Variant report

Variant	rs4917774
Chromosome Location	chr10:99281872-99281873
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:99256542..99259693-chr10:99280360..99283727,3	MCF-7	breast:
2	chr10:99280525..99282276-chr10:99293134..99294655,2	K562	blood:
3	chr10:99280106..99282140-chr10:99290558..99292747,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165886	Chromatin interaction
ENSG00000155229	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10882963	0.86[CHB][hapmap]
rs11189267	0.86[CHB][hapmap]
rs11189274	0.91[CHB][hapmap]
rs11189284	0.81[CHB][hapmap]
rs11814566	0.91[CHB][hapmap]
rs12767760	0.86[CHB][hapmap]
rs1417408	0.91[CHB][hapmap]
rs2282372	0.81[CHB][hapmap]
rs34716440	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4919105	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7075656	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7089060	0.94[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7895702	0.87[ASN][1000 genomes]
rs7923541	0.91[CHB][hapmap];0.88[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1036494	chr10:99267639-99345207	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4917774	CC2D2B	cis	cerebellum	SCAN
rs4917774	MMS19	cis	parietal	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99270800-99286200	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr10:99273800-99283200	Enhancers	Fetal Muscle Leg	muscle
3	chr10:99273800-99283200	Enhancers	Left Ventricle	heart
4	chr10:99274200-99285000	Enhancers	Right Ventricle	heart
5	chr10:99275000-99293800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr10:99276000-99284400	Weak transcription	HepG2	liver
7	chr10:99277200-99282800	Enhancers	HSMMtube	muscle
8	chr10:99277800-99301800	Weak transcription	Gastric	stomach
9	chr10:99278000-99302600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr10:99278200-99298800	Weak transcription	Aorta	Aorta
11	chr10:99278400-99289600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr10:99278400-99301800	Weak transcription	Spleen	Spleen
13	chr10:99278600-99284400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:99278600-99300200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr10:99278800-99284400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr10:99279000-99284400	Weak transcription	Ovary	ovary
17	chr10:99279400-99284600	Weak transcription	Adipose Nuclei	Adipose
18	chr10:99279600-99282000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr10:99279600-99284000	Enhancers	Right Atrium	heart
20	chr10:99279800-99282000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr10:99279800-99282000	Weak transcription	Brain Substantia Nigra	brain
22	chr10:99279800-99282200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr10:99279800-99283800	Weak transcription	Brain Hippocampus Middle	brain
24	chr10:99279800-99284600	Weak transcription	Brain Angular Gyrus	brain
25	chr10:99279800-99287200	Enhancers	Lung	lung
26	chr10:99280200-99282000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr10:99280200-99284600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr10:99280400-99282000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr10:99280400-99282200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:99280400-99282200	Enhancers	Pancreas	Pancrea
31	chr10:99280400-99283000	Enhancers	Fetal Muscle Trunk	muscle
32	chr10:99280600-99283000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr10:99281200-99282000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr10:99281200-99282200	Enhancers	Psoas Muscle	Psoas
35	chr10:99281200-99291400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr10:99281400-99282200	Enhancers	Brain Cingulate Gyrus	brain
37	chr10:99281400-99282600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr10:99281400-99282800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr10:99281400-99302200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr10:99281600-99282200	Enhancers	Fetal Lung	lung
41	chr10:99281600-99282600	Enhancers	Brain Anterior Caudate	brain
42	chr10:99281600-99282600	Enhancers	HSMM	muscle
43	chr10:99281800-99282000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr10:99281800-99282200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:99281800-99282200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr10:99281800-99282800	Enhancers	Esophagus	oesophagus
47	chr10:99281800-99283600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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