Variant report

Variant	rs7781126
Chromosome Location	chr7:83774499-83774500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:83771843..83774813-chr7:83782378..83785250,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10230974	0.81[EUR][1000 genomes]
rs10231580	0.88[CHB][hapmap]
rs10232605	0.93[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10244779	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10257628	0.88[CHB][hapmap];0.89[CHD][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10263183	0.82[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10277194	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs10278542	0.81[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10282129	0.81[EUR][1000 genomes]
rs10488270	0.88[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs10488271	0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11769574	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11773308	0.88[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.87[ASN][1000 genomes]
rs12707621	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13222995	0.88[CHB][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap]
rs13246393	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17158648	0.88[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs17158650	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17158668	0.88[CHB][hapmap];0.92[CHD][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17158671	0.88[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17301441	0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs2040873	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2040874	0.87[CHB][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2158567	0.88[CHB][hapmap];0.89[CHD][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2189851	0.82[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2214665	0.88[CHB][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2301892	0.85[TSI][hapmap]
rs2372034	0.88[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs34018474	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34805696	0.81[EUR][1000 genomes]
rs35789545	0.80[ASN][1000 genomes]
rs3801653	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs3801656	0.88[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs4461845	0.81[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6959163	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7778244	0.81[EUR][1000 genomes]
rs7780521	0.81[EUR][1000 genomes]
rs7791361	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs7794876	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs7811829	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83761000-83775200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:83767000-83776800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:83769800-83775200	Weak transcription	Fetal Lung	lung
4	chr7:83769800-83775200	Weak transcription	NHLF	lung
5	chr7:83769800-83775400	Weak transcription	Fetal Stomach	stomach
6	chr7:83770800-83795000	Weak transcription	NHDF-Ad	bronchial
7	chr7:83771800-83777800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:83772000-83776200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:83772000-83777200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:83772600-83775400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:83772800-83775600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:83773000-83774600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:83773000-83779400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:83773200-83779000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:83773400-83775800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:83773600-83774600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr7:83773600-83774600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr7:83773600-83775400	Enhancers	Hela-S3	cervix
19	chr7:83773800-83774600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr7:83773800-83774600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr7:83773800-83774600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr7:83773800-83774800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:83773800-83775000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:83774000-83774600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:83774000-83774600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:83774000-83774800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:83774000-83774800	Flanking Active TSS	A549	lung
28	chr7:83774000-83775000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:83774000-83776800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr7:83774000-83778600	Enhancers	Colon Smooth Muscle	Colon
31	chr7:83774200-83774600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr7:83774200-83775200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:83774200-83775200	Weak transcription	Fetal Heart	heart
34	chr7:83774200-83775800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr7:83774200-83778000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:83774200-83778000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:83774400-83774600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:83774400-83775600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:83774400-83775600	Enhancers	Brain Substantia Nigra	brain

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