Variant report

Variant	rs2046543
Chromosome Location	chr2:114734486-114734487
allele	A/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	MYBL2	chr2:114734478-114738477	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:114734270-114737182	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:114734230-114734510	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:114733773-114735381	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:114734147-114737194	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:114734039-114734509	HL-60	blood:	n/a	n/a
7	MAX	chr2:114734147-114734522	NB4	blood:	n/a	n/a
8	POLR2A	chr2:114732220-114736342	GM12891	blood:	n/a	n/a
9	SPI1	chr2:114734119-114734529	HL-60	blood:	n/a	chr2:114734282-114734295
10	POLR2A	chr2:114733807-114736167	K562	blood:	n/a	n/a
11	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
ENSG00000243179	TF binding region
ENSG00000234199	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10176461	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs156667	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs156713	0.84[ASN][1000 genomes]
rs156731	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17046870	0.85[CEU][hapmap]
rs1825738	0.93[CEU][hapmap];0.81[AMR][1000 genomes]
rs275417	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs276316	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs276318	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs276819	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs276821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3748998	1.00[CEU][hapmap]
rs3912541	0.82[AMR][1000 genomes]
rs3982224	0.80[ASN][1000 genomes]
rs4341941	0.81[AMR][1000 genomes]
rs4849297	0.81[AMR][1000 genomes]
rs6542185	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs6705687	1.00[CEU][hapmap]
rs6741208	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7606387	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs904498	0.93[CEU][hapmap]
rs974057	1.00[CEU][hapmap];0.81[AMR][1000 genomes]

No data

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	chr2:114725000-114735000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:114725800-114735000	Weak transcription	Fetal Intestine Small	intestine
25	chr2:114727000-114734600	Weak transcription	Fetal Intestine Large	intestine
26	chr2:114727400-114735200	Strong transcription	Thymus	Thymus
27	chr2:114727400-114735400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:114727600-114735600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:114727600-114736400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:114727600-114736800	Weak transcription	A549	lung
31	chr2:114728000-114734600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr2:114728600-114735000	Weak transcription	NHDF-Ad	bronchial
33	chr2:114729000-114735600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:114729200-114734800	Strong transcription	Primary B cells from cord blood	blood
35	chr2:114729400-114734600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr2:114729600-114734800	Strong transcription	Primary T cells from cord blood	blood
37	chr2:114729600-114735000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:114729600-114737000	Weak transcription	Placenta	Placenta
39	chr2:114731200-114735000	Weak transcription	Brain Germinal Matrix	brain
40	chr2:114731600-114735200	Weak transcription	Fetal Kidney	kidney
41	chr2:114731600-114735200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:114731800-114734600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:114732000-114734800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:114732400-114734800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr2:114732400-114737400	Weak transcription	Lung	lung
46	chr2:114732600-114735600	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:114732800-114734800	Weak transcription	Fetal Brain Female	brain
48	chr2:114732800-114735200	Strong transcription	NHLF	lung
49	chr2:114733000-114735200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
50	chr2:114733000-114735400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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