Variant report

Variant	rs7694740
Chromosome Location	chr4:79187900-79187901
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79153666..79155870-chr4:79187424..79190153,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10008653	0.83[ASN][1000 genomes]
rs10010118	0.97[ASN][1000 genomes]
rs10011303	0.82[AMR][1000 genomes]
rs10015504	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10020592	0.83[AMR][1000 genomes]
rs10023308	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10023311	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10023496	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10027981	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10028695	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1017649	0.83[ASN][1000 genomes]
rs10461146	0.84[ASN][1000 genomes]
rs10518197	0.81[EUR][1000 genomes]
rs11725497	0.83[EUR][1000 genomes]
rs11730296	0.96[ASN][1000 genomes]
rs11736213	0.99[ASN][1000 genomes]
rs11941469	0.82[EUR][1000 genomes]
rs12499728	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12501798	0.84[ASN][1000 genomes]
rs12502139	0.85[ASN][1000 genomes]
rs12502685	0.83[ASN][1000 genomes]
rs12502886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504081	0.83[ASN][1000 genomes]
rs12506036	0.80[ASN][1000 genomes]
rs12506989	0.88[ASN][1000 genomes]
rs12510741	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12511033	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12511360	0.84[ASN][1000 genomes]
rs13107378	0.84[ASN][1000 genomes]
rs13108102	0.82[ASN][1000 genomes]
rs13115668	0.83[EUR][1000 genomes]
rs13117388	0.82[ASN][1000 genomes]
rs13136648	0.83[ASN][1000 genomes]
rs13138795	0.83[ASN][1000 genomes]
rs1378239	0.99[ASN][1000 genomes]
rs1454892	0.83[ASN][1000 genomes]
rs1454896	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1454897	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1454898	0.84[ASN][1000 genomes]
rs1470989	0.81[EUR][1000 genomes]
rs1484344	0.83[ASN][1000 genomes]
rs17455826	0.84[ASN][1000 genomes]
rs1840391	0.85[ASN][1000 genomes]
rs1840392	0.85[ASN][1000 genomes]
rs1869646	0.84[AMR][1000 genomes]
rs1952399	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1958276	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2008786	0.99[ASN][1000 genomes]
rs2124143	0.80[ASN][1000 genomes]
rs2124146	0.81[EUR][1000 genomes]
rs2168203	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2198635	0.85[ASN][1000 genomes]
rs28493765	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2867011	0.81[EUR][1000 genomes]
rs2867012	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28679752	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28737438	0.83[ASN][1000 genomes]
rs34321445	0.81[ASN][1000 genomes]
rs34398622	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34535077	0.80[ASN][1000 genomes]
rs345502	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs345507	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34595864	0.85[ASN][1000 genomes]
rs35290872	0.80[ASN][1000 genomes]
rs35291597	0.85[ASN][1000 genomes]
rs35419939	0.83[ASN][1000 genomes]
rs35683023	0.99[ASN][1000 genomes]
rs35828300	0.84[ASN][1000 genomes]
rs385693	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4241623	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859524	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859918	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859920	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859923	0.98[ASN][1000 genomes]
rs4859924	0.98[ASN][1000 genomes]
rs58101131	0.84[ASN][1000 genomes]
rs62309861	0.82[ASN][1000 genomes]
rs62310017	0.85[ASN][1000 genomes]
rs62310023	0.84[ASN][1000 genomes]
rs62310045	0.84[ASN][1000 genomes]
rs6533565	1.00[ASN][1000 genomes]
rs6533571	0.98[ASN][1000 genomes]
rs6815945	0.83[ASN][1000 genomes]
rs6833721	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6854043	0.97[ASN][1000 genomes]
rs6854207	0.82[ASN][1000 genomes]
rs6856362	0.85[ASN][1000 genomes]
rs72657047	0.82[ASN][1000 genomes]
rs7656032	0.80[ASN][1000 genomes]
rs7696792	0.98[ASN][1000 genomes]
rs7697230	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7698625	0.87[ASN][1000 genomes]
rs943821	0.83[ASN][1000 genomes]
rs943822	0.83[ASN][1000 genomes]
rs9762380	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv818246	chr4:79184338-79221851	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79169800-79197400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:79169800-79213800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:79174600-79197400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:79174800-79214400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:79175000-79188000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:79176400-79191000	Weak transcription	Psoas Muscle	Psoas
7	chr4:79176600-79189200	Weak transcription	Fetal Heart	heart
8	chr4:79182400-79189600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:79185600-79192400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:79185800-79190200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:79186000-79192000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:79186200-79188000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:79186200-79189000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:79186200-79189000	Strong transcription	Fetal Intestine Large	intestine
15	chr4:79186200-79189600	Strong transcription	HepG2	liver
16	chr4:79186600-79188200	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr4:79186600-79188400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:79187000-79188600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:79187400-79188200	ZNF genes & repeats	HSMMtube	muscle
20	chr4:79187400-79188600	ZNF genes & repeats	Pancreas	Pancrea
21	chr4:79187600-79188600	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr4:79187600-79188800	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr4:79187600-79192400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:79187600-79192600	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr4:79187600-79193000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:79187600-79214800	Weak transcription	Left Ventricle	heart
27	chr4:79187800-79188000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:79187800-79188400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:79187800-79188400	Weak transcription	Fetal Lung	lung
30	chr4:79187800-79188600	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr4:79187800-79192400	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:79187800-79197400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:79187800-79197600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:79187800-79210400	Weak transcription	Fetal Kidney	kidney

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