Variant report

Variant	rs2306975
Chromosome Location	chr8:48353258-48353259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1542721	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2306975	KIAA0146	cis	parietal	SCAN
rs2306975	MCM4	cis	cerebellum	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48310800-48354800	Weak transcription	Right Ventricle	heart
2	chr8:48312800-48358600	Weak transcription	Thymus	Thymus
3	chr8:48312800-48367600	Weak transcription	Pancreas	Pancrea
4	chr8:48312800-48377000	Weak transcription	Esophagus	oesophagus
5	chr8:48313200-48361000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr8:48323000-48354200	Weak transcription	Spleen	Spleen
7	chr8:48323000-48364400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:48326000-48366000	Weak transcription	Gastric	stomach
9	chr8:48326200-48354800	Weak transcription	HMEC	breast
10	chr8:48326200-48362600	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:48328400-48362600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:48328600-48361800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:48328600-48362400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:48328600-48364000	Weak transcription	Fetal Intestine Large	intestine
15	chr8:48328600-48371400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr8:48328600-48374600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:48335000-48362400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:48335400-48363400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:48337800-48357000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr8:48340200-48356800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:48340400-48364000	Weak transcription	Lung	lung
22	chr8:48340600-48365600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:48342000-48362600	Weak transcription	Ovary	ovary
24	chr8:48342200-48372600	Weak transcription	Liver	Liver
25	chr8:48342600-48364000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:48342800-48355600	Weak transcription	Fetal Brain Female	brain
27	chr8:48343000-48354800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr8:48343800-48366800	Weak transcription	Aorta	Aorta
29	chr8:48343800-48371400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:48344200-48355000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:48344200-48355800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:48344200-48363200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:48344400-48363200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:48344800-48362800	Weak transcription	A549	lung
35	chr8:48345000-48369800	Weak transcription	NH-A	brain
36	chr8:48345000-48370600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:48346200-48362600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:48346800-48358400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:48347200-48366000	Weak transcription	Fetal Thymus	thymus
40	chr8:48348800-48355000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:48349600-48362400	Weak transcription	Fetal Intestine Small	intestine
42	chr8:48349600-48363800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:48349600-48363800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:48350400-48353600	Enhancers	Fetal Lung	lung
45	chr8:48350400-48353600	Enhancers	HSMM	muscle
46	chr8:48350600-48353400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:48350600-48353400	Enhancers	HSMMtube	muscle
48	chr8:48350600-48353600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr8:48350600-48353600	Enhancers	NHDF-Ad	bronchial
50	chr8:48350600-48353800	Enhancers	Osteobl	bone

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