Variant report

Variant	rs7835930
Chromosome Location	chr8:62586471-62586472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:62585886..62587579-chr8:62590749..62593220,2	K562	blood:
2	chr8:62585694..62588501-chr8:62594480..62597197,2	K562	blood:
3	chr8:62579226..62581642-chr8:62585745..62588576,2	K562	blood:
4	chr8:62583770..62586612-chr8:62594072..62596206,2	MCF-7	breast:
5	chr8:62585552..62587244-chr8:62613308..62616165,2	K562	blood:

Variant related genes	Relation type
ENSG00000198363	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10504331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12375366	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13248720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13257276	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13262237	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1878412	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1996376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35087344	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35165876	0.93[EUR][1000 genomes]
rs35269225	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35271095	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36026311	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56225427	0.84[AFR][1000 genomes]
rs62505964	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62505968	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62505969	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62508861	0.94[EUR][1000 genomes]
rs6471966	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6986031	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs7002770	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7005567	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7012401	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7830027	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs949761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs998427	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7835930	CA8	cis	cerebellum	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62513000-62594800	Weak transcription	Brain Anterior Caudate	brain
2	chr8:62518000-62597600	Weak transcription	Small Intestine	intestine
3	chr8:62534000-62612400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:62542800-62600000	Weak transcription	Psoas Muscle	Psoas
5	chr8:62550400-62601400	Weak transcription	Colonic Mucosa	Colon
6	chr8:62550600-62601000	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:62552400-62590600	Weak transcription	Primary T cells from cord blood	blood
8	chr8:62553000-62588400	Weak transcription	Spleen	Spleen
9	chr8:62553000-62603800	Weak transcription	Pancreas	Pancrea
10	chr8:62553200-62595200	Weak transcription	Fetal Lung	lung
11	chr8:62553200-62603800	Weak transcription	Gastric	stomach
12	chr8:62553400-62600000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:62553600-62597800	Weak transcription	Fetal Intestine Large	intestine
14	chr8:62554800-62588400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:62555000-62601200	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:62556800-62594600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:62558600-62590400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:62558800-62602200	Weak transcription	Aorta	Aorta
19	chr8:62558800-62602600	Weak transcription	Fetal Intestine Small	intestine
20	chr8:62559600-62588200	Weak transcription	HSMMtube	muscle
21	chr8:62559600-62594600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:62561000-62598000	Weak transcription	Placenta	Placenta
23	chr8:62561000-62602200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:62563400-62594800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr8:62563400-62603000	Weak transcription	Fetal Stomach	stomach
26	chr8:62563800-62590400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:62566200-62595200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:62566200-62602200	Weak transcription	Ovary	ovary
29	chr8:62568400-62596400	Weak transcription	Fetal Kidney	kidney
30	chr8:62571800-62600600	Weak transcription	Right Ventricle	heart
31	chr8:62574000-62588600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:62574200-62588600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:62574200-62592600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:62575800-62602200	Weak transcription	Brain Substantia Nigra	brain
35	chr8:62576200-62600000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr8:62576400-62597200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:62576600-62598200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:62576600-62600000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:62577400-62588600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:62577600-62597600	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:62578000-62588600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:62578200-62588200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:62578200-62589600	Weak transcription	Fetal Brain Male	brain
44	chr8:62578400-62588400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr8:62579000-62588200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:62579000-62595400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:62579400-62587000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr8:62579400-62600600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:62579400-62623000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr8:62580800-62586600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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