Variant report

Variant	rs558936196
Chromosome Location	chr2:62692161-62692162
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	chr2:62690827..62693709-chr2:62697942..62699978,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM17-3	chr2:62691897-62692862	l_1844_chr2:62668271-62712206_testes

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62684800-62693600	Weak transcription	Right Atrium	heart
2	chr2:62684800-62700800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:62685000-62694600	Enhancers	HepG2	liver
4	chr2:62685000-62696600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:62685600-62693400	Weak transcription	Ovary	ovary
6	chr2:62686200-62693400	Weak transcription	Adipose Nuclei	Adipose
7	chr2:62686200-62699000	Weak transcription	HSMMtube	muscle
8	chr2:62686600-62692600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:62687400-62693600	Weak transcription	Fetal Brain Female	brain
10	chr2:62687600-62693400	Weak transcription	Fetal Brain Male	brain
11	chr2:62688000-62693200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:62688200-62692800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:62688200-62693000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:62688200-62693200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:62689200-62693400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:62689200-62694400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:62689200-62694400	Weak transcription	NHEK	skin
18	chr2:62689400-62693400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:62689400-62693400	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:62689400-62693400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:62689400-62693400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:62689400-62694400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:62689400-62694600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:62689400-62694600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:62689600-62693000	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:62689600-62693000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:62689600-62693400	Weak transcription	Esophagus	oesophagus
28	chr2:62689600-62693600	Weak transcription	NHDF-Ad	bronchial
29	chr2:62689600-62693600	Weak transcription	NHLF	lung
30	chr2:62689600-62697000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:62689800-62693600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:62690000-62693600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr2:62690200-62693000	Weak transcription	A549	lung
34	chr2:62690400-62692800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr2:62690400-62694600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:62690400-62700600	Weak transcription	Fetal Intestine Large	intestine
37	chr2:62691000-62693400	Weak transcription	Placenta	Placenta
38	chr2:62691000-62693800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:62691000-62695400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr2:62691200-62692400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr2:62691400-62692200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:62691400-62693600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:62691400-62695400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:62691400-62695600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:62691400-62698800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:62691600-62692200	Enhancers	Osteobl	bone
47	chr2:62691600-62692800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:62691600-62693400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:62691600-62693600	Weak transcription	Liver	Liver
50	chr2:62691600-62693600	Weak transcription	Spleen	Spleen

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