Variant report

Variant	rs210617
Chromosome Location	chr6:117860058-117860059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:117857865..117860063-chr6:117863787..117868027,4	K562	blood:

Variant related genes	Relation type
ENSG00000164465	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10457315	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10457318	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10872153	0.85[EUR][1000 genomes]
rs11153672	0.94[JPT][hapmap]
rs12205963	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1501474	0.89[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs1532680	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1759	0.89[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1967193	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1967194	0.82[EUR][1000 genomes]
rs2062663	0.85[CHB][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes]
rs2071825	0.87[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2088870	0.85[EUR][1000 genomes]
rs210620	0.82[CEU][hapmap]
rs210625	0.82[CEU][hapmap]
rs210630	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs210633	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs210637	0.89[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs210639	0.87[ASW][hapmap];0.89[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs210642	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3752848	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4946265	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4946267	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4946269	0.88[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4946273	0.89[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.80[GIH][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs67663020	0.81[EUR][1000 genomes]
rs8088	0.82[CEU][hapmap]
rs9285425	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9285426	0.89[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes]
rs9320612	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9320614	0.81[EUR][1000 genomes]
rs9320616	0.82[EUR][1000 genomes]
rs9320617	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9374671	0.89[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9374674	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9387491	0.89[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9401014	0.89[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9401019	0.82[EUR][1000 genomes]
rs9401023	0.82[EUR][1000 genomes]
rs9489223	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489238	0.81[ASW][hapmap];0.89[CEU][hapmap];0.87[CHB][hapmap];0.80[GIH][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs9767060	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs210617	FRK	cis	cerebellum	SCAN
rs210617	RWDD1	cis	parietal	SCAN
rs210617	GJA1	cis	parietal	SCAN

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117819800-117868800	Weak transcription	Spleen	Spleen
2	chr6:117821600-117868800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:117823200-117868800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:117823200-117869600	Weak transcription	Small Intestine	intestine
5	chr6:117828000-117866200	Weak transcription	Esophagus	oesophagus
6	chr6:117834400-117861800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:117834400-117863600	Weak transcription	Gastric	stomach
8	chr6:117834800-117860600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:117835200-117868800	Weak transcription	Colonic Mucosa	Colon
10	chr6:117835400-117868800	Weak transcription	Psoas Muscle	Psoas
11	chr6:117836600-117861800	Weak transcription	Pancreas	Pancrea
12	chr6:117836600-117869600	Weak transcription	Stomach Mucosa	stomach
13	chr6:117837200-117860600	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:117838600-117869000	Weak transcription	Ovary	ovary
15	chr6:117842000-117860600	Weak transcription	Fetal Stomach	stomach
16	chr6:117842800-117866200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:117845200-117866200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr6:117845800-117868800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:117846800-117869600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:117847600-117861800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:117851800-117860600	Weak transcription	Fetal Intestine Small	intestine
22	chr6:117851800-117868800	Weak transcription	Right Ventricle	heart
23	chr6:117852600-117861400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:117852800-117863600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:117852800-117867800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr6:117853000-117861400	Weak transcription	Fetal Lung	lung
27	chr6:117853200-117861800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr6:117853200-117862600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:117853200-117868600	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr6:117853200-117868600	Strong transcription	HSMM	muscle
31	chr6:117853400-117860400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr6:117853400-117868800	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:117853400-117868800	Weak transcription	NHDF-Ad	bronchial
34	chr6:117853600-117868600	Strong transcription	Osteobl	bone
35	chr6:117853600-117868800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr6:117854000-117860200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:117854200-117868800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr6:117854400-117868800	Weak transcription	Brain Angular Gyrus	brain
39	chr6:117855000-117868200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr6:117855200-117860600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:117855200-117861000	Weak transcription	Left Ventricle	heart
42	chr6:117856800-117861400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:117857000-117869200	Weak transcription	Fetal Kidney	kidney
44	chr6:117857600-117862400	Strong transcription	NHLF	lung
45	chr6:117857800-117867600	Weak transcription	Hela-S3	cervix
46	chr6:117857800-117868600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:117858000-117860400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:117858000-117860600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:117858000-117861800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:117858000-117867600	Weak transcription	HSMMtube	muscle

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