Variant report

Variant	rs10488443
Chromosome Location	chr7:137633386-137633387
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	NFIC	chr7:137632982-137634229	HepG2	liver:	n/a	n/a
2	MYBL2	chr7:137632916-137635018	HepG2	liver:	n/a	n/a
3	MXI1	chr7:137633168-137634150	HepG2	liver:	n/a	n/a
4	MBD4	chr7:137633113-137634153	HepG2	liver:	n/a	n/a
5	FOXA1	chr7:137633172-137633435	T-47D	breast:	n/a	chr7:137633275-137633290 chr7:137633277-137633289 chr7:137633346-137633361
6	POLR2A	chr7:137632029-137636309	K562	blood:	n/a	n/a
7	HDAC2	chr7:137633173-137634135	HepG2	liver:	n/a	chr7:137633280-137633289
8	EP300	chr7:137633076-137634089	HepG2	liver:	n/a	chr7:137633280-137633290 chr7:137633879-137633893
9	FOXA1	chr7:137633100-137634111	HepG2	liver:	n/a	chr7:137633275-137633290 chr7:137633277-137633289 chr7:137633346-137633361
10	FOXA1	chr7:137632990-137634133	HepG2	liver:	n/a	chr7:137633275-137633290 chr7:137633277-137633289 chr7:137633346-137633361
11	FOXA1	chr7:137632993-137634146	HepG2	liver:	n/a	chr7:137633275-137633290 chr7:137633277-137633289 chr7:137633346-137633361
12	FOXA2	chr7:137633090-137633483	HepG2	liver:	n/a	chr7:137633277-137633289
13	MYBL2	chr7:137633055-137634271	HepG2	liver:	n/a	n/a
14	TEAD4	chr7:137632775-137634353	HepG2	liver:	n/a	n/a
15	MAFK	chr7:137633261-137634122	HepG2	liver:	n/a	chr7:137633956-137633967 chr7:137633956-137633967 chr7:137633955-137633966
16	FOXA1	chr7:137633152-137633470	T-47D	breast:	n/a	chr7:137633275-137633290 chr7:137633277-137633289 chr7:137633346-137633361
17	EP300	chr7:137633045-137634270	HepG2	liver:	n/a	chr7:137634146-137634160 chr7:137633055-137633063 chr7:137633280-137633290 chr7:137633879-137633893
18	FOXA2	chr7:137632713-137634710	HepG2	liver:	n/a	chr7:137633277-137633289 chr7:137634442-137634454
19	ARID3A	chr7:137633213-137634734	HepG2	liver:	n/a	n/a
20	FOXA1	chr7:137632987-137634626	HepG2	liver:	n/a	chr7:137633275-137633290 chr7:137633277-137633289 chr7:137634442-137634454 chr7:137633346-137633361
21	SP1	chr7:137633054-137634180	HepG2	liver:	n/a	n/a
22	MBD4	chr7:137633068-137634184	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:137632361..137634481-chr7:137685583..137687826,2	MCF-7	breast:
2	chr7:137632387..137635016-chr7:137657299..137659566,2	MCF-7	breast:
3	chr7:137617789..137620376-chr7:137631763..137634379,2	K562	blood:
4	chr7:137632725..137635704-chr7:137642617..137645023,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237243	TF binding region
ENSG00000122787	Chromatin interaction
ENSG00000182158	Chromatin interaction

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

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

rs_ID	r²[population]
rs10224250	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.82[ASN][1000 genomes]
rs10260415	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10267160	0.91[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11970829	1.00[CHB][hapmap]
rs12533090	0.82[ASN][1000 genomes]
rs12536683	0.82[ASN][1000 genomes]
rs13228781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13240473	0.82[ASN][1000 genomes]
rs13245803	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1471436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs17169459	0.91[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17183616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs17190292	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs17190987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17275136	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs34100060	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34786382	0.82[ASN][1000 genomes]
rs34814437	0.82[ASN][1000 genomes]
rs34878104	0.82[ASN][1000 genomes]
rs34924702	0.82[ASN][1000 genomes]
rs35503163	0.82[ASN][1000 genomes]
rs35615147	0.82[ASN][1000 genomes]
rs35988674	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36086400	0.82[ASN][1000 genomes]
rs4732274	0.82[ASN][1000 genomes]
rs765857	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs7812168	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs9691292	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][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	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137615600-137635600	Weak transcription	Hela-S3	cervix
2	chr7:137618200-137637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:137621200-137638000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:137621400-137651800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr7:137621800-137633800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:137622000-137643000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:137622200-137636600	Weak transcription	Esophagus	oesophagus
8	chr7:137622200-137638200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:137622200-137643200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr7:137622400-137638400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:137624200-137633400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:137625800-137637200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:137625800-137638200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:137626000-137637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:137626000-137637000	Weak transcription	NHEK	skin
16	chr7:137626000-137646200	Weak transcription	HMEC	breast
17	chr7:137626400-137637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:137626400-137637400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:137627400-137638200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:137628200-137637800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:137628400-137635200	Weak transcription	GM12878-XiMat	blood
22	chr7:137628600-137633800	Weak transcription	Left Ventricle	heart
23	chr7:137628600-137637200	Weak transcription	Colonic Mucosa	Colon
24	chr7:137628800-137636400	Weak transcription	Ovary	ovary
25	chr7:137628800-137636600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:137628800-137638600	Weak transcription	HUVEC	blood vessel
27	chr7:137629000-137633600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:137629000-137634800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr7:137629000-137638000	Weak transcription	Adipose Nuclei	Adipose
30	chr7:137629200-137633400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr7:137629200-137633600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:137629200-137634600	Weak transcription	Primary B cells from cord blood	blood
33	chr7:137629200-137635000	Weak transcription	NHLF	lung
34	chr7:137629200-137637000	Weak transcription	Fetal Stomach	stomach
35	chr7:137629200-137638000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:137629200-137638000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:137629400-137633600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:137629400-137633600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:137629400-137633600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:137629400-137634000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr7:137629400-137636600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr7:137629400-137636800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:137629400-137637000	Weak transcription	Fetal Lung	lung
44	chr7:137629400-137637200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr7:137629400-137637200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr7:137629400-137637200	Weak transcription	HSMM	muscle
47	chr7:137629400-137637400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:137629400-137637400	Weak transcription	HSMMtube	muscle
49	chr7:137629400-137637600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:137629400-137637800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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