Variant report

Variant	rs16853638
Chromosome Location	chr2:168347028-168347029
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1025430	1.00[EUR][1000 genomes]
rs1036130	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1147152	1.00[EUR][1000 genomes]
rs1147153	1.00[EUR][1000 genomes]
rs1147156	1.00[EUR][1000 genomes]
rs11891312	1.00[EUR][1000 genomes]
rs12104575	0.86[AFR][1000 genomes]
rs1226903	1.00[EUR][1000 genomes]
rs1227108	1.00[EUR][1000 genomes]
rs1227109	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1227110	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1227112	1.00[EUR][1000 genomes]
rs1227118	1.00[EUR][1000 genomes]
rs1227119	1.00[EUR][1000 genomes]
rs1227121	1.00[EUR][1000 genomes]
rs1227124	1.00[EUR][1000 genomes]
rs1227125	1.00[EUR][1000 genomes]
rs1227126	1.00[EUR][1000 genomes]
rs1228654	1.00[EUR][1000 genomes]
rs1228655	1.00[EUR][1000 genomes]
rs1228656	0.84[AFR][1000 genomes]
rs1236835	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1237507	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1237906	1.00[EUR][1000 genomes]
rs1238297	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1238300	1.00[EUR][1000 genomes]
rs1239011	1.00[EUR][1000 genomes]
rs1239012	1.00[EUR][1000 genomes]
rs13413032	1.00[EUR][1000 genomes]
rs1431905	1.00[EUR][1000 genomes]
rs1431910	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1523880	1.00[EUR][1000 genomes]
rs1625491	1.00[EUR][1000 genomes]
rs1653386	1.00[EUR][1000 genomes]
rs1653403	1.00[EUR][1000 genomes]
rs1653406	1.00[EUR][1000 genomes]
rs16853656	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1730672	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1730685	1.00[EUR][1000 genomes]
rs1730701	1.00[EUR][1000 genomes]
rs1730702	1.00[EUR][1000 genomes]
rs1730709	1.00[EUR][1000 genomes]
rs1730724	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1964366	1.00[EUR][1000 genomes]
rs2436053	1.00[EUR][1000 genomes]
rs2464040	1.00[EUR][1000 genomes]
rs2617377	1.00[EUR][1000 genomes]
rs2617384	1.00[EUR][1000 genomes]
rs28439206	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28699542	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58329901	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58381721	1.00[EUR][1000 genomes]
rs58529068	1.00[EUR][1000 genomes]
rs60039058	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6432999	1.00[EUR][1000 genomes]
rs6712894	1.00[EUR][1000 genomes]
rs6719316	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6725468	1.00[EUR][1000 genomes]
rs6729236	1.00[EUR][1000 genomes]
rs6740851	1.00[EUR][1000 genomes]
rs6750622	1.00[EUR][1000 genomes]
rs73022071	1.00[EUR][1000 genomes]
rs73022078	1.00[EUR][1000 genomes]
rs73022085	1.00[EUR][1000 genomes]
rs73022089	1.00[EUR][1000 genomes]
rs73023884	1.00[EUR][1000 genomes]
rs73024003	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73024049	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73024058	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73972301	1.00[EUR][1000 genomes]
rs7557157	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7567053	1.00[EUR][1000 genomes]
rs7567252	1.00[EUR][1000 genomes]
rs7606712	1.00[EUR][1000 genomes]
rs979974	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs991159	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs994428	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	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3388045	chr2:168289403-168424317	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv834449	chr2:168340043-168511856	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168337000-168355400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:168337200-168348200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:168338200-168348200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:168338200-168366000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:168338400-168349400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:168338400-168352400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:168341600-168352600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:168341600-168352800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:168341600-168365200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:168342200-168352400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:168343600-168347600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:168343600-168352400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:168345600-168347200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:168345600-168347400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:168345800-168347200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:168345800-168347400	Enhancers	Colon Smooth Muscle	Colon
17	chr2:168346000-168347200	Enhancers	Fetal Muscle Leg	muscle
18	chr2:168346200-168358800	Weak transcription	Fetal Lung	lung
19	chr2:168346400-168347200	Enhancers	Brain Germinal Matrix	brain
20	chr2:168346800-168349800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:168347000-168347800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:168347000-168348000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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