Variant report

Variant	rs7835605
Chromosome Location	chr8:119124901-119124902
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:119124775-119125273	K562	blood:	n/a	n/a
2	POLR2A	chr8:119123936-119125165	HCT-116	colon:	n/a	n/a
3	SMC3	chr8:119122809-119125558	Hela-S3	cervix:	n/a	n/a
4	REST	chr8:119122741-119125044	H1-neurons	neurons:	n/a	chr8:119124110-119124117
5	POLR2A	chr8:119123599-119125623	Hela-S3	cervix:	n/a	n/a
6	MAZ	chr8:119122672-119126306	IMR90	lung:	n/a	chr8:119125753-119125764 chr8:119125057-119125066
7	POLR2A	chr8:119122800-119125674	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr8:119123807-119125645	PFSK-1	brain:	n/a	n/a
9	RAD21	chr8:119119998-119126465	SK-N-SH	brain:	n/a	chr8:119125772-119125782
10	KAP1	chr8:119124730-119125743	HEK293	kidney:	n/a	n/a
11	E2F4	chr8:119124812-119124939	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr8:119124651-119125117	U87	brain:	n/a	n/a
13	POLR2A	chr8:119124603-119125034	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr8:119124815-119125491	HepG2	liver:	n/a	n/a
15	POLR2A	chr8:119123275-119125122	GM12891	blood:	n/a	n/a
16	POLR2A	chr8:119119438-119125957	IMR90	lung:	n/a	n/a
17	POLR2A	chr8:119119294-119125259	U87	brain:	n/a	n/a
18	POLR2A	chr8:119123499-119125180	Raji	blood:	n/a	n/a
19	GATA2	chr8:119124796-119126277	SH-SY5Y	brain:	n/a	n/a
20	POLR2A	chr8:119121745-119125796	HepG2	liver:	n/a	n/a
21	POLR2A	chr8:119121561-119125538	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr8:119122799-119125669	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr8:119123982-119125053	PBDE	blood:	n/a	n/a
24	POLR2A	chr8:119123690-119125353	GM12878	blood:	n/a	n/a
25	POLR2A	chr8:119124576-119124942	HCT-116	colon:	n/a	n/a
26	POLR2A	chr8:119123667-119125880	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr8:119123012-119125121	HepG2	liver:	n/a	n/a
28	CHD1	chr8:119115687-119126076	IMR90	lung:	n/a	chr8:119123550-119123560
29	POLR2A	chr8:119123920-119125259	U87	brain:	n/a	n/a
30	POLR2A	chr8:119123475-119125651	ProgFib	skin:	n/a	n/a
31	POLR2A	chr8:119118909-119125793	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr8:119123737-119125637	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr8:119124581-119125545	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr8:119120741-119125873	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr8:119123015-119125601	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:41465753..41466267-chr8:119124188..119124953,2	Hela-S3	cervix:
2	chr8:119124512..119125012-chr8:145596006..145596638,2	MCF-7	breast:
3	chr8:119120329..119122682-chr8:119122926..119125583,4	MCF-7	breast:
4	chr8:119124285..119125855-chr8:119134931..119136550,3	K562	blood:
5	chr8:119124285..119125818-chr8:119134931..119136512,2	K562	blood:

No data

Variant related genes	Relation type
EXT1	TF binding region
ENSG00000188825	Chromatin interaction
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10755915	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10808492	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10808494	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955855	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955856	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12548404	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12675013	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13270513	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs1811528	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3757991	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4147528	0.81[CHD][hapmap]
rs4876400	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4876791	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6469721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469722	0.83[ASN][1000 genomes]
rs6991511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6993268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7008536	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7010382	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7011384	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7014053	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7818011	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7835956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs897828	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs897830	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv891412	chr8:119107051-119139385	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	esv3340875	chr8:119122996-119125544	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
10	esv3346788	chr8:119123071-119125569	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7835605	SNTB1	cis	parietal	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119118800-119125000	Active TSS	Aorta	Aorta
2	chr8:119119000-119125000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr8:119120000-119125000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:119122400-119125000	Active TSS	Brain Hippocampus Middle	brain
5	chr8:119122400-119125200	Active TSS	Liver	Liver
6	chr8:119122600-119125000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:119122600-119125000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr8:119122600-119125200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:119122800-119125000	Active TSS	GM12878-XiMat	blood
10	chr8:119123000-119125000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:119123200-119125000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:119123800-119125000	Active TSS	Fetal Brain Female	brain
13	chr8:119124400-119125000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:119124400-119125000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:119124400-119125000	Flanking Active TSS	HUVEC	blood vessel
16	chr8:119124400-119125400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr8:119124400-119125600	Flanking Active TSS	NH-A	brain
18	chr8:119124600-119125000	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr8:119124600-119125000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr8:119124600-119125000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr8:119124600-119125000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr8:119124600-119125000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr8:119124600-119125000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:119124600-119125000	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr8:119124600-119125000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:119124600-119125000	Flanking Active TSS	Colonic Mucosa	Colon
27	chr8:119124600-119125000	Flanking Active TSS	Fetal Brain Male	brain
28	chr8:119124600-119125000	Flanking Active TSS	Fetal Lung	lung
29	chr8:119124600-119125000	Flanking Active TSS	Dnd41	blood
30	chr8:119124600-119125000	Flanking Active TSS	HSMM	muscle
31	chr8:119124600-119125200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
32	chr8:119124600-119125200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr8:119124600-119125200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:119124600-119125200	Flanking Active TSS	Fetal Kidney	kidney
35	chr8:119124600-119125200	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr8:119124600-119125200	Flanking Active TSS	Fetal Stomach	stomach
37	chr8:119124600-119125200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr8:119124600-119125200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr8:119124600-119125400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:119124600-119125400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:119124600-119125400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:119124600-119125400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr8:119124600-119125400	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr8:119124600-119125400	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr8:119124600-119125400	Flanking Active TSS	HMEC	breast
46	chr8:119124600-119125400	Flanking Active TSS	NHEK	skin
47	chr8:119124600-119125600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:119124600-119125600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:119124600-119125600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:119124600-119125600	Flanking Active TSS	Duodenum Mucosa	Duodenum

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