Brain Angular Gyrus	brain
3	chr11:76303600-76315800	Weak transcription	Esophagus	oesophagus
4	chr11:76304200-76313200	Weak transcription	Stomach Mucosa	stomach
5	chr11:76304400-76313400	Weak transcription	Colonic Mucosa	Colon
6	chr11:76304400-76315600	Weak transcription	Pancreas	Pancrea
7	chr11:76305000-76312800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:76309600-76313000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:76309600-76313200	Weak transcription	Left Ventricle	heart
10	chr11:76309800-76313400	Weak transcription	Fetal Thymus	thymus
11	chr11:76309800-76313400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:76310200-76312800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:76310400-76312800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:76310400-76313400	Weak transcription	Fetal Lung	lung
15	chr11:76310400-76313400	Weak transcription	Right Ventricle	heart
16	chr11:76310400-76315600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:76310600-76312800	Weak transcription	Fetal Heart	heart
18	chr11:76310600-76313200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:76310600-76313200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:76310600-76313400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:76310600-76313400	Weak transcription	Spleen	Spleen
22	chr11:76310600-76313600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:76310600-76320200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:76310800-76312800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:76310800-76312800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:76310800-76313400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:76310800-76313400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr11:76310800-76313800	Weak transcription	Osteobl	bone
29	chr11:76311000-76312800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:76311000-76313000	Weak transcription	NHDF-Ad	bronchial
31	chr11:76311000-76313400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr11:76311000-76313600	Weak transcription	Small Intestine	intestine
33	chr11:76311200-76314000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:76311200-76320800	Weak transcription	NH-A	brain
35	chr11:76311400-76313400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:76311400-76313400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:76311400-76313600	Weak transcription	Lung	lung
38	chr11:76312400-76313000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:76312400-76314200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr11:76312400-76317800	Enhancers	Ovary	ovary
41	chr11:76312400-76318000	Enhancers	Placenta	Placenta
42	chr11:76312600-76312800	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr11:76312600-76312800	Enhancers	NHLF	lung
44	chr11:76312600-76317400	Enhancers	Colon Smooth Muscle	Colon
45	chr11:76312600-76317800	Enhancers	Fetal Stomach	stomach

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