Variant report

Variant	rs4730799
Chromosome Location	chr7:117372998-117372999
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	RFX5	chr7:117372895-117373095	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:117370526..117372524-chr7:117372686..117375672,2	K562	blood:
2	7:115847372-115857098..7:117371344-117373403	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
CTTNBP2	TF binding region
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10226236	1.00[JPT][hapmap]
rs10226907	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10230544	1.00[JPT][hapmap]
rs10231905	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10234869	1.00[JPT][hapmap]
rs10242695	1.00[JPT][hapmap]
rs10244694	1.00[ASN][1000 genomes]
rs10247163	1.00[JPT][hapmap]
rs10249419	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10254610	1.00[JPT][hapmap]
rs10258815	1.00[JPT][hapmap]
rs10266116	0.82[CEU][hapmap]
rs10274022	1.00[JPT][hapmap]
rs10278481	0.82[CEU][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1042180	0.82[CEU][hapmap]
rs10953848	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11767185	0.95[CEU][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11768272	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11974545	0.86[ASN][1000 genomes]
rs12534210	0.86[ASN][1000 genomes]
rs12534233	0.86[ASN][1000 genomes]
rs1366912	1.00[ASN][1000 genomes]
rs1429563	1.00[ASN][1000 genomes]
rs1429568	0.82[CEU][hapmap]
rs1468262	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140297	0.81[CEU][hapmap]
rs17140352	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17452984	1.00[ASN][1000 genomes]
rs17549557	0.82[CEU][hapmap]
rs17550204	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17550567	0.86[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1800136	0.82[CEU][hapmap]
rs1966352	0.86[ASN][1000 genomes]
rs2059938	0.86[ASN][1000 genomes]
rs2079178	0.86[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs213986	0.82[CEU][hapmap]
rs214163	0.86[ASN][1000 genomes]
rs2189388	1.00[JPT][hapmap]
rs2193258	1.00[JPT][hapmap]
rs34374846	1.00[ASN][1000 genomes]
rs34541842	0.86[ASN][1000 genomes]
rs34637736	0.86[ASN][1000 genomes]
rs34665848	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35216437	0.86[ASN][1000 genomes]
rs35292549	1.00[ASN][1000 genomes]
rs35454880	0.86[ASN][1000 genomes]
rs35871198	0.86[ASN][1000 genomes]
rs35941557	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500028	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4727855	0.82[CEU][hapmap]
rs4730795	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4730797	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4730798	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4730801	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4730802	0.86[CEU][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6466618	1.00[ASN][1000 genomes]
rs6466624	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs6967118	1.00[JPT][hapmap]
rs6967714	0.92[EUR][1000 genomes]
rs6973257	0.95[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977789	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6978213	1.00[JPT][hapmap]
rs6980032	0.81[CEU][hapmap]
rs739797	0.86[CEU][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.86[ASN][1000 genomes]
rs739798	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs757278	0.86[ASN][1000 genomes]
rs7779353	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7796168	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7796211	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7804816	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs929668	1.00[JPT][hapmap]

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	nsv464695	chr7:117342771-117393516	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv608258	chr7:117342771-117393516	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117327000-117376400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:117346600-117373400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:117349600-117385000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:117350200-117373800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:117353200-117384600	Weak transcription	Ovary	ovary
6	chr7:117354600-117373800	Weak transcription	Esophagus	oesophagus
7	chr7:117354800-117417200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:117355000-117382800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:117356200-117431400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:117356800-117376000	Weak transcription	NH-A	brain
11	chr7:117357200-117374800	Weak transcription	Pancreas	Pancrea
12	chr7:117357600-117375400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:117358400-117398800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:117359200-117402600	Weak transcription	Spleen	Spleen
15	chr7:117360200-117374000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:117360600-117374800	Weak transcription	Left Ventricle	heart
17	chr7:117362600-117394000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:117363200-117401000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:117364000-117375400	Strong transcription	Fetal Brain Female	brain
20	chr7:117364200-117376600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:117365400-117373400	Weak transcription	NHLF	lung
22	chr7:117365400-117380800	Weak transcription	Fetal Brain Male	brain
23	chr7:117365600-117407000	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:117367000-117374000	Weak transcription	Brain Germinal Matrix	brain
25	chr7:117367000-117374000	Weak transcription	Lung	lung
26	chr7:117367000-117376200	Weak transcription	Gastric	stomach
27	chr7:117368200-117373600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr7:117368400-117373200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:117368400-117373800	Weak transcription	Aorta	Aorta
30	chr7:117368400-117373800	Weak transcription	Fetal Stomach	stomach
31	chr7:117369400-117373800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr7:117369600-117384000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:117369800-117373800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:117370000-117374000	Weak transcription	Brain Anterior Caudate	brain
35	chr7:117370200-117373800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:117370200-117374000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:117370400-117373800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:117370400-117374800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:117370400-117380000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:117370600-117373200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:117370600-117374200	Weak transcription	Fetal Kidney	kidney
42	chr7:117370800-117373200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:117370800-117373200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:117371000-117373200	Weak transcription	Fetal Lung	lung
45	chr7:117371200-117377200	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:117371600-117375400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:117371600-117376600	Weak transcription	Right Ventricle	heart
48	chr7:117371600-117381600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr7:117371800-117373600	Weak transcription	Brain Hippocampus Middle	brain
50	chr7:117371800-117373600	Weak transcription	Brain Inferior Temporal Lobe	brain

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