Variant report

Variant	rs2029638
Chromosome Location	chr3:111854572-111854573
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	ATF2	chr3:111854493-111856546	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:111854400-111855368	GM12892	blood:	n/a	n/a
3	CEBPB	chr3:111854430-111856554	GM12878	blood:	n/a	n/a
4	EBF1	chr3:111851012-111856368	GM12878	blood:	n/a	chr3:111852245-111852256
5	PML	chr3:111854348-111856637	GM12878	blood:	n/a	n/a
6	NFIC	chr3:111853158-111857194	GM12878	blood:	n/a	n/a
7	FOXM1	chr3:111854357-111856577	GM12878	blood:	n/a	n/a
8	POLR2A	chr3:111854468-111855235	GM12892	blood:	n/a	n/a
9	POLR2A	chr3:111846063-111856284	GM12878	blood:	n/a	n/a
10	POLR2A	chr3:111854410-111855349	GM12892	blood:	n/a	n/a
11	ATF2	chr3:111854398-111856559	GM12878	blood:	n/a	n/a
12	POLR2A	chr3:111850773-111856379	GM12878	blood:	n/a	n/a
13	EP300	chr3:111854538-111855335	GM12878	blood:	n/a	n/a
14	BCL3	chr3:111854437-111855406	GM12878	blood:	n/a	n/a
15	NFIC	chr3:111854445-111856586	GM12878	blood:	n/a	n/a
16	POLR2A	chr3:111846124-111855250	GM12878	blood:	n/a	n/a
17	MEF2A	chr3:111854545-111855365	GM12878	blood:	n/a	n/a
18	POLR2A	chr3:111843489-111856486	GM12878	blood:	n/a	n/a
19	STAT5A	chr3:111854495-111855312	GM12878	blood:	n/a	n/a
20	MTA3	chr3:111845901-111857252	GM12878	blood:	n/a	n/a
21	NFATC1	chr3:111854411-111856627	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:111847880..111850020-chr3:111853363..111855943,2	K562	blood:

Variant related genes	Relation type
GCSAM	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10511306	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10511307	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11928130	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13069933	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1388855	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1492480	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1492481	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1492483	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1492484	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1492485	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1492486	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1602672	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1948404	0.84[EUR][1000 genomes]
rs1994772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7651558	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs879652	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs950528	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111840800-111855800	Weak transcription	NH-A	brain
2	chr3:111844800-111855800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:111845600-111855800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:111848200-111857000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:111848400-111854600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:111848400-111854800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:111848400-111855800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:111848400-111856000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:111848400-111856800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:111849000-111854800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:111849200-111855000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:111851600-111854600	Enhancers	Primary hematopoietic stem cells	blood
13	chr3:111852200-111855000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr3:111852200-111855200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:111852200-111857000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:111852200-111857600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:111852200-111863400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:111852400-111854600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr3:111852400-111855200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr3:111852400-111856200	Enhancers	Fetal Thymus	thymus
21	chr3:111852400-111856200	Enhancers	Thymus	Thymus
22	chr3:111852400-111856600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr3:111852400-111856600	Flanking Active TSS	GM12878-XiMat	blood
24	chr3:111852400-111857000	Enhancers	Primary B cells from cord blood	blood
25	chr3:111852400-111857200	Enhancers	Primary B cells from peripheral blood	blood
26	chr3:111852600-111855000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr3:111852600-111856600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr3:111852600-111857600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:111852800-111856600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr3:111853000-111856200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr3:111853000-111856400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr3:111853200-111856200	Enhancers	Primary T cells from cord blood	blood
33	chr3:111853200-111857000	Enhancers	Stomach Mucosa	stomach
34	chr3:111853400-111855800	Weak transcription	Left Ventricle	heart
35	chr3:111853400-111867400	Weak transcription	Gastric	stomach
36	chr3:111853600-111856400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:111853600-111857000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr3:111853800-111854600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:111853800-111854800	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr3:111853800-111857000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:111854200-111855200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:111854200-111855600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr3:111854200-111855800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr3:111854200-111856400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr3:111854200-111856800	Weak transcription	Fetal Intestine Small	intestine
46	chr3:111854200-111857000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr3:111854400-111855200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:111854400-111855600	Weak transcription	Fetal Heart	heart

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