Variant report

Variant	rs7151628
Chromosome Location	chr14:65003747-65003748
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	FOS	chr14:65003636-65003798	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr14:65003387-65003912	A549	lung:	n/a	chr14:65003702-65003713
3	CEBPB	chr14:65003668-65003902	H1-hESC	embryonic stem cell:	n/a	chr14:65003702-65003713
4	MYC	chr14:65003553-65003859	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr14:65003593-65003944	Hela-S3	cervix:	n/a	chr14:65003702-65003713
6	CEBPB	chr14:65003608-65003918	HepG2	liver:	n/a	chr14:65003702-65003713
7	CEBPB	chr14:65003134-65004052	A549	lung:	n/a	chr14:65003702-65003713
8	TCF12	chr14:65003123-65004064	A549	lung:	n/a	n/a
9	POLR2A	chr14:65003602-65003825	MCF10A-Er-Src	breast:	n/a	n/a
10	SP1	chr14:65003115-65004006	A549	lung:	n/a	n/a
11	TEAD4	chr14:65003292-65004009	HepG2	liver:	n/a	n/a
12	E2F4	chr14:65003631-65003751	MCF10A-Er-Src	breast:	n/a	n/a
13	CEBPB	chr14:65003586-65003980	A549	lung:	n/a	chr14:65003702-65003713
14	CEBPB	chr14:65003352-65003950	IMR90	lung:	n/a	chr14:65003702-65003713

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64969536..64972010-chr14:65003528..65005468,3	MCF-7	breast:
2	chr14:64967941..64976890-chr14:65001097..65012463,31	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259160	TF binding region
HSPA2	TF binding region
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10143672	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10143906	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1063391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848114	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12432891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256146	0.85[CHB][hapmap]
rs1256148	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12589307	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs12889677	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1542312	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038272	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2045022	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2100362	0.96[CEU][hapmap]
rs2123461	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs2123463	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2167765	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2218994	0.85[CHB][hapmap]
rs35790370	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4313734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151976	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154937	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8006695	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8011038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8018735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020083	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8020783	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8022447	0.85[CHB][hapmap]

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	esv3390097	chr14:65002586-65009255	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64974800-65006000	Weak transcription	Ovary	ovary
2	chr14:64976000-65006000	Weak transcription	Brain Germinal Matrix	brain
3	chr14:64978200-65006000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:64979200-65005800	Weak transcription	Brain Anterior Caudate	brain
5	chr14:64982000-65005800	Weak transcription	Fetal Heart	heart
6	chr14:64987800-65005000	Weak transcription	Pancreas	Pancrea
7	chr14:64989200-65006000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:64989800-65005800	Weak transcription	Right Ventricle	heart
9	chr14:64990200-65005800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:64990200-65005800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:64990200-65005800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:64990200-65006000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:64990200-65006000	Weak transcription	Aorta	Aorta
14	chr14:64990200-65006000	Weak transcription	Fetal Muscle Leg	muscle
15	chr14:64990200-65006000	Weak transcription	Left Ventricle	heart
16	chr14:64990200-65006200	Weak transcription	Small Intestine	intestine
17	chr14:64990400-65005800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:64990400-65005800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:64990400-65005800	Weak transcription	Adipose Nuclei	Adipose
20	chr14:64990400-65005800	Weak transcription	Fetal Kidney	kidney
21	chr14:64990400-65005800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:64990400-65005800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:64990400-65006000	Weak transcription	Fetal Intestine Large	intestine
24	chr14:64990600-65005800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr14:64990800-65005800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:64991000-65005600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr14:64991000-65005600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr14:64992000-65005800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr14:64992200-65005800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:64993400-65005800	Weak transcription	NH-A	brain
31	chr14:64993400-65005800	Weak transcription	NHEK	skin
32	chr14:64993600-65006000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr14:64993800-65005400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:64993800-65005600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr14:64993800-65005800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:64993800-65005800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:64993800-65005800	Weak transcription	Fetal Intestine Small	intestine
38	chr14:64993800-65005800	Weak transcription	GM12878-XiMat	blood
39	chr14:64993800-65006000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:64993800-65006000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:64995400-65005600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:64995800-65005600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr14:64996400-65005800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:64996400-65006000	Weak transcription	Fetal Lung	lung
45	chr14:64996400-65006200	Weak transcription	HSMM	muscle
46	chr14:64996600-65006200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:64998400-65005600	Weak transcription	HUVEC	blood vessel
48	chr14:65002600-65005800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:65003000-65003800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:65003000-65004000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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