Variant report

Variant	rs16831263
Chromosome Location	chr2:153371873-153371874
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153321826..153323779-chr2:153369568..153371880,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10207275	0.84[MEX][hapmap]
rs1155778	0.85[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12105467	0.88[EUR][1000 genomes]
rs12989726	0.85[EUR][1000 genomes]
rs12992900	0.85[EUR][1000 genomes]
rs13033468	0.85[EUR][1000 genomes]
rs1529998	0.85[ASN][1000 genomes]
rs16831043	1.00[ASW][hapmap]
rs16831135	0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs16831229	0.90[EUR][1000 genomes]
rs16831246	0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs16831247	0.88[EUR][1000 genomes]
rs16831391	1.00[ASW][hapmap];0.82[MEX][hapmap]
rs2577175	0.85[ASN][1000 genomes]
rs2577177	0.88[ASN][1000 genomes]
rs2577178	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2577181	0.89[MEX][hapmap]
rs2678294	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2678296	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2678298	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2678302	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2881338	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34424354	1.00[AFR][1000 genomes]
rs34520795	0.85[EUR][1000 genomes]
rs35455499	0.83[EUR][1000 genomes]
rs4664108	0.82[EUR][1000 genomes]
rs4664111	1.00[ASW][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4664584	0.90[EUR][1000 genomes]
rs4664588	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4664594	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56281840	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60280470	0.80[EUR][1000 genomes]
rs6709843	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6713711	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67374211	0.85[EUR][1000 genomes]
rs6739300	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6739557	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs71417228	0.90[EUR][1000 genomes]
rs72868235	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7579511	1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7582905	0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs7591606	0.84[MEX][hapmap]

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	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
3	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
4	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153357400-153375200	Weak transcription	Right Atrium	heart
2	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:153362400-153379400	Weak transcription	Fetal Brain Male	brain
4	chr2:153365000-153377600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:153365400-153377200	Weak transcription	Small Intestine	intestine
6	chr2:153365600-153375200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:153365600-153386000	Weak transcription	Fetal Stomach	stomach
8	chr2:153368400-153374600	Enhancers	Brain Substantia Nigra	brain
9	chr2:153368600-153375200	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:153369200-153372600	Enhancers	Brain Angular Gyrus	brain
11	chr2:153369600-153372400	Enhancers	Brain Anterior Caudate	brain
12	chr2:153369800-153372200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:153369800-153372200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:153370400-153375200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:153370400-153375400	Weak transcription	NH-A	brain
16	chr2:153370600-153374400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:153370600-153374400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:153370600-153375000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:153370600-153375200	Weak transcription	Aorta	Aorta
20	chr2:153370600-153375200	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:153370600-153375600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:153370800-153373800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:153370800-153373800	Weak transcription	NHEK	skin
24	chr2:153370800-153374200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:153370800-153375200	Enhancers	Brain Hippocampus Middle	brain
26	chr2:153370800-153375800	Weak transcription	Osteobl	bone
27	chr2:153371000-153374200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:153371000-153374400	Weak transcription	HMEC	breast
29	chr2:153371000-153374600	Weak transcription	A549	lung
30	chr2:153371000-153375200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:153371000-153375800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:153371000-153379200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:153371600-153375200	Weak transcription	Psoas Muscle	Psoas

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