Variant report

Variant	rs12996253
Chromosome Location	chr2:114734310-114734311
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:114734270-114737182	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:114734230-114734510	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:114733773-114735381	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:114734193-114734322	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr2:114734172-114734371	A549	lung:	n/a	n/a
6	POLR2A	chr2:114734147-114737194	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:114734039-114734509	HL-60	blood:	n/a	n/a
8	MAX	chr2:114734147-114734522	NB4	blood:	n/a	n/a
9	POLR2A	chr2:114732220-114736342	GM12891	blood:	n/a	n/a
10	SPI1	chr2:114734119-114734529	HL-60	blood:	n/a	chr2:114734282-114734295
11	POLR2A	chr2:114733807-114736167	K562	blood:	n/a	n/a
12	SPI1	chr2:114734028-114734497	HL-60	blood:	n/a	chr2:114734282-114734295

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114727885..114731158-chr2:114732543..114736928,5	K562	blood:

Variant related genes	Relation type
ENSG00000234199	TF binding region
ENSG00000243179	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10177100	0.89[EUR][1000 genomes]
rs1028246	0.81[TSI][hapmap]
rs12994293	0.89[EUR][1000 genomes]
rs13006901	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs13009390	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs13388080	0.83[EUR][1000 genomes]
rs17045956	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs6717890	0.89[EUR][1000 genomes]
rs9308688	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs9677951	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12996253	LOC440900	cis	multi-tissue	Pritchard

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114653600-114734800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:114668400-114735000	Weak transcription	Stomach Mucosa	stomach
3	chr2:114705200-114736000	Weak transcription	Gastric	stomach
4	chr2:114705200-114737600	Weak transcription	Esophagus	oesophagus
5	chr2:114710400-114735800	Weak transcription	Colonic Mucosa	Colon
6	chr2:114711200-114735400	Weak transcription	Fetal Lung	lung
7	chr2:114711800-114735400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:114713800-114734600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:114713800-114735200	Weak transcription	Ovary	ovary
10	chr2:114713800-114736200	Weak transcription	Fetal Stomach	stomach
11	chr2:114714400-114735200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:114715000-114744000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:114715200-114735600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:114715600-114734800	Weak transcription	Left Ventricle	heart
15	chr2:114715600-114735400	Weak transcription	K562	blood
16	chr2:114715600-114737000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:114718600-114735400	Weak transcription	Adipose Nuclei	Adipose
18	chr2:114718800-114743200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:114721200-114735800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:114724200-114735000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:114724200-114735200	Weak transcription	Brain Substantia Nigra	brain
22	chr2:114724600-114735000	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:114724800-114734400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:114725000-114735000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:114725200-114734400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:114725800-114735000	Weak transcription	Fetal Intestine Small	intestine
27	chr2:114727000-114734600	Weak transcription	Fetal Intestine Large	intestine
28	chr2:114727400-114735200	Strong transcription	Thymus	Thymus
29	chr2:114727400-114735400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:114727600-114735600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:114727600-114736400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:114727600-114736800	Weak transcription	A549	lung
33	chr2:114728000-114734600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr2:114728600-114735000	Weak transcription	NHDF-Ad	bronchial
35	chr2:114729000-114735600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:114729200-114734400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:114729200-114734800	Strong transcription	Primary B cells from cord blood	blood
38	chr2:114729400-114734400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:114729400-114734600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:114729600-114734800	Strong transcription	Primary T cells from cord blood	blood
41	chr2:114729600-114735000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:114729600-114737000	Weak transcription	Placenta	Placenta
43	chr2:114731200-114735000	Weak transcription	Brain Germinal Matrix	brain
44	chr2:114731600-114735200	Weak transcription	Fetal Kidney	kidney
45	chr2:114731600-114735200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:114731800-114734600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:114732000-114734800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:114732400-114734800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr2:114732400-114737400	Weak transcription	Lung	lung
50	chr2:114732600-114735600	Weak transcription	Fetal Muscle Leg	muscle

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