Variant report

Variant	rs10218531
Chromosome Location	chr1:151729489-151729490
allele	A/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	chr1:151729289-151729610	K562	blood:	n/a	n/a
2	POLR2A	chr1:151729356-151729680	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:151729177-151730192	K562	blood:	n/a	n/a
4	POLR2A	chr1:151729456-151729496	MCF-7	breast:	n/a	n/a
5	POLR2A	chr1:151729346-151729669	K562	blood:	n/a	n/a
6	POLR2A	chr1:151728721-151730001	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr1:151729169-151730073	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:151729355-151729508	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:151729265-151729898	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr1:151729316-151729568	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:151729348-151730085	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:151729130-151730092	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr1:151729279-151729544	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:151262059..151264776-chr1:151727556..151730221,2	K562	blood:
2	chr1:151726476..151728066-chr1:151728095..151729674,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236940	TF binding region
ENSG00000269621	Chromatin interaction
ENSG00000143373	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10888429	0.94[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10888430	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10888431	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10888432	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888433	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888434	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11204879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11204880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11204881	0.90[ASN][1000 genomes]
rs11204882	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12069106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12095851	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12143606	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs12758387	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2017850	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2096402	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs4043740	0.95[CEU][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4845339	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs4845340	0.91[EUR][1000 genomes]
rs4845542	0.99[EUR][1000 genomes]
rs61815076	0.94[EUR][1000 genomes]
rs6587615	0.85[CEU][hapmap]
rs6587617	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs6677429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692364	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696250	0.85[CEU][hapmap]
rs7414314	0.91[EUR][1000 genomes]
rs8480	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878775	0.81[CEU][hapmap]
rs939592	0.85[CEU][hapmap]

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151712800-151731800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:151721400-151730600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:151723400-151730000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:151723400-151730000	Weak transcription	HSMM	muscle
5	chr1:151723800-151730600	Weak transcription	Fetal Brain Male	brain
6	chr1:151724800-151729600	Weak transcription	Brain Germinal Matrix	brain
7	chr1:151724800-151729800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:151725400-151729600	Weak transcription	Aorta	Aorta
9	chr1:151725600-151730000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:151725600-151730600	Weak transcription	HSMMtube	muscle
11	chr1:151725800-151730000	Weak transcription	A549	lung
12	chr1:151725800-151730600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:151726000-151729600	Weak transcription	Fetal Thymus	thymus
14	chr1:151726000-151729600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:151726000-151730400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:151726000-151730600	Weak transcription	Pancreas	Pancrea
17	chr1:151726200-151729600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:151726200-151729600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:151726200-151730600	Weak transcription	Primary B cells from cord blood	blood
20	chr1:151726200-151730600	Weak transcription	Esophagus	oesophagus
21	chr1:151726200-151731600	Weak transcription	Lung	lung
22	chr1:151726200-151731800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:151726400-151730600	Weak transcription	NH-A	brain
24	chr1:151726600-151729600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:151726600-151729800	Weak transcription	GM12878-XiMat	blood
26	chr1:151726600-151730600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:151726800-151729600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:151726800-151734800	Strong transcription	Primary T cells from cord blood	blood
29	chr1:151727000-151729600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:151727000-151730000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:151727000-151730000	Weak transcription	Fetal Intestine Large	intestine
32	chr1:151727000-151730600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:151727200-151734600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr1:151727400-151734600	Strong transcription	Brain Anterior Caudate	brain
35	chr1:151727400-151734800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr1:151727400-151735400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr1:151727600-151734600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:151727600-151734600	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:151727600-151734600	Strong transcription	Thymus	Thymus
40	chr1:151727600-151735000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:151727600-151735200	Weak transcription	Right Ventricle	heart
42	chr1:151727800-151729600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:151727800-151729600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:151727800-151729600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:151727800-151730600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:151727800-151730600	Weak transcription	Fetal Heart	heart
47	chr1:151727800-151731800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:151727800-151734800	Strong transcription	Fetal Muscle Leg	muscle
49	chr1:151728000-151729600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:151728000-151730600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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