Variant report

Variant	rs6997503
Chromosome Location	chr8:118905305-118905306
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10103490	0.82[CHB][hapmap]
rs10110572	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10808489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781153	0.81[JPT][hapmap]
rs13251971	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13266866	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs13275942	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17430540	0.82[JPT][hapmap]
rs17450835	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs17475190	0.80[CHB][hapmap]
rs4541958	0.81[JPT][hapmap]
rs4602926	0.82[JPT][hapmap]
rs6469715	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6981592	1.00[CEU][hapmap]
rs6990519	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7002023	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7007735	0.80[JPT][hapmap]
rs7014561	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs7814022	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7841914	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9692869	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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
5	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118881200-118907600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
3	chr8:118888200-118908600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:118890000-118914600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:118891200-118910400	Weak transcription	Psoas Muscle	Psoas
6	chr8:118894600-118912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:118894800-118905600	Weak transcription	HMEC	breast
8	chr8:118896800-118905400	Weak transcription	Stomach Mucosa	stomach
9	chr8:118896800-118909000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:118897600-118908000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:118899000-118907000	Weak transcription	HUVEC	blood vessel
12	chr8:118900200-118907800	Weak transcription	Primary T cells from cord blood	blood
13	chr8:118900400-118905600	Weak transcription	HSMMtube	muscle
14	chr8:118901400-118905600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:118901600-118905800	Weak transcription	Aorta	Aorta
16	chr8:118901600-118908600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:118901600-118908800	Weak transcription	Fetal Intestine Small	intestine
18	chr8:118901600-118909200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:118901800-118908600	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:118902600-118905600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:118902600-118906200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:118902800-118906400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:118903400-118907000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:118903400-118907400	Enhancers	Fetal Heart	heart
25	chr8:118903800-118905600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:118903800-118905800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:118903800-118906000	Genic enhancers	NHLF	lung
28	chr8:118903800-118907400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:118903800-118907600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:118904000-118910600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:118904200-118905800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:118904200-118907200	Enhancers	Left Ventricle	heart
33	chr8:118904400-118905400	Genic enhancers	Osteobl	bone
34	chr8:118904400-118906200	Enhancers	Pancreas	Pancrea
35	chr8:118904400-118906200	Enhancers	Right Atrium	heart
36	chr8:118904400-118906400	Enhancers	Ovary	ovary
37	chr8:118904400-118907400	Enhancers	Right Ventricle	heart
38	chr8:118904400-118907400	Enhancers	NH-A	brain
39	chr8:118904400-118912600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr8:118904600-118905400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:118904600-118905600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:118904600-118905600	Enhancers	Brain Substantia Nigra	brain
43	chr8:118904600-118905600	Enhancers	Stomach Smooth Muscle	stomach
44	chr8:118904600-118905800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:118904600-118908000	Weak transcription	Brain Germinal Matrix	brain
46	chr8:118904800-118906800	Weak transcription	Lung	lung
47	chr8:118904800-118907000	Weak transcription	Liver	Liver
48	chr8:118905000-118905800	Weak transcription	HSMM	muscle
49	chr8:118905000-118906000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:118905000-118906000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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