Variant report

Variant	rs2410611
Chromosome Location	chr8:19248361-19248362
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:19246942..19249013-chr8:19251445..19254016,2	K562	blood:
2	chr8:19243158..19244693-chr8:19247336..19250088,2	MCF-7	breast:
3	chr8:19246919..19248949-chr8:19621719..19623568,2	MCF-7	breast:
4	chr8:19246281..19248749-chr8:19673306..19676038,2	MCF-7	breast:
5	chr8:19246910..19249076-chr8:19674040..19675600,2	MCF-7	breast:
6	chr8:19245853..19248424-chr8:19264040..19266305,2	MCF-7	breast:
7	chr8:19245003..19248464-chr8:19252162..19256737,5	MCF-7	breast:
8	chr8:19229040..19231185-chr8:19244453..19248477,4	MCF-7	breast:
9	chr8:19243547..19245483-chr8:19247130..19249437,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104613	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10105089	0.89[ASN][1000 genomes]
rs1915421	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2280443	0.83[CHD][hapmap]
rs7357583	0.83[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026466	chr8:18433493-19271274	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539520	chr8:18433493-19271274	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv890610	chr8:18749120-19260599	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv890614	chr8:18838764-19274793	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active 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 lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv1016993	chr8:18855623-19311731	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv1033229	chr8:19081684-19271274	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
13	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
15	nsv890622	chr8:19224772-19275354	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
16	nsv610751	chr8:19226335-19284889	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
17	esv3693374	chr8:19241970-19359184	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2410611	SORBS3	cis	parietal	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19173600-19254800	Weak transcription	Colonic Mucosa	Colon
2	chr8:19214400-19266200	Weak transcription	Aorta	Aorta
3	chr8:19230000-19248400	Weak transcription	Spleen	Spleen
4	chr8:19230000-19248600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:19233400-19266200	Weak transcription	Brain Anterior Caudate	brain
6	chr8:19234000-19248800	Weak transcription	Lung	lung
7	chr8:19234000-19251600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:19238400-19263200	Weak transcription	Right Ventricle	heart
9	chr8:19239800-19251800	Weak transcription	Fetal Lung	lung
10	chr8:19241200-19265800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:19241600-19251800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:19243000-19249600	Strong transcription	HepG2	liver
13	chr8:19243800-19249000	Enhancers	Pancreas	Pancrea
14	chr8:19243800-19257400	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:19243800-19263200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:19244000-19248600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:19244000-19248600	Weak transcription	HSMMtube	muscle
18	chr8:19244000-19248800	Weak transcription	Fetal Brain Female	brain
19	chr8:19244000-19250600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:19244000-19256400	Weak transcription	Thymus	Thymus
21	chr8:19244200-19249800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:19244200-19251600	Weak transcription	Esophagus	oesophagus
23	chr8:19244200-19252200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:19244200-19253400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:19244200-19254800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:19244200-19255400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:19244200-19256400	Weak transcription	Brain Germinal Matrix	brain
28	chr8:19244200-19265800	Weak transcription	Brain Angular Gyrus	brain
29	chr8:19244400-19249800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:19244400-19251000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:19244400-19251200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:19244400-19254400	Weak transcription	NHEK	skin
33	chr8:19244400-19255400	Strong transcription	Hela-S3	cervix
34	chr8:19244400-19266200	Strong transcription	Placenta	Placenta
35	chr8:19244600-19249800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:19245000-19248800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:19245000-19249000	Strong transcription	Osteobl	bone
38	chr8:19245000-19256000	Strong transcription	Fetal Stomach	stomach
39	chr8:19245200-19248800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:19245200-19249000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr8:19245400-19253800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:19245600-19248800	Weak transcription	Gastric	stomach
43	chr8:19245600-19248800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr8:19245600-19250000	Weak transcription	HMEC	breast
45	chr8:19245600-19251400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr8:19245800-19255600	Strong transcription	Fetal Intestine Small	intestine
47	chr8:19246000-19261400	Weak transcription	Brain Substantia Nigra	brain
48	chr8:19246200-19248800	Genic enhancers	A549	lung
49	chr8:19246200-19265800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr8:19246400-19248600	Enhancers	Liver	Liver

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