Variant report

Variant	rs929275
Chromosome Location	chr7:83831284-83831285
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:83644236..83646821-chr7:83830858..83833552,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10081337	0.81[EUR][1000 genomes]
rs1015629	0.83[EUR][1000 genomes]
rs10231889	0.81[EUR][1000 genomes]
rs10260152	0.81[EUR][1000 genomes]
rs10263842	0.81[EUR][1000 genomes]
rs11971807	0.81[EUR][1000 genomes]
rs11979170	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12539919	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1986177	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4607535	0.81[EUR][1000 genomes]
rs471477	0.81[EUR][1000 genomes]
rs514083	0.81[EUR][1000 genomes]
rs521401	0.81[EUR][1000 genomes]
rs584566	0.81[EUR][1000 genomes]
rs6946162	0.81[EUR][1000 genomes]
rs6964607	0.81[EUR][1000 genomes]
rs727784	0.81[EUR][1000 genomes]
rs7782557	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7787024	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7799452	0.81[EUR][1000 genomes]
rs7800664	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7800995	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7805512	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs811622	0.80[EUR][1000 genomes]
rs812780	0.81[EUR][1000 genomes]
rs9642174	0.89[ASN][1000 genomes]
rs9642175	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs996033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83825400-83836000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:83825800-83834200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:83825800-83836400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:83825800-83841200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:83826000-83833800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:83826000-83834200	Weak transcription	Fetal Brain Male	brain
7	chr7:83826400-83833600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:83828000-83831600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:83828000-83832200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:83828000-83832600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:83828400-83832400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:83829200-83831400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:83829200-83832600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:83829400-83831400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:83829400-83831400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:83829600-83831400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:83830400-83832600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:83830400-83839600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr7:83830600-83832000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:83830600-83832600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:83830600-83832600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:83830800-83831800	Weak transcription	NH-A	brain
23	chr7:83830800-83832600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:83830800-83833800	Weak transcription	NHLF	lung
25	chr7:83831000-83832600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:83831000-83836400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:83831200-83832000	Enhancers	H9 Cell Line	embryonic stem cell
28	chr7:83831200-83833600	Weak transcription	NHDF-Ad	bronchial
29	chr7:83831200-83836400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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