Variant report

Variant	rs2100348
Chromosome Location	chr2:208906473-208906474
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	chr2:208905718..208908340-chr2:208910863..208912416,2	K562	blood:

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10192065	0.90[CEU][hapmap]
rs10193505	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10193523	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10196408	0.89[EUR][1000 genomes]
rs10198217	0.91[EUR][1000 genomes]
rs10497891	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs10497892	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10497894	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10804164	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10932218	0.89[EUR][1000 genomes]
rs10932220	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10932221	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10932223	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10932225	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10932226	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10932227	0.96[ASN][1000 genomes]
rs10932228	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11676872	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11679374	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11687058	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11687255	0.99[ASN][1000 genomes]
rs11688041	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11688936	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11694308	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11891423	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893393	0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12465154	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12469400	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12612391	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12694097	0.84[EUR][1000 genomes]
rs13002375	0.87[EUR][1000 genomes]
rs13002973	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs13005382	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13006024	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs13018735	0.90[ASN][1000 genomes]
rs13387203	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13420900	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13421034	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1466185	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1466186	0.92[ASN][1000 genomes]
rs1545503	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16840362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16840390	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16840392	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17598650	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17640827	0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs17641035	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1812697	0.90[EUR][1000 genomes]
rs1965865	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2044971	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2084870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2084871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2100349	0.90[EUR][1000 genomes]
rs2100351	0.89[EUR][1000 genomes]
rs2123294	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs2362782	0.90[EUR][1000 genomes]
rs2362783	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2362786	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2362788	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2362789	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2885599	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2885600	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34025579	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34335027	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34354040	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35594487	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35687108	0.84[EUR][1000 genomes]
rs35726860	0.90[EUR][1000 genomes]
rs35783183	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35968595	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3795911	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3795912	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4021953	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs4441448	0.80[EUR][1000 genomes]
rs4507086	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs4673377	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4675722	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4675723	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4675724	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4675725	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4675726	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55883450	0.92[ASN][1000 genomes]
rs56007263	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56340702	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56812613	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60679550	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6435403	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6435404	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712527	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6718363	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6718487	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6723557	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733166	0.82[ASN][1000 genomes]
rs6733857	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67351199	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6741366	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67417299	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7355275	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs7424035	0.94[ASN][1000 genomes]
rs7559294	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7559399	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7560222	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7562306	0.82[EUR][1000 genomes]
rs7570588	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7573629	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7582996	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7583013	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7585863	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7592525	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7595734	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7595823	0.82[CEU][hapmap]
rs7599531	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7604044	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7608939	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7609209	0.89[EUR][1000 genomes]
rs7609428	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs764299	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs896636	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs921554	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs921555	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs930746	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs966317	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9679132	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9789442	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9789446	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9789586	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9789678	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208896600-208907600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:208899000-208912000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:208899800-208906600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:208905000-208907600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:208905200-208908800	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:208905600-208906600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:208905600-208906600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:208905600-208906600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:208905600-208906600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:208905600-208906600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:208905600-208906600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:208905600-208906600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:208905600-208906600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:208905600-208906600	Weak transcription	Osteobl	bone
15	chr2:208905600-208906800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:208905600-208906800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:208905600-208906800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:208905600-208906800	Weak transcription	HSMM	muscle
19	chr2:208905600-208906800	Weak transcription	NHDF-Ad	bronchial
20	chr2:208905600-208907600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:208905600-208907600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:208905600-208907600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:208905600-208907600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:208905600-208907600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:208905600-208907800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:208905600-208907800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:208905600-208908800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:208905600-208909000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:208905600-208911400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:208905800-208906800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:208906400-208906600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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