Variant report

Variant	rs72957640
Chromosome Location	chr11:70815284-70815285
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	chr11:70813810..70815755-chr11:70820348..70822135,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11823567	0.85[EUR][1000 genomes]
rs12420697	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17431746	1.00[ASN][1000 genomes]
rs55753840	1.00[ASN][1000 genomes]
rs56188890	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123599	1.00[ASN][1000 genomes]
rs72957631	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957634	0.85[EUR][1000 genomes]
rs72957637	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957676	1.00[ASN][1000 genomes]
rs72957677	1.00[ASN][1000 genomes]
rs72957679	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:70796000-70820000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:70799200-70823400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:70799800-70831000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:70800600-70850800	Weak transcription	Right Atrium	heart
5	chr11:70800800-70824400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:70801200-70824600	Strong transcription	Liver	Liver
7	chr11:70803600-70820200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:70805400-70820000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:70805800-70819600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:70806000-70820200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:70806200-70818000	Weak transcription	Placenta	Placenta
12	chr11:70806400-70820400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:70809000-70816600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:70809400-70817600	Weak transcription	Fetal Intestine Large	intestine
15	chr11:70809400-70817600	Weak transcription	Gastric	stomach
16	chr11:70809400-70818600	Weak transcription	Pancreas	Pancrea
17	chr11:70809400-70819000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:70809400-70819000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:70809400-70819200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:70809400-70820000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:70809400-70820000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:70809400-70820200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:70809400-70835200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:70809600-70817800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:70809600-70820200	Weak transcription	A549	lung
26	chr11:70809800-70816600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:70809800-70817600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:70809800-70818000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:70812000-70816400	Strong transcription	Fetal Intestine Small	intestine
30	chr11:70813800-70830200	Strong transcription	HepG2	liver
31	chr11:70814200-70817600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:70814200-70821200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:70814400-70815400	Weak transcription	Fetal Stomach	stomach
34	chr11:70814400-70817800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:70814600-70818600	Weak transcription	Spleen	Spleen
36	chr11:70814800-70824400	Weak transcription	Stomach Mucosa	stomach
37	chr11:70815200-70816000	Strong transcription	Lung	lung

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