Variant report

Variant	rs71475924
Chromosome Location	chr11:47603006-47603007
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	chr11:47572291..47576392-chr11:47598056..47603377,7	K562	blood:
2	chr11:47585423..47588969-chr11:47597747..47604797,13	K562	blood:

Variant related genes	Relation type
ENSG00000213619	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000110536	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11039281	0.80[AMR][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	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47601400-47611800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:47601400-47613400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:47601600-47603400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:47601600-47603400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:47601800-47603400	Weak transcription	Ovary	ovary
6	chr11:47601800-47603600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:47601800-47606600	Strong transcription	Fetal Muscle Trunk	muscle
8	chr11:47601800-47607000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:47601800-47607200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:47602000-47603200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:47602000-47605800	Strong transcription	Fetal Kidney	kidney
12	chr11:47602000-47606000	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr11:47602000-47606000	Strong transcription	HSMMtube	muscle
14	chr11:47602000-47606800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:47602000-47606800	Strong transcription	Esophagus	oesophagus
16	chr11:47602000-47607000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:47602000-47607000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:47602000-47607000	Strong transcription	Fetal Lung	lung
19	chr11:47602000-47607200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:47602000-47607600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:47602000-47608000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:47602000-47608200	Strong transcription	Placenta	Placenta
23	chr11:47602200-47603200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:47602200-47603200	Weak transcription	Stomach Mucosa	stomach
25	chr11:47602200-47603400	Strong transcription	Left Ventricle	heart
26	chr11:47602200-47604000	Strong transcription	Small Intestine	intestine
27	chr11:47602200-47604400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:47602200-47605200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:47602200-47605400	Strong transcription	Spleen	Spleen
30	chr11:47602200-47605800	Strong transcription	Fetal Brain Male	brain
31	chr11:47602200-47606000	Strong transcription	HSMM	muscle
32	chr11:47602200-47606200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:47602200-47606200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr11:47602200-47606200	Strong transcription	NH-A	brain
35	chr11:47602200-47606400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:47602200-47606400	Strong transcription	NHEK	skin
37	chr11:47602200-47606400	Strong transcription	Osteobl	bone
38	chr11:47602200-47606600	Strong transcription	HepG2	liver
39	chr11:47602200-47606800	Strong transcription	Adipose Nuclei	Adipose
40	chr11:47602200-47606800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:47602200-47606800	Strong transcription	Fetal Muscle Leg	muscle
42	chr11:47602200-47607000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr11:47602200-47607000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:47602200-47607000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr11:47602200-47607000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:47602200-47607000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:47602200-47607000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:47602200-47607000	Strong transcription	Brain Substantia Nigra	brain
49	chr11:47602200-47607000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr11:47602200-47607000	Strong transcription	Rectal Smooth Muscle	rectum

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