Variant report

Variant	rs2568048
Chromosome Location	chr11:8850481-8850482
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	chr11:8847275..8850671-chr11:8853327..8856938,3	K562	blood:

Variant related genes	Relation type
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2116513	0.81[ASN][1000 genomes]
rs2436176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2568040	0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2568067	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2653617	0.93[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs891787	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv527920	chr11:8816695-8856822	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3372624	chr11:8848476-8852774	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8833200-8859800	Weak transcription	Aorta	Aorta
2	chr11:8845200-8854200	Weak transcription	Psoas Muscle	Psoas
3	chr11:8845800-8860000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:8846600-8854400	Weak transcription	Fetal Intestine Large	intestine
5	chr11:8847000-8852800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:8847600-8852600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:8848000-8852800	Enhancers	Fetal Thymus	thymus
8	chr11:8848200-8853400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:8848400-8850800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:8848600-8850800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:8848600-8850800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr11:8848800-8852200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr11:8848800-8852400	Strong transcription	Stomach Smooth Muscle	stomach
14	chr11:8848800-8853000	Weak transcription	HMEC	breast
15	chr11:8849000-8850600	Weak transcription	Esophagus	oesophagus
16	chr11:8849000-8852600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:8849000-8852600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:8849000-8853000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:8849000-8853800	Genic enhancers	Fetal Muscle Leg	muscle
20	chr11:8849000-8854000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:8849000-8854000	Strong transcription	Fetal Stomach	stomach
22	chr11:8849000-8854000	Weak transcription	Stomach Mucosa	stomach
23	chr11:8849000-8854000	Weak transcription	Hela-S3	cervix
24	chr11:8849000-8854200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr11:8849000-8854200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:8849000-8854200	Weak transcription	A549	lung
27	chr11:8849200-8850800	Genic enhancers	NHDF-Ad	bronchial
28	chr11:8849200-8852000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:8849200-8852200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:8849200-8852600	Weak transcription	NHEK	skin
31	chr11:8849200-8853400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:8849200-8853600	Weak transcription	NH-A	brain
33	chr11:8849200-8854000	Weak transcription	Fetal Heart	heart
34	chr11:8849400-8850600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:8849400-8850600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr11:8849400-8850800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr11:8849400-8852800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:8849400-8853600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr11:8849400-8854000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:8849400-8854000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:8849400-8854200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:8849600-8850800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:8849600-8850800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:8849600-8850800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:8849600-8851800	Genic enhancers	Placenta	Placenta
46	chr11:8849600-8853600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:8849600-8854000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:8849800-8850800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:8849800-8850800	Enhancers	Duodenum Mucosa	Duodenum
50	chr11:8849800-8850800	Genic enhancers	NHLF	lung

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