Variant report

Variant	rs57336895
Chromosome Location	chr12:120292208-120292209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11064878	0.87[EUR][1000 genomes]
rs11064902	0.87[EUR][1000 genomes]
rs11064926	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064929	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064930	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064931	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064933	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064934	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064935	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064936	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064937	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064938	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064939	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064940	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064941	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064942	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064944	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3742046	0.87[EUR][1000 genomes]
rs55680945	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57617020	0.87[EUR][1000 genomes]
rs58261374	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58974044	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59467668	0.84[AFR][1000 genomes]
rs59953935	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60782728	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7966776	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7971089	0.87[EUR][1000 genomes];0.90[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	nsv455727	chr12:120259679-120420670	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv560397	chr12:120259679-120420670	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120209400-120293600	Weak transcription	Primary T cells from cord blood	blood
2	chr12:120223000-120314400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:120242600-120293800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:120242600-120294400	Weak transcription	Fetal Kidney	kidney
5	chr12:120254800-120314600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:120256600-120304000	Weak transcription	Fetal Heart	heart
7	chr12:120259200-120311800	Strong transcription	Dnd41	blood
8	chr12:120265200-120301800	Weak transcription	Osteobl	bone
9	chr12:120270400-120314200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:120272000-120303600	Weak transcription	Fetal Lung	lung
11	chr12:120272200-120306800	Weak transcription	HSMM	muscle
12	chr12:120273200-120309000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:120274800-120306200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:120276000-120307000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:120276200-120298600	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:120276200-120300600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:120276600-120297400	Strong transcription	Thymus	Thymus
18	chr12:120277000-120307200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:120277000-120314400	Weak transcription	Spleen	Spleen
20	chr12:120277200-120314600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:120277600-120303800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:120278400-120313800	Weak transcription	Brain Germinal Matrix	brain
23	chr12:120278600-120313800	Weak transcription	Fetal Brain Female	brain
24	chr12:120279400-120301600	Weak transcription	Fetal Intestine Small	intestine
25	chr12:120279600-120303800	Weak transcription	Fetal Intestine Large	intestine
26	chr12:120279800-120314200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:120279800-120314400	Weak transcription	Primary B cells from cord blood	blood
28	chr12:120280200-120304400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:120281200-120304400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:120281400-120306400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:120285800-120298000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:120286000-120314400	Weak transcription	Placenta	Placenta
33	chr12:120286200-120294000	Weak transcription	HUVEC	blood vessel
34	chr12:120286200-120305600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr12:120286400-120303600	Weak transcription	NH-A	brain
36	chr12:120286600-120293400	Weak transcription	NHEK	skin
37	chr12:120286600-120307000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:120287200-120293400	Weak transcription	Fetal Muscle Leg	muscle
39	chr12:120287200-120301800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:120289000-120293200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr12:120289000-120294400	Weak transcription	NHDF-Ad	bronchial
42	chr12:120289000-120294600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:120289200-120294600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:120289400-120293400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:120289400-120305200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr12:120289400-120305600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:120289400-120307600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:120289600-120292800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:120289600-120292800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:120289600-120293400	Weak transcription	A549	lung

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