Variant report

Variant	rs72934340
Chromosome Location	chr11:76316514-76316515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76309744..76311546-chr11:76315205..76316740,2	K562	blood:
2	chr11:76309431..76311546-chr11:76315205..76316981,3	K562	blood:
3	chr11:76312055..76314144-chr11:76316042..76318637,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10899221	1.00[AFR][1000 genomes]
rs58107908	0.83[EUR][1000 genomes]
rs72934343	0.81[EUR][1000 genomes]
rs72944758	1.00[AFR][1000 genomes]
rs7951308	0.83[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	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	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76310600-76320200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:76311200-76320800	Weak transcription	NH-A	brain
3	chr11:76312400-76317800	Enhancers	Ovary	ovary
4	chr11:76312400-76318000	Enhancers	Placenta	Placenta
5	chr11:76312600-76317400	Enhancers	Colon Smooth Muscle	Colon
6	chr11:76312600-76317800	Enhancers	Fetal Stomach	stomach
7	chr11:76312800-76317000	Enhancers	Fetal Heart	heart
8	chr11:76312800-76317600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr11:76312800-76317800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:76312800-76317800	Enhancers	Right Atrium	heart
11	chr11:76312800-76318400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:76313000-76318000	Enhancers	NHDF-Ad	bronchial
13	chr11:76313200-76317000	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr11:76313200-76317200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:76313200-76317400	Enhancers	Left Ventricle	heart
16	chr11:76313200-76317800	Enhancers	NHLF	lung
17	chr11:76313200-76318000	Enhancers	Adipose Nuclei	Adipose
18	chr11:76313200-76318000	Enhancers	Fetal Muscle Leg	muscle
19	chr11:76313400-76317600	Enhancers	Right Ventricle	heart
20	chr11:76313400-76317800	Enhancers	Colonic Mucosa	Colon
21	chr11:76313400-76317800	Enhancers	Spleen	Spleen
22	chr11:76313400-76318200	Enhancers	Fetal Muscle Trunk	muscle
23	chr11:76313600-76317400	Enhancers	Lung	lung
24	chr11:76313800-76316800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:76313800-76317400	Enhancers	Rectal Smooth Muscle	rectum
26	chr11:76313800-76320000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:76314000-76317000	Weak transcription	Small Intestine	intestine
28	chr11:76314400-76316800	Enhancers	Psoas Muscle	Psoas
29	chr11:76314600-76327000	Weak transcription	Gastric	stomach
30	chr11:76314800-76317400	Enhancers	Stomach Smooth Muscle	stomach
31	chr11:76315200-76317000	Enhancers	Fetal Intestine Large	intestine
32	chr11:76315200-76317600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr11:76315400-76316800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:76315600-76316800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:76315600-76316800	Enhancers	Brain Hippocampus Middle	brain
36	chr11:76315600-76317000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr11:76315600-76317400	Enhancers	Duodenum Mucosa	Duodenum
38	chr11:76315600-76317400	Enhancers	Fetal Intestine Small	intestine
39	chr11:76315600-76317800	Enhancers	Osteobl	bone
40	chr11:76315800-76317400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr11:76316000-76317200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:76316000-76317800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:76316000-76321000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:76316200-76317200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:76316200-76320800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:76316200-76321000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr11:76316200-76321000	Weak transcription	Esophagus	oesophagus
48	chr11:76316200-76321800	Weak transcription	Pancreas	Pancrea
49	chr11:76316200-76322200	Weak transcription	Brain Angular Gyrus	brain
50	chr11:76316200-76325200	Weak transcription	Brain Anterior Caudate	brain

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