Variant report

Variant	rs71417235
Chromosome Location	chr2:153513258-153513259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153507139..153509192-chr2:153512768..153515123,2	K562	blood:
2	chr2:153506687..153509225-chr2:153511022..153513824,2	K562	blood:
3	chr2:153503464..153505939-chr2:153511056..153513518,3	MCF-7	breast:
4	chr2:153510920..153513801-chr2:153526345..153529241,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10497113	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931263	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931271	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931279	0.83[EUR][1000 genomes]
rs1135617	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11674911	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11676069	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11694512	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11901227	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12475871	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478681	1.00[ASN][1000 genomes]
rs12693429	1.00[ASN][1000 genomes]
rs12989903	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12995388	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12999331	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003670	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13006652	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13014141	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13017131	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13022436	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13023779	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023975	0.83[EUR][1000 genomes]
rs1370499	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831440	0.83[EUR][1000 genomes]
rs16831456	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328776	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17400456	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400938	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17400952	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17400980	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2083097	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346551	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34199006	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34454505	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34469468	0.84[EUR][1000 genomes]
rs34619076	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34775858	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35002744	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35421285	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35754252	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35894330	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35937874	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36107565	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36122595	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3811568	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811569	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4575677	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6434172	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66492085	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66849546	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728189	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6736003	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71417232	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72871148	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591590	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7598878	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[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	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
2	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
3	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153472000-153522000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:153492400-153513400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:153495400-153517400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:153497000-153531800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:153497200-153514000	Weak transcription	Colonic Mucosa	Colon
6	chr2:153497200-153521200	Weak transcription	Esophagus	oesophagus
7	chr2:153497400-153516200	Weak transcription	Spleen	Spleen
8	chr2:153500400-153517200	Weak transcription	Hela-S3	cervix
9	chr2:153501400-153531800	Weak transcription	Aorta	Aorta
10	chr2:153503800-153514600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:153504400-153538200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:153504600-153513600	Weak transcription	Fetal Kidney	kidney
13	chr2:153504600-153514800	Weak transcription	Fetal Heart	heart
14	chr2:153504600-153516000	Weak transcription	Fetal Intestine Small	intestine
15	chr2:153505000-153513400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:153505000-153515200	Weak transcription	Ovary	ovary
17	chr2:153505000-153516800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:153505000-153517400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:153505000-153517400	Weak transcription	Gastric	stomach
20	chr2:153505000-153517400	Weak transcription	Right Ventricle	heart
21	chr2:153505000-153540200	Strong transcription	Fetal Thymus	thymus
22	chr2:153505200-153513400	Weak transcription	Brain Angular Gyrus	brain
23	chr2:153505200-153514800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:153505400-153513400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:153505400-153513400	Weak transcription	Brain Anterior Caudate	brain
26	chr2:153505400-153513400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:153505400-153513400	Weak transcription	Brain Substantia Nigra	brain
28	chr2:153505400-153517000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:153505400-153539200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:153505400-153540200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:153505600-153515000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:153505600-153516800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr2:153505600-153534400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:153505600-153537000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:153505600-153538400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:153506000-153538000	Strong transcription	Liver	Liver
37	chr2:153506200-153539800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:153506200-153546800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr2:153507000-153523000	Strong transcription	HUVEC	blood vessel
40	chr2:153507000-153538400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:153507000-153541600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:153507200-153538200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:153507400-153530200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:153507600-153526800	Weak transcription	Stomach Mucosa	stomach
45	chr2:153508000-153542000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:153508000-153550800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr2:153508200-153532800	Strong transcription	HSMM	muscle
48	chr2:153508200-153533600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:153508400-153513400	Strong transcription	GM12878-XiMat	blood
50	chr2:153508400-153516000	Strong transcription	HMEC	breast

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