Variant report

Variant	rs1045897
Chromosome Location	chr7:129592510-129592511
allele	A/C
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	ZNF143	chr7:129592047-129593156	GM12878	blood:	n/a	chr7:129592471-129592481 chr7:129592903-129592912 chr7:129592597-129592607 chr7:129592894-129592912 chr7:129592901-129592910 chr7:129592646-129592656
2	CREB1	chr7:129591962-129593239	GM12878	blood:	n/a	chr7:129592820-129592833 chr7:129592806-129592819 chr7:129592820-129592833
3	POLR2A	chr7:129591296-129593051	H1-neurons	neurons:	n/a	n/a
4	MAX	chr7:129591997-129593015	Hela-S3	cervix:	n/a	n/a
5	YY1	chr7:129592492-129593014	GM12891	blood:	n/a	chr7:129592864-129592873 chr7:129592637-129592646 chr7:129592867-129592876 chr7:129592642-129592653
6	TAF1	chr7:129592502-129593026	SK-N-SH	brain:	n/a	n/a
7	ELF1	chr7:129591937-129593103	GM12878	blood:	n/a	chr7:129592867-129592876 chr7:129592106-129592119 chr7:129592601-129592613 chr7:129592401-129592410
8	POLR2A	chr7:129588724-129592947	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:129591982-129592966	MCF10A-Er-Src	breast:	n/a	n/a
10	TAF7	chr7:129592485-129592942	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr7:129591913-129592902	GM12878	blood:	n/a	n/a
12	MXI1	chr7:129592220-129593050	HepG2	liver:	n/a	n/a
13	POLR2A	chr7:129590069-129592952	GM12892	blood:	n/a	n/a
14	POLR2A	chr7:129592483-129592958	A549	lung:	n/a	n/a
15	CREB1	chr7:129592435-129593135	HepG2	liver:	n/a	chr7:129592820-129592833 chr7:129592806-129592819 chr7:129592820-129592833
16	REST	chr7:129592446-129593031	H1-neurons	neurons:	n/a	chr7:129592564-129592573
17	POLR2A	chr7:129592457-129592954	HEK293	kidney:	n/a	n/a
18	POLR2A	chr7:129592265-129593159	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr7:129592107-129593028	HUVEC	blood vessel:	n/a	n/a
20	ATF2	chr7:129592457-129593193	GM12878	blood:	n/a	chr7:129592819-129592833 chr7:129592805-129592819 chr7:129592807-129592818
21	POLR2A	chr7:129591943-129592985	GM18526	blood:	n/a	n/a
22	TCF7L2	chr7:129592135-129593052	HCT-116	colon:	n/a	n/a
23	MYC	chr7:129591807-129593147	K562	blood:	n/a	n/a
24	POLR2A	chr7:129588714-129592949	GM18505	blood:	n/a	n/a
25	FOXM1	chr7:129592319-129593109	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:129591948-129592958	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr7:129591953-129593105	Hela-S3	cervix:	n/a	n/a
28	E2F6	chr7:129592165-129592917	K562	blood:	n/a	chr7:129592821-129592830 chr7:129592823-129592832 chr7:129592809-129592818 chr7:129592807-129592816 chr7:129592472-129592481
29	CREB1	chr7:129592033-129593099	A549	lung:	n/a	chr7:129592820-129592833 chr7:129592806-129592819 chr7:129592820-129592833
30	POLR2A	chr7:129591420-129592970	Hela-S3	cervix:	n/a	n/a
31	PML	chr7:129592479-129592979	MCF-7	breast:	n/a	n/a
32	POLR2A	chr7:129592054-129592961	GM15510	blood:	n/a	n/a
33	TCF3	chr7:129592349-129592952	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:129592385-129593025	Gliobla	brain:	n/a	n/a
35	POLR2A	chr7:129592383-129593035	K562	blood:	n/a	n/a
36	HCFC1	chr7:129592239-129593309	K562	blood:	n/a	n/a
37	PAX5	chr7:129592135-129593005	GM12892	blood:	n/a	chr7:129592468-129592477
38	SMC3	chr7:129591987-129593053	Hela-S3	cervix:	n/a	n/a
39	SIN3AK20	chr7:129591877-129593095	PANC-1	pancreas:	n/a	n/a
40	EP300	chr7:129592035-129592985	ECC-1	luminal epithelium:	n/a	chr7:129592865-129592874 chr7:129592906-129592920 chr7:129592472-129592481
41	NFIC	chr7:129592325-129593070	GM12878	blood:	n/a	n/a
42	MTA3	chr7:129588689-129593264	GM12878	blood:	n/a	n/a
43	POLR2A	chr7:129592489-129592918	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr7:129592499-129592842	GM12891	blood:	n/a	n/a
45	POLR2A	chr7:129591992-129592903	GM12878	blood:	n/a	n/a
46	CREB1	chr7:129591965-129593205	GM12878	blood:	n/a	chr7:129592820-129592833 chr7:129592806-129592819 chr7:129592820-129592833
47	ZEB1	chr7:129592474-129592901	GM12878	blood:	n/a	n/a
48	BCLAF1	chr7:129592328-129593177	GM12878	blood:	n/a	chr7:129592637-129592650 chr7:129592881-129592890 chr7:129592605-129592618 chr7:129592464-129592477 chr7:129592869-129592878 chr7:129592866-129592875 chr7:129592636-129592645 chr7:129592866-129592879
49	POLR2A	chr7:129592307-129592993	MCF-7	breast:	n/a	n/a
50	TBL1XR1	chr7:129592457-129593125	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:99006119..99007069-chr7:129592041..129592902,2	Hela-S3	cervix:
2	chr7:129519608..129522150-chr7:129591816..129594617,2	K562	blood:
3	chr7:129589706..129593830-chr7:129648569..129652314,11	MCF-7	breast:
4	chr7:129589828..129592812-chr7:129690460..129692657,3	K562	blood:
