Variant report

Variant	rs7303028
Chromosome Location	chr12:42513893-42513894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1064469	0.91[MEX][hapmap]
rs10880275	0.83[GIH][hapmap]
rs10880279	0.86[GIH][hapmap]
rs1226303	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1238290	0.87[MEX][hapmap]
rs1463613	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1628871	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1683195	0.87[MEX][hapmap]
rs1683198	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1683202	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1688854	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1688879	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1688884	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1732351	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap]
rs1732352	1.00[CEU][hapmap]
rs3852592	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3990966	0.88[MEX][hapmap]
rs6582378	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap]
rs6582383	0.88[MEX][hapmap]
rs6582392	0.82[GIH][hapmap]
rs712106	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs712119	0.83[GIH][hapmap];0.87[MEX][hapmap]
rs712120	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs712123	0.87[MEX][hapmap]
rs7135851	0.88[MEX][hapmap]
rs7297464	0.88[MEX][hapmap]
rs7956016	0.83[GIH][hapmap];0.87[MEX][hapmap]
rs7959852	0.88[MEX][hapmap]
rs7960176	0.83[GIH][hapmap]
rs7964383	0.88[MEX][hapmap]
rs7971943	0.88[MEX][hapmap]
rs7975518	0.87[MEX][hapmap]
rs824697	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs824716	1.00[CEU][hapmap]
rs824722	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs824724	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs824726	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs824734	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs824736	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs824738	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs844046	1.00[CEU][hapmap]
rs865420	1.00[CEU][hapmap];0.96[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
2	chr12:42474600-42514400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:42474600-42518800	Weak transcription	Brain Anterior Caudate	brain
4	chr12:42476000-42524400	Weak transcription	Gastric	stomach
5	chr12:42476200-42524400	Weak transcription	Pancreas	Pancrea
6	chr12:42476600-42523800	Weak transcription	Hela-S3	cervix
7	chr12:42484400-42524800	Weak transcription	Right Ventricle	heart
8	chr12:42488600-42518600	Weak transcription	Fetal Brain Male	brain
9	chr12:42492200-42518600	Weak transcription	K562	blood
10	chr12:42493000-42524400	Weak transcription	Brain Substantia Nigra	brain
11	chr12:42493000-42534400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:42493200-42518400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:42493200-42519200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:42497200-42518800	Weak transcription	Psoas Muscle	Psoas
15	chr12:42499000-42516800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:42499400-42518800	Weak transcription	Fetal Kidney	kidney
17	chr12:42501000-42518800	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:42504800-42514600	Weak transcription	Spleen	Spleen
19	chr12:42505600-42516800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:42505800-42515200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:42505800-42518400	Weak transcription	Fetal Intestine Small	intestine
22	chr12:42505800-42518800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:42505800-42518800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:42505800-42518800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:42505800-42522400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:42505800-42537000	Weak transcription	Fetal Stomach	stomach
27	chr12:42505800-42537000	Weak transcription	Lung	lung
28	chr12:42507400-42515200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:42508400-42524600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:42508800-42517000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:42509600-42519400	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:42509800-42518600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:42509800-42518800	Weak transcription	Brain Germinal Matrix	brain
34	chr12:42510000-42518800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:42510800-42514000	Weak transcription	Fetal Thymus	thymus
36	chr12:42511000-42518800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:42511200-42519000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:42511600-42518800	Weak transcription	NHEK	skin
39	chr12:42511800-42518600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:42511800-42518800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:42511800-42518800	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:42511800-42518800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:42512000-42519000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:42512000-42522200	Weak transcription	HMEC	breast
45	chr12:42512000-42537400	Weak transcription	Ovary	ovary
46	chr12:42512400-42519000	Weak transcription	Primary B cells from cord blood	blood
47	chr12:42512400-42520800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:42512400-42521800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:42512400-42523800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:42512400-42523800	Weak transcription	HSMM	muscle

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