Variant report

Variant	rs11680698
Chromosome Location	chr2:62693949-62693950
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	chr2:62693761..62695980-chr2:62731518..62734032,2	K562	blood:
2	chr2:62693720..62695307-chr2:62932805..62934565,2	K562	blood:

Variant related genes	Relation type
ENSG00000115504	Chromatin interaction
ENSG00000186889	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11673903	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34784181	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7581180	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv2751	chr2:62691264-62737131	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62684800-62700800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:62685000-62694600	Enhancers	HepG2	liver
3	chr2:62685000-62696600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:62686200-62699000	Weak transcription	HSMMtube	muscle
5	chr2:62689200-62694400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:62689200-62694400	Weak transcription	NHEK	skin
7	chr2:62689400-62694400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:62689400-62694600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:62689400-62694600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:62689600-62697000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:62690400-62694600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:62690400-62700600	Weak transcription	Fetal Intestine Large	intestine
13	chr2:62691000-62695400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:62691400-62695400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:62691400-62695600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:62691400-62698800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:62691600-62695200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr2:62692200-62694800	Weak transcription	Osteobl	bone
19	chr2:62692200-62695600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:62692600-62695400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:62692800-62694000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr2:62693000-62694000	Enhancers	Stomach Smooth Muscle	stomach
23	chr2:62693000-62694200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr2:62693000-62695400	Enhancers	Fetal Muscle Leg	muscle
25	chr2:62693000-62695400	Enhancers	Fetal Stomach	stomach
26	chr2:62693200-62694000	Enhancers	Fetal Lung	lung
27	chr2:62693400-62694000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr2:62693400-62694000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:62693400-62694000	Enhancers	Fetal Brain Male	brain
30	chr2:62693400-62694000	Enhancers	Lung	lung
31	chr2:62693400-62694200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:62693400-62694200	Enhancers	Fetal Muscle Trunk	muscle
33	chr2:62693400-62694200	Enhancers	Placenta	Placenta
34	chr2:62693400-62694600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:62693400-62694600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:62693400-62694800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:62693400-62695200	Enhancers	Colon Smooth Muscle	Colon
38	chr2:62693400-62695400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:62693400-62695400	Enhancers	Ovary	ovary
40	chr2:62693400-62698400	Enhancers	Esophagus	oesophagus
41	chr2:62693400-62699400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:62693400-62702200	Enhancers	Adipose Nuclei	Adipose
43	chr2:62693600-62694000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr2:62693600-62694000	Enhancers	Fetal Brain Female	brain
45	chr2:62693600-62694000	Enhancers	Fetal Intestine Small	intestine
46	chr2:62693600-62694000	Enhancers	Left Ventricle	heart
47	chr2:62693600-62694000	Enhancers	Right Atrium	heart
48	chr2:62693600-62694000	Enhancers	Spleen	Spleen
49	chr2:62693600-62694000	Enhancers	NHLF	lung
50	chr2:62693600-62694200	Enhancers	Fetal Thymus	thymus

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