Variant report

Variant	rs2238124
Chromosome Location	chr12:12007893-12007894
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12003194..12007907-chr12:12014129..12016810,4	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17819115	0.91[CHB][hapmap]
rs2238123	0.95[ASN][1000 genomes]
rs2238129	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2416944	0.89[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs2710266	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2710269	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2723803	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2855707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2855709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6488463	1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs928936	0.91[CHB][hapmap];0.83[JPT][hapmap]

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	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11968800-12008200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:11975400-12009000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:11980800-12022600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:11983600-12008200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:11983600-12008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:11983800-12008200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:11985800-12014800	Weak transcription	Fetal Brain Female	brain
8	chr12:11987000-12013000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:11987600-12038000	Weak transcription	Hela-S3	cervix
10	chr12:11989400-12023000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:11989600-12008200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:11989800-12008200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:11992400-12008200	Weak transcription	Brain Angular Gyrus	brain
14	chr12:11992400-12008200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:11992600-12012600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:11992600-12014600	Weak transcription	NHEK	skin
17	chr12:11992600-12015600	Weak transcription	NHLF	lung
18	chr12:11992600-12015800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:11993000-12019000	Weak transcription	A549	lung
20	chr12:11993200-12008200	Weak transcription	Right Ventricle	heart
21	chr12:11993600-12014000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:11994400-12008400	Weak transcription	Right Atrium	heart
23	chr12:11994400-12009400	Weak transcription	Small Intestine	intestine
24	chr12:11994600-12008200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:11994600-12013000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:11995400-12008200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:11995600-12014000	Weak transcription	Psoas Muscle	Psoas
28	chr12:11996000-12008400	Weak transcription	Stomach Mucosa	stomach
29	chr12:11996400-12022600	Weak transcription	HSMM	muscle
30	chr12:11996600-12008200	Weak transcription	Fetal Kidney	kidney
31	chr12:12000200-12008200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:12000600-12008200	Weak transcription	Pancreas	Pancrea
33	chr12:12000800-12011800	Weak transcription	Left Ventricle	heart
34	chr12:12001800-12008200	Weak transcription	Fetal Brain Male	brain
35	chr12:12002000-12009000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:12002400-12008600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:12002400-12010200	Genic enhancers	Fetal Thymus	thymus
38	chr12:12002600-12008200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:12002800-12008200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr12:12004000-12013600	Weak transcription	HepG2	liver
41	chr12:12004600-12016600	Weak transcription	Ovary	ovary
42	chr12:12004800-12008200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:12004800-12008200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:12005000-12009600	Genic enhancers	Dnd41	blood
45	chr12:12005000-12022400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr12:12005200-12008200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:12005200-12010000	Weak transcription	Esophagus	oesophagus
48	chr12:12005200-12011400	Weak transcription	Colon Smooth Muscle	Colon
49	chr12:12005400-12008200	Weak transcription	Brain Anterior Caudate	brain
50	chr12:12005400-12008200	Weak transcription	Rectal Smooth Muscle	rectum

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