Variant report

Variant	rs57196961
Chromosome Location	chr2:153423569-153423570
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11901762	0.89[AFR][1000 genomes]
rs16831371	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16831391	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16831421	1.00[EUR][1000 genomes]
rs60578674	0.89[AFR][1000 genomes]
rs6725060	1.00[EUR][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	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153399200-153427800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:153399400-153427600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:153399400-153429600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:153400000-153438000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:153400000-153468200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:153400600-153433400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:153400600-153442000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:153402200-153427400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:153402400-153427000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:153403200-153448000	Weak transcription	Lung	lung
11	chr2:153404200-153442400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:153404800-153425800	Weak transcription	Gastric	stomach
13	chr2:153405200-153441800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:153407600-153437800	Weak transcription	Pancreas	Pancrea
15	chr2:153414400-153433600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:153414800-153426000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:153414800-153428800	Strong transcription	HepG2	liver
18	chr2:153415000-153436800	Weak transcription	HUVEC	blood vessel
19	chr2:153415000-153438200	Weak transcription	Fetal Lung	lung
20	chr2:153415800-153434400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:153416400-153425000	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:153416400-153438000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:153416400-153454200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:153416400-153465200	Weak transcription	Left Ventricle	heart
25	chr2:153417000-153429400	Weak transcription	A549	lung
26	chr2:153417200-153426000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:153417600-153427200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:153417800-153442000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:153418000-153423600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:153418000-153424800	Weak transcription	Fetal Stomach	stomach
31	chr2:153418000-153426800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:153418000-153427000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:153418000-153427000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:153418000-153427000	Weak transcription	Psoas Muscle	Psoas
35	chr2:153418000-153427000	Weak transcription	HMEC	breast
36	chr2:153418000-153427200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:153418000-153427600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:153418000-153427600	Weak transcription	Aorta	Aorta
39	chr2:153418000-153427600	Weak transcription	NHLF	lung
40	chr2:153418000-153433200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:153418000-153434000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:153418200-153437400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:153418600-153427400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:153418600-153427600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:153418800-153444600	Weak transcription	Fetal Brain Male	brain
46	chr2:153419200-153427400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:153419200-153427600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:153419200-153430600	Weak transcription	Placenta	Placenta
49	chr2:153419200-153437400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:153419400-153424600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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