Variant report

Variant	rs11613623
Chromosome Location	chr12:42497013-42497014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42488035..42489890-chr12:42495880..42498709,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11610892	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11611399	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12812537	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12813181	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819127	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12819341	0.89[AMR][1000 genomes]
rs12823639	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12824122	0.82[AMR][1000 genomes]
rs12824857	1.00[EUR][1000 genomes]
rs1492364	0.80[EUR][1000 genomes]
rs17224170	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs17224177	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1872444	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34064806	0.82[AMR][1000 genomes]
rs34152211	0.96[EUR][1000 genomes]
rs34329231	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34331898	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34619605	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34669984	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34827386	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34842994	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35644702	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35682620	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35986152	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3990974	0.90[AMR][1000 genomes]
rs4264206	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs56142563	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58891308	0.93[AMR][1000 genomes]
rs61279714	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67420641	0.91[EUR][1000 genomes]
rs67788023	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68185827	0.89[AMR][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	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
2	nsv1047830	chr12:42466192-42497603	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42471000-42504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
3	chr12:42474600-42514400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:42474600-42518800	Weak transcription	Brain Anterior Caudate	brain
5	chr12:42476000-42524400	Weak transcription	Gastric	stomach
6	chr12:42476200-42524400	Weak transcription	Pancreas	Pancrea
7	chr12:42476600-42523800	Weak transcription	Hela-S3	cervix
8	chr12:42478000-42505000	Weak transcription	Lung	lung
9	chr12:42478600-42511600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:42479600-42505400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:42480200-42505600	Weak transcription	Fetal Lung	lung
12	chr12:42480200-42512000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:42480600-42504600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:42483000-42502800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:42483200-42499200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:42483600-42511400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:42484200-42504000	Weak transcription	Placenta	Placenta
18	chr12:42484400-42524800	Weak transcription	Right Ventricle	heart
19	chr12:42484600-42498800	Weak transcription	Fetal Kidney	kidney
20	chr12:42484800-42497400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:42485000-42504000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:42485200-42511600	Weak transcription	NHDF-Ad	bronchial
23	chr12:42485600-42498400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:42485800-42501400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:42485800-42512200	Weak transcription	Brain Angular Gyrus	brain
26	chr12:42486000-42513000	Weak transcription	Aorta	Aorta
27	chr12:42488200-42505400	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:42488400-42504400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:42488400-42504400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:42488400-42504800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:42488400-42504800	Weak transcription	Fetal Intestine Small	intestine
32	chr12:42488400-42505000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:42488400-42512000	Weak transcription	Osteobl	bone
34	chr12:42488600-42505000	Weak transcription	Fetal Stomach	stomach
35	chr12:42488600-42518600	Weak transcription	Fetal Brain Male	brain
36	chr12:42488800-42511800	Weak transcription	HepG2	liver
37	chr12:42490800-42506600	Weak transcription	NH-A	brain
38	chr12:42490800-42511200	Weak transcription	HSMM	muscle
39	chr12:42491200-42499200	Weak transcription	Liver	Liver
40	chr12:42491400-42497200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:42491400-42498200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:42491400-42504800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr12:42491400-42511200	Weak transcription	A549	lung
44	chr12:42491800-42499800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:42492000-42498400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:42492000-42504400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:42492200-42501200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:42492200-42501600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr12:42492200-42505000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:42492200-42505000	Weak transcription	Ovary	ovary

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