Variant report

Variant	rs10010118
Chromosome Location	chr4:79176094-79176095
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	chr4:79176065-79176617	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr4:79176000-79176631	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
FRAS1	TF binding region

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10008653	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10015504	0.96[ASN][1000 genomes]
rs10023308	0.94[ASN][1000 genomes]
rs10023311	0.94[ASN][1000 genomes]
rs10023496	0.94[ASN][1000 genomes]
rs10027981	0.99[ASN][1000 genomes]
rs10028695	0.95[ASN][1000 genomes]
rs1017649	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10223012	0.94[EUR][1000 genomes]
rs10461146	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11730296	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11736213	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12500443	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12501798	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12502139	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12502685	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12502886	0.97[ASN][1000 genomes]
rs12504081	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12506036	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12506989	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12510741	1.00[ASN][1000 genomes]
rs12511033	0.95[ASN][1000 genomes]
rs12511360	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12511808	0.86[EUR][1000 genomes]
rs13107378	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13108102	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13117388	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13136648	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13138795	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1378239	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1454892	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1454897	0.84[ASN][1000 genomes]
rs1454898	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1454899	0.95[EUR][1000 genomes]
rs1484344	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17455826	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1840391	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1840392	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1952399	0.98[ASN][1000 genomes]
rs1958276	0.94[ASN][1000 genomes]
rs2008786	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2124143	0.89[EUR][1000 genomes]
rs2124144	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2168203	0.97[ASN][1000 genomes]
rs2198635	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28493765	0.99[ASN][1000 genomes]
rs2867012	0.99[ASN][1000 genomes]
rs28679752	0.94[ASN][1000 genomes]
rs28737438	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34321445	0.88[EUR][1000 genomes]
rs34398622	0.97[ASN][1000 genomes]
rs34535077	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs345502	0.88[ASN][1000 genomes]
rs345507	0.95[ASN][1000 genomes]
rs34595864	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35290872	0.94[EUR][1000 genomes]
rs35291597	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35419939	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35683023	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35828300	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs385693	0.94[ASN][1000 genomes]
rs4241623	0.94[ASN][1000 genomes]
rs4859524	0.92[ASN][1000 genomes]
rs4859918	0.97[ASN][1000 genomes]
rs4859920	0.97[ASN][1000 genomes]
rs4859923	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859924	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58101131	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62309861	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62310017	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62310021	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62310023	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62310045	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6533565	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6533571	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6815945	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6833721	0.95[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs6854043	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6854207	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6856362	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7656032	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7681247	0.84[EUR][1000 genomes]
rs7686297	0.86[EUR][1000 genomes]
rs7694740	0.97[ASN][1000 genomes]
rs7696792	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7697230	0.88[ASN][1000 genomes]
rs7698625	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9307359	0.94[EUR][1000 genomes]
rs943821	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs943822	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9762380	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9994502	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv829978	chr4:79144453-79291868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79144600-79179000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:79169200-79186200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:79169200-79187400	Weak transcription	HSMMtube	muscle
4	chr4:79169600-79187800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:79169800-79197400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:79169800-79213800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:79170400-79186000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:79170600-79176200	Weak transcription	Fetal Heart	heart
9	chr4:79173600-79177800	Strong transcription	HepG2	liver
10	chr4:79173800-79186200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:79173800-79187000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:79173800-79187400	Weak transcription	Fetal Stomach	stomach
13	chr4:79174200-79178000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:79174600-79178400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:79174600-79186000	Weak transcription	Fetal Lung	lung
16	chr4:79174600-79197400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:79174800-79177400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:79174800-79178600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:79174800-79214400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:79175000-79177000	Weak transcription	Fetal Brain Female	brain
21	chr4:79175000-79179000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:79175000-79179200	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr4:79175000-79179800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:79175000-79187600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:79175000-79188000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:79175200-79176600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:79175200-79185800	Weak transcription	Fetal Kidney	kidney
28	chr4:79175400-79179000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:79175400-79179200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr4:79175400-79179200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:79175600-79176600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:79175600-79176600	Strong transcription	Fetal Intestine Large	intestine
33	chr4:79175800-79176600	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr4:79175800-79177400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:79176000-79176200	ZNF genes & repeats	Esophagus	oesophagus
36	chr4:79176000-79176400	Strong transcription	Left Ventricle	heart
37	chr4:79176000-79176400	Enhancers	Psoas Muscle	Psoas
38	chr4:79176000-79176600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:79176000-79176600	Strong transcription	Fetal Intestine Small	intestine
40	chr4:79176000-79176600	Strong transcription	Pancreas	Pancrea

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