Variant report

Variant	rs11054700
Chromosome Location	chr12:12276378-12276379
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	chr12:12266791..12269443-chr12:12274824..12276932,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10845493	0.83[AFR][1000 genomes]
rs12816278	0.83[AFR][1000 genomes]
rs4763790	0.83[AFR][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12235400-12278800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:12260800-12277000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:12261000-12276800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:12261200-12277000	Weak transcription	Hela-S3	cervix
5	chr12:12261600-12301400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:12261800-12288000	Weak transcription	Gastric	stomach
7	chr12:12262200-12277200	Weak transcription	Brain Germinal Matrix	brain
8	chr12:12262400-12277200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:12262400-12335600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:12262800-12284800	Weak transcription	Aorta	Aorta
11	chr12:12263800-12314600	Weak transcription	Esophagus	oesophagus
12	chr12:12264000-12301400	Weak transcription	Right Ventricle	heart
13	chr12:12264200-12284600	Weak transcription	Pancreas	Pancrea
14	chr12:12264400-12284800	Weak transcription	Lung	lung
15	chr12:12264400-12311400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:12264600-12276400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:12265400-12279000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:12265600-12303400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:12266800-12276400	Weak transcription	HMEC	breast
20	chr12:12267800-12282400	Weak transcription	Fetal Intestine Small	intestine
21	chr12:12267800-12301600	Weak transcription	NHLF	lung
22	chr12:12268200-12277400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:12268400-12279000	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:12268800-12276400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:12268800-12301600	Weak transcription	Brain Substantia Nigra	brain
26	chr12:12269000-12276400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:12269200-12276400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:12269200-12279600	Weak transcription	Fetal Brain Male	brain
29	chr12:12269600-12343200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:12270200-12277400	Weak transcription	HUVEC	blood vessel
31	chr12:12270400-12277600	Weak transcription	NHDF-Ad	bronchial
32	chr12:12270600-12284800	Weak transcription	Spleen	Spleen
33	chr12:12271000-12284400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:12271000-12301600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:12271200-12280600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:12271400-12281200	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:12271400-12286600	Strong transcription	Liver	Liver
38	chr12:12271400-12306600	Weak transcription	Small Intestine	intestine
39	chr12:12271600-12288400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:12271600-12294200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:12271800-12279800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:12271800-12285000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:12271800-12285600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:12271800-12286400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:12272000-12285000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr12:12272000-12286000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:12272200-12344600	Weak transcription	Primary B cells from cord blood	blood
48	chr12:12272400-12276400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:12272400-12276400	Weak transcription	Psoas Muscle	Psoas
50	chr12:12272400-12277000	Weak transcription	H9 Cell Line	embryonic stem cell

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