Variant report

Variant	rs66663920
Chromosome Location	chr2:153257423-153257424
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10931079	0.96[ASN][1000 genomes]
rs11694392	0.83[ASN][1000 genomes]
rs11696004	0.83[ASN][1000 genomes]
rs12476186	0.96[ASN][1000 genomes]
rs12693362	0.80[ASN][1000 genomes]
rs13388095	0.80[ASN][1000 genomes]
rs16831021	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16831065	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16831082	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs16831093	0.89[ASN][1000 genomes]
rs16831100	0.89[ASN][1000 genomes]
rs16831118	0.80[ASN][1000 genomes]
rs2345874	0.96[ASN][1000 genomes]
rs2881335	0.83[ASN][1000 genomes]
rs34006820	0.80[ASN][1000 genomes]
rs35662043	0.86[ASN][1000 genomes]
rs3811576	0.83[ASN][1000 genomes]
rs58219183	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66526317	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6746538	0.96[ASN][1000 genomes]
rs6757782	0.89[ASN][1000 genomes]
rs6761178	0.96[ASN][1000 genomes]
rs67689907	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67761838	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73012774	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73012784	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7587450	0.89[ASN][1000 genomes]
rs7601047	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	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
4	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153238600-153258600	Weak transcription	Left Ventricle	heart
2	chr2:153246600-153266600	Enhancers	Brain Substantia Nigra	brain
3	chr2:153247000-153257800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:153247400-153277600	Weak transcription	Fetal Intestine Small	intestine
5	chr2:153247800-153258800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:153249600-153259000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:153250400-153257600	Weak transcription	HepG2	liver
8	chr2:153250800-153258800	Weak transcription	Small Intestine	intestine
9	chr2:153252000-153269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:153252400-153258000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:153253000-153257600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr2:153253000-153258400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:153253000-153258800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:153253000-153260600	Enhancers	Brain Anterior Caudate	brain
15	chr2:153253200-153257800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:153253200-153258000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:153253200-153258600	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:153253200-153258800	Weak transcription	Right Atrium	heart
19	chr2:153253200-153259000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:153253200-153259600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:153253200-153260000	Weak transcription	Aorta	Aorta
22	chr2:153253200-153261600	Weak transcription	HSMM	muscle
23	chr2:153253200-153261600	Weak transcription	NH-A	brain
24	chr2:153253200-153261600	Weak transcription	NHLF	lung
25	chr2:153253200-153261800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:153253200-153262800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:153253200-153263200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:153253200-153263400	Enhancers	Brain Hippocampus Middle	brain
29	chr2:153253200-153263800	Weak transcription	Fetal Brain Female	brain
30	chr2:153253200-153266400	Enhancers	Brain Cingulate Gyrus	brain
31	chr2:153253400-153259000	Weak transcription	Adipose Nuclei	Adipose
32	chr2:153253600-153257800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:153253600-153258000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:153253600-153258600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:153253600-153258600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:153253600-153261800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:153253800-153258600	Weak transcription	Fetal Brain Male	brain
38	chr2:153253800-153258800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:153253800-153259000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:153253800-153259000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:153253800-153259600	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:153253800-153262400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:153254000-153259000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:153254000-153260000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:153254000-153263400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:153254200-153258800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:153255200-153257800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:153255200-153259000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:153255400-153258000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:153255400-153259200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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