Variant report

Variant	rs12635994
Chromosome Location	chr3:133922253-133922254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10935097	0.82[ASN][1000 genomes]
rs10935104	1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs13068409	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13075720	0.81[ASN][1000 genomes]
rs13099506	0.93[ASN][1000 genomes]
rs28514329	0.97[ASN][1000 genomes]
rs35015318	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35111284	0.98[ASN][1000 genomes]
rs35775034	0.89[ASN][1000 genomes]
rs4077158	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077643	0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4280635	0.88[CEU][hapmap];0.93[CHB][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4404422	0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6439464	0.91[ASN][1000 genomes]
rs6439469	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67022177	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6783086	0.98[ASN][1000 genomes]
rs6783294	0.93[CHB][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs6786384	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6795164	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6796404	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6804370	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73215351	0.86[ASN][1000 genomes]
rs7429840	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7620941	0.83[ASN][1000 genomes]
rs7623609	0.80[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7639683	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7641162	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9809556	0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9822076	0.93[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs9822469	0.96[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9822749	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9829505	0.95[ASN][1000 genomes]
rs9839609	0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9846664	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9846871	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9858000	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9859680	0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9860060	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9860268	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9865773	0.81[ASN][1000 genomes]
rs9865808	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9877899	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9880098	0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9881896	0.95[ASN][1000 genomes]
rs9882168	0.93[ASN][1000 genomes]
rs9882590	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9882927	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133874400-133929400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:133874600-133933600	Weak transcription	Colonic Mucosa	Colon
3	chr3:133877600-133935200	Weak transcription	Psoas Muscle	Psoas
4	chr3:133877800-133950200	Weak transcription	Small Intestine	intestine
5	chr3:133888400-133923600	Weak transcription	Fetal Heart	heart
6	chr3:133894800-133935200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:133894800-133946800	Weak transcription	Pancreas	Pancrea
8	chr3:133895000-133950000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:133895000-133950200	Weak transcription	Gastric	stomach
10	chr3:133895200-133927200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr3:133895600-133942800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr3:133895800-133923400	Weak transcription	Lung	lung
13	chr3:133902000-133930400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:133903000-133929000	Weak transcription	GM12878-XiMat	blood
15	chr3:133907800-133927400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:133909200-133943000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:133911600-133929600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:133911600-133929800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:133917400-133922400	Strong transcription	Primary B cells from cord blood	blood
20	chr3:133917800-133922800	Strong transcription	Fetal Thymus	thymus
21	chr3:133917800-133925000	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr3:133918000-133930200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:133918000-133930400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:133918400-133930400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:133919000-133929800	Weak transcription	Right Ventricle	heart
26	chr3:133919000-133950600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:133919400-133943000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:133919600-133930800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:133919800-133924800	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:133919800-133940200	Weak transcription	Esophagus	oesophagus
31	chr3:133920000-133940200	Weak transcription	Fetal Intestine Small	intestine
32	chr3:133920200-133925600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:133920200-133934000	Weak transcription	Brain Hippocampus Middle	brain
34	chr3:133920200-133938200	Weak transcription	Fetal Brain Male	brain
35	chr3:133920400-133926400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:133920400-133929800	Weak transcription	Brain Germinal Matrix	brain
37	chr3:133920400-133938600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:133920600-133923200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:133920600-133927000	Weak transcription	K562	blood
40	chr3:133920600-133929600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr3:133920600-133932000	Weak transcription	Brain Anterior Caudate	brain
42	chr3:133920600-133938400	Weak transcription	HSMMtube	muscle
43	chr3:133920600-133940600	Weak transcription	A549	lung
44	chr3:133920800-133922800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:133920800-133922800	Enhancers	HMEC	breast
46	chr3:133920800-133923600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:133920800-133927000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr3:133920800-133927200	Weak transcription	Fetal Kidney	kidney
49	chr3:133920800-133928200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr3:133920800-133929600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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