Variant report

Variant	rs6533244
Chromosome Location	chr4:107176618-107176619
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	POLR2A	chr4:107176441-107176693	MCF-7	breast:	n/a	n/a
2	POLR2A	chr4:107176459-107176723	MCF-7	breast:	n/a	n/a
3	MYC	chr4:107176433-107176700	MCF-7	breast:	n/a	n/a
4	POLR2A	chr4:107176539-107176623	Gliobla	brain:	n/a	n/a
5	POLR2A	chr4:107176452-107176697	A549	lung:	n/a	n/a
6	CTCF	chr4:107176541-107176629	GM19239	blood:	n/a	n/a

Variant related genes	Relation type
TBCK	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10004034	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10017707	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10025668	0.83[ASN][1000 genomes]
rs10155346	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10516530	1.00[CHB][hapmap];0.84[JPT][hapmap];0.98[ASN][1000 genomes]
rs10516531	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11097923	1.00[ASN][1000 genomes]
rs1134648	1.00[CHB][hapmap];0.84[JPT][hapmap];0.95[ASN][1000 genomes]
rs11936196	0.90[ASN][1000 genomes]
rs11938792	1.00[ASN][1000 genomes]
rs12508029	0.96[ASN][1000 genomes]
rs12512475	1.00[CEU][hapmap];0.88[JPT][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17036581	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1988966	0.90[ASN][1000 genomes]
rs2212969	0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2691805	0.95[ASN][1000 genomes]
rs2691806	0.95[ASN][1000 genomes]
rs2728176	0.95[ASN][1000 genomes]
rs2728177	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28418378	0.83[ASN][1000 genomes]
rs28600991	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2949626	0.94[ASN][1000 genomes]
rs2949649	0.88[ASN][1000 genomes]
rs2949651	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3018057	0.88[ASN][1000 genomes]
rs3018059	0.94[ASN][1000 genomes]
rs3018067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3109950	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3109951	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3109952	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3109954	1.00[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3109956	0.95[ASN][1000 genomes]
rs3109959	1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs3113246	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3113251	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3133167	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3133172	0.95[ASN][1000 genomes]
rs3133173	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs34305991	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34909190	0.91[ASN][1000 genomes]
rs34923623	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4415033	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4441824	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4516801	1.00[CEU][hapmap]
rs4533833	0.91[ASN][1000 genomes]
rs4560491	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4582218	0.99[ASN][1000 genomes]
rs57983950	0.99[ASN][1000 genomes]
rs6533241	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6836796	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6848855	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6853347	0.90[ASN][1000 genomes]
rs72960673	0.85[ASN][1000 genomes]
rs7442226	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669347	0.84[ASN][1000 genomes]
rs7677394	1.00[CHB][hapmap];0.84[JPT][hapmap];0.99[ASN][1000 genomes]
rs7680756	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694217	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[ASN][1000 genomes]
rs9884121	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9991203	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs9993259	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879704	chr4:107095901-107212966	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107114600-107236000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:107116800-107193800	Weak transcription	Small Intestine	intestine
3	chr4:107130000-107181200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:107141600-107214800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:107142400-107195800	Weak transcription	Psoas Muscle	Psoas
6	chr4:107144800-107179600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:107145800-107177400	Weak transcription	Colonic Mucosa	Colon
8	chr4:107148200-107179600	Weak transcription	NH-A	brain
9	chr4:107151600-107179200	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:107152200-107176800	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:107153800-107184200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr4:107155200-107185400	Weak transcription	Stomach Mucosa	stomach
13	chr4:107155400-107178400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr4:107155600-107236000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:107156000-107180600	Weak transcription	Brain Angular Gyrus	brain
16	chr4:107157200-107203000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:107166400-107185200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:107166800-107185400	Weak transcription	K562	blood
19	chr4:107167200-107191800	Weak transcription	HUVEC	blood vessel
20	chr4:107167800-107177000	Strong transcription	HSMM	muscle
21	chr4:107168600-107176800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:107169400-107185200	Weak transcription	NHEK	skin
23	chr4:107170800-107176800	Weak transcription	Dnd41	blood
24	chr4:107170800-107176800	Weak transcription	HSMMtube	muscle
25	chr4:107170800-107177400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:107170800-107179200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:107170800-107179200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:107170800-107179400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr4:107170800-107182600	Weak transcription	Fetal Brain Male	brain
30	chr4:107170800-107208200	Weak transcription	Fetal Kidney	kidney
31	chr4:107171400-107179000	Weak transcription	Osteobl	bone
32	chr4:107171800-107179600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:107172000-107177400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:107172000-107178600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:107172000-107178600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr4:107172000-107185400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:107172200-107185400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:107172200-107194800	Weak transcription	Fetal Lung	lung
39	chr4:107172800-107178800	Weak transcription	NHDF-Ad	bronchial
40	chr4:107174200-107177800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:107174600-107177400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:107174600-107178000	Genic enhancers	HepG2	liver
43	chr4:107174800-107176800	Strong transcription	Brain Substantia Nigra	brain
44	chr4:107174800-107181600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:107174800-107185000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr4:107175000-107177800	Strong transcription	Liver	Liver
47	chr4:107175200-107177600	Strong transcription	Primary T cells from cord blood	blood
48	chr4:107175200-107177600	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:107175400-107180400	Weak transcription	Primary B cells from cord blood	blood
50	chr4:107175800-107177200	Strong transcription	Brain Germinal Matrix	brain

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