Variant report

Variant	rs7896918
Chromosome Location	chr10:18972378-18972379
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:18962456..18966517-chr10:18966877..18973376,6	K562	blood:
2	chr10:18966816..18969348-chr10:18971030..18973085,3	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1027193	0.89[ASN][1000 genomes]
rs1055116	0.88[CHD][hapmap];0.84[ASN][1000 genomes]
rs10741111	0.83[JPT][hapmap]
rs10741115	0.84[JPT][hapmap]
rs10741129	0.84[ASN][1000 genomes]
rs10741132	0.88[ASN][1000 genomes]
rs10764601	0.84[JPT][hapmap]
rs10764691	0.88[ASN][1000 genomes]
rs10828870	0.81[CHD][hapmap]
rs10828896	0.84[JPT][hapmap]
rs10828975	0.84[CHD][hapmap];0.84[JPT][hapmap]
rs10829022	0.84[JPT][hapmap]
rs10829058	0.87[CHD][hapmap];0.84[JPT][hapmap]
rs10829070	0.84[JPT][hapmap]
rs10829213	0.88[ASN][1000 genomes]
rs11014981	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs11015312	0.84[JPT][hapmap]
rs11015435	0.88[CHB][hapmap];0.84[JPT][hapmap]
rs11511084	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs11540309	0.84[CHD][hapmap];0.84[JPT][hapmap]
rs11597737	0.80[ASN][1000 genomes]
rs11812501	0.84[ASN][1000 genomes]
rs12098599	0.86[ASN][1000 genomes]
rs12762481	0.88[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap]
rs12762752	0.83[ASN][1000 genomes]
rs12765026	0.86[ASN][1000 genomes]
rs12766314	0.88[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap]
rs12767046	0.84[ASN][1000 genomes]
rs12767923	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs12769425	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs12770851	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs12772522	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs12778035	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs12781208	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs12782882	0.89[ASN][1000 genomes]
rs12784986	0.88[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap]
rs2130531	0.88[CHB][hapmap];0.84[JPT][hapmap]
rs2228645	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs2272274	0.81[CHD][hapmap]
rs3740102	0.88[CHD][hapmap];0.89[JPT][hapmap]
rs3740104	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs3817494	0.87[CHD][hapmap];0.84[JPT][hapmap]
rs4237349	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs4310518	0.81[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs4445544	0.84[JPT][hapmap]
rs4468242	0.88[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap]
rs4748488	0.84[CHD][hapmap];0.84[JPT][hapmap]
rs4748496	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs4748499	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs4748509	0.88[ASN][1000 genomes]
rs6482515	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs6482533	0.84[CHD][hapmap];0.84[JPT][hapmap]
rs6482597	0.88[CHD][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs7072624	0.88[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs7072963	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs7087030	0.80[ASN][1000 genomes]
rs7096923	0.88[CHB][hapmap];0.81[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs7099260	0.88[CHD][hapmap];0.84[JPT][hapmap]
rs7099423	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs7100880	0.84[CHD][hapmap];0.84[JPT][hapmap]
rs7895784	0.87[CHD][hapmap];0.84[JPT][hapmap]
rs7897159	0.82[CHB][hapmap]
rs7904016	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs7904949	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs7905365	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs7909570	0.88[ASN][1000 genomes]
rs7909845	0.88[ASN][1000 genomes]
rs7910902	0.84[ASN][1000 genomes]
rs7922005	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550042	chr10:18683267-18994583	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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	16 gene(s)	inside rSNPs	diseases
2	nsv466762	chr10:18932172-18976659	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv550121	chr10:18932172-18976659	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7896918	RP11-499P20.2	cis	Muscle Skeletal	GTEx
rs7896918	ARL5B	cis	multi-tissue	Pritchard

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18949400-18973200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:18951000-18976400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:18951400-18973800	Weak transcription	Aorta	Aorta
4	chr10:18954400-18973400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:18955000-18972600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:18956200-18973200	Weak transcription	Small Intestine	intestine
7	chr10:18959000-18973600	Weak transcription	Left Ventricle	heart
8	chr10:18960000-18972400	Weak transcription	Brain Hippocampus Middle	brain
9	chr10:18960800-18973400	Weak transcription	Ovary	ovary
10	chr10:18961000-18973600	Weak transcription	Thymus	Thymus
11	chr10:18962400-18973600	Weak transcription	Fetal Intestine Small	intestine
12	chr10:18962400-18973600	Weak transcription	Fetal Stomach	stomach
13	chr10:18963200-18973400	Weak transcription	Pancreas	Pancrea
14	chr10:18964000-18973000	Weak transcription	Primary T cells from cord blood	blood
15	chr10:18964200-18973400	Weak transcription	Psoas Muscle	Psoas
16	chr10:18964600-18973600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr10:18964600-18973800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr10:18964800-18973400	Weak transcription	Fetal Brain Female	brain
19	chr10:18964800-18973400	Weak transcription	HUVEC	blood vessel
20	chr10:18964800-18973800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr10:18965000-18972800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr10:18965000-18973400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr10:18965200-18972400	Weak transcription	Colon Smooth Muscle	Colon
24	chr10:18965200-18973400	Weak transcription	Brain Germinal Matrix	brain
25	chr10:18965200-18973400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr10:18965400-18973000	Weak transcription	Fetal Thymus	thymus
27	chr10:18966200-18972800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:18966200-18973000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr10:18966200-18973400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:18966200-18973400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr10:18966200-18976000	Weak transcription	HepG2	liver
32	chr10:18966600-18972400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr10:18966600-18973200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr10:18966600-18973400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr10:18966600-18973400	Weak transcription	Primary B cells from cord blood	blood
36	chr10:18966600-18973400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr10:18966600-18973400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr10:18966600-18974600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr10:18966800-18973400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr10:18967200-18973400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr10:18967600-18972400	Weak transcription	Colonic Mucosa	Colon
42	chr10:18968000-18973200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr10:18968400-18978800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr10:18969800-18974200	Enhancers	Osteobl	bone
45	chr10:18969800-18974800	Enhancers	Hela-S3	cervix
46	chr10:18970000-18973000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr10:18970000-18973200	Enhancers	NHDF-Ad	bronchial
48	chr10:18970000-18974200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr10:18970200-18973000	Enhancers	Placenta Amnion	Placenta Amnion
50	chr10:18970200-18973000	Enhancers	HMEC	breast

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