Variant report

Variant	rs6761253
Chromosome Location	chr2:72998075-72998076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:72997856..72998638-chr2:73404190..73404782,2	K562	blood:
2	chr2:72996932..72999330-chr2:73113531..73115503,2	MCF-7	breast:
3	chr2:72981525..72984417-chr2:72997552..72999644,2	MCF-7	breast:
4	chr2:72997752..72999020-chr2:73086588..73087576,7	K562	blood:
5	chr2:72997707..72998674-chr2:73114643..73115475,6	K562	blood:
6	chr2:72997728..72998659-chr2:73086602..73087607,8	MCF-7	breast:
7	chr2:72997697..72998629-chr2:73089302..73090282,5	K562	blood:
8	chr2:72997801..72998975-chr2:73089049..73090244,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000116096	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10204141	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10496187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126378	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs11126381	0.91[ASN][1000 genomes]
rs11126382	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126386	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11689339	0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs11884266	0.93[YRI][hapmap]
rs11886503	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11892598	0.96[YRI][hapmap]
rs12476137	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12479094	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12614041	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12615875	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12619068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12619565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1562361	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs17008293	0.86[YRI][hapmap]
rs17008315	1.00[YRI][hapmap]
rs17008369	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs17008371	0.96[YRI][hapmap];0.93[AFR][1000 genomes]
rs1876487	1.00[JPT][hapmap]
rs1876488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2063168	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2068410	1.00[CEU][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4597553	1.00[CEU][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4852896	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4852897	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4852900	0.83[EUR][1000 genomes]
rs55642420	0.83[AFR][1000 genomes]
rs55749009	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55802296	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56058174	0.92[AFR][1000 genomes]
rs56181835	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56711961	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57264301	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58890506	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59216875	0.92[AFR][1000 genomes]
rs59615613	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60284189	0.94[AFR][1000 genomes]
rs60314340	0.83[AFR][1000 genomes]
rs60584321	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61619102	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61736520	0.89[AFR][1000 genomes]
rs66469454	0.83[AFR][1000 genomes]
rs66509842	0.95[AFR][1000 genomes]
rs66794803	0.88[AFR][1000 genomes]
rs6713143	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs6713712	0.96[YRI][hapmap]
rs6716335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6727086	0.81[ASN][1000 genomes]
rs6736649	0.84[AFR][1000 genomes]
rs67919884	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67927720	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7567893	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7577528	0.88[EUR][1000 genomes]
rs7586339	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7586886	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7593084	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7604402	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7607226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970577	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72923000-73008600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:72981400-73000800	Weak transcription	Pancreas	Pancrea
3	chr2:72983200-72999200	Weak transcription	Left Ventricle	heart
4	chr2:72985200-73008400	Weak transcription	Right Atrium	heart
5	chr2:72985200-73015800	Weak transcription	Ovary	ovary
6	chr2:72989400-73015800	Weak transcription	Placenta	Placenta
7	chr2:72989600-73004000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:72990400-73006600	Weak transcription	Fetal Lung	lung
9	chr2:72990800-73018400	Weak transcription	Aorta	Aorta
10	chr2:72991200-72999800	Weak transcription	Fetal Intestine Small	intestine
11	chr2:72991200-73002200	Weak transcription	HepG2	liver
12	chr2:72991200-73015800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:72991200-73015800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:72991200-73023000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:72991400-72999400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:72992000-72999200	Weak transcription	Fetal Stomach	stomach
17	chr2:72992200-73004600	Weak transcription	Lung	lung
18	chr2:72992400-73007600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:72993400-73002400	Weak transcription	Fetal Heart	heart
20	chr2:72993600-73009000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:72993800-73003800	Weak transcription	A549	lung
22	chr2:72993800-73005200	Weak transcription	HMEC	breast
23	chr2:72994000-73005400	Weak transcription	NHEK	skin
24	chr2:72994400-73005400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:72994600-73005400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:72996200-73005200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:72996600-73002000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:72996600-73002000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:72996600-73002200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:72997800-72999000	Enhancers	Brain Hippocampus Middle	brain

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