5	chr7:129592235..129594175-chr7:129648498..129651934,4	MCF-7	breast:
6	chr7:129589344..129594008-chr7:129594437..129600591,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199516	TF binding region
ENSG00000244036	TF binding region
UBE2H	TF binding region
ENSG00000244036	Chromatin interaction
ENSG00000106245	Chromatin interaction
ENSG00000186591	Chromatin interaction
ENSG00000091732	Chromatin interaction
ENSG00000199516	Chromatin interaction
ENSG00000106244	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1723728	0.89[ASN][1000 genomes]
rs2140874	0.82[ASN][1000 genomes]
rs2692447	0.81[ASN][1000 genomes]
rs2692449	0.81[ASN][1000 genomes]
rs2708635	0.81[ASN][1000 genomes]
rs2708639	0.81[ASN][1000 genomes]
rs2708644	0.81[ASN][1000 genomes]
rs2727509	0.81[ASN][1000 genomes]
rs2727511	0.81[ASN][1000 genomes]
rs34438031	0.94[ASN][1000 genomes]
rs34463221	0.94[ASN][1000 genomes]
rs34629832	0.94[ASN][1000 genomes]
rs35182759	0.94[ASN][1000 genomes]
rs35793528	0.94[ASN][1000 genomes]
rs6955829	0.81[ASN][1000 genomes]
rs6963861	0.85[YRI][hapmap]
rs73473720	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129588400-129593000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr7:129588600-129593000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:129588600-129593000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:129588600-129593000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:129588600-129593000	Active TSS	Esophagus	oesophagus
6	chr7:129588800-129592800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:129588800-129592800	Active TSS	Aorta	Aorta
8	chr7:129588800-129592800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr7:129588800-129593000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:129588800-129593000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr7:129588800-129593000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:129588800-129593000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr7:129588800-129593200	Active TSS	Fetal Brain Female	brain
14	chr7:129589000-129592800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:129589000-129592800	Active TSS	Ovary	ovary
16	chr7:129589000-129593000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:129589000-129593000	Active TSS	Fetal Muscle Trunk	muscle
18	chr7:129589200-129592800	Active TSS	Pancreas	Pancrea
19	chr7:129589200-129592800	Active TSS	Psoas Muscle	Psoas
20	chr7:129589200-129593000	Active TSS	H1 Cell Line	embryonic stem cell
21	chr7:129589200-129593000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:129589200-129593000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:129589200-129593000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:129589200-129593000	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr7:129589400-129592800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:129589400-129592800	Active TSS	Placenta Amnion	Placenta Amnion
27	chr7:129589400-129593000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr7:129589400-129593000	Active TSS	Brain Germinal Matrix	brain
29	chr7:129589400-129593200	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr7:129589600-129592800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr7:129589600-129592800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:129589600-129592800	Active TSS	GM12878-XiMat	blood
33	chr7:129589600-129592800	Active TSS	HSMMtube	muscle
34	chr7:129589600-129593000	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr7:129589600-129593000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:129589800-129592800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:129589800-129592800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:129589800-129592800	Active TSS	Left Ventricle	heart
39	chr7:129589800-129592800	Active TSS	Right Atrium	heart
40	chr7:129589800-129593000	Active TSS	Brain Cingulate Gyrus	brain
41	chr7:129589800-129593000	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr7:129589800-129593000	Active TSS	Fetal Stomach	stomach
43	chr7:129589800-129593000	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr7:129589800-129593000	Active TSS	Thymus	Thymus
45	chr7:129589800-129593000	Active TSS	HSMM	muscle
46	chr7:129590000-129592800	Active TSS	Fetal Kidney	kidney
47	chr7:129590000-129593000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:129590000-129593000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:129590000-129593000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:129590000-129593000	Active TSS	Duodenum Smooth Muscle	Duodenum

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