Variant report

Variant	rs11714608
Chromosome Location	chr3:56662215-56662216
allele	C/T
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	chr3:56661920-56662484	U87	brain:	n/a	n/a
2	POLR2A	chr3:56662179-56662362	K562	blood:	n/a	n/a
3	POLR2A	chr3:56661995-56662323	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr3:56648967-56664047	K562	blood:	n/a	n/a
5	POLR2A	chr3:56660792-56662496	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr3:56662064-56662301	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:56661482-56662263	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:56589716..56592620-chr3:56662133..56663652,2	K562	blood:
2	chr3:56588808..56592620-chr3:56662133..56663692,3	K562	blood:

Variant related genes	Relation type
FAM208A	TF binding region
ENSG00000180376	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10212341	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1045926	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10865999	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10866000	0.81[AMR][1000 genomes]
rs11130536	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11130538	0.82[AMR][1000 genomes]
rs11714897	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715395	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11921326	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12490749	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17216740	0.84[AMR][1000 genomes]
rs2004199	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2029464	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2291499	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2291501	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2317133	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2317245	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3732512	0.85[AMR][1000 genomes]
rs4681963	0.82[AMR][1000 genomes]
rs57800049	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6445805	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6445806	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6774323	0.82[AMR][1000 genomes]
rs6802051	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7612599	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7629559	0.80[AMR][1000 genomes]
rs7646924	0.84[ASN][1000 genomes]
rs9823108	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9827472	0.86[ASN][1000 genomes]
rs9840528	0.82[AMR][1000 genomes]
rs9845096	0.84[AMR][1000 genomes]
rs9845655	0.81[AMR][1000 genomes]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56640800-56664200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr3:56640800-56695400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:56642800-56713400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:56644200-56664000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:56644400-56686400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:56644600-56665600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:56644600-56668600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:56644800-56669800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:56644800-56708200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr3:56645400-56667200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:56645400-56705200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:56645600-56664800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:56645600-56665800	Strong transcription	Hela-S3	cervix
14	chr3:56645800-56663800	Strong transcription	HSMM	muscle
15	chr3:56646000-56662800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:56646600-56669000	Weak transcription	Small Intestine	intestine
17	chr3:56646800-56673600	Weak transcription	Right Ventricle	heart
18	chr3:56647000-56663000	Strong transcription	Liver	Liver
19	chr3:56647000-56664000	Strong transcription	Adipose Nuclei	Adipose
20	chr3:56647000-56666800	Weak transcription	Lung	lung
21	chr3:56647000-56672200	Weak transcription	Gastric	stomach
22	chr3:56647200-56662600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:56647200-56664000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr3:56647200-56664000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr3:56647400-56663800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr3:56647400-56664000	Strong transcription	Primary T cells from cord blood	blood
27	chr3:56647400-56664200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:56647400-56664400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:56647400-56707400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr3:56647400-56707800	Strong transcription	Fetal Thymus	thymus
31	chr3:56647600-56662400	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:56647600-56663400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:56647600-56663600	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr3:56647600-56664200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:56647800-56668400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:56648000-56662800	Weak transcription	Pancreas	Pancrea
37	chr3:56648800-56663400	Weak transcription	Aorta	Aorta
38	chr3:56649000-56664000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr3:56649800-56662600	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:56649800-56664200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:56650000-56664000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr3:56650200-56664000	Strong transcription	Primary hematopoietic stem cells	blood
43	chr3:56650200-56664000	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr3:56650600-56664000	Strong transcription	Dnd41	blood
45	chr3:56651000-56663600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr3:56651000-56663600	Strong transcription	Placenta	Placenta
47	chr3:56651400-56702000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr3:56651600-56663800	Strong transcription	Primary B cells from cord blood	blood
49	chr3:56652200-56662400	Strong transcription	Brain Germinal Matrix	brain
50	chr3:56652800-56701400	Weak transcription	Psoas Muscle	Psoas

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