Variant report

Variant	rs11510517
Chromosome Location	chr6:117851218-117851219
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11153668	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11153669	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1501473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17079332	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs210651	0.96[YRI][hapmap]
rs2134089	0.95[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173892	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946263	0.95[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9285421	0.94[ASW][hapmap]
rs9285422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9285423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9285424	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9320606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9374667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs9387487	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11510517	ZUFSP	cis	parietal	SCAN
rs11510517	BET3L	cis	parietal	SCAN
rs11510517	BRD7P3	cis	parietal	SCAN
rs11510517	BRD7P3	cis	cerebellum	SCAN
rs11510517	LPIN2	trans	cerebellum	SCAN
rs11510517	NT5DC1	cis	parietal	SCAN

Chromatin state (count:67 , 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	chr6:117826400-117859800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:117828000-117866200	Weak transcription	Esophagus	oesophagus
7	chr6:117828400-117851600	Weak transcription	NHLF	lung
8	chr6:117833600-117851600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:117834400-117852800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:117834400-117861800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:117834400-117863600	Weak transcription	Gastric	stomach
12	chr6:117834800-117857400	Weak transcription	Aorta	Aorta
13	chr6:117834800-117860600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr6:117835200-117851600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:117835200-117868800	Weak transcription	Colonic Mucosa	Colon
16	chr6:117835400-117868800	Weak transcription	Psoas Muscle	Psoas
17	chr6:117835600-117852600	Weak transcription	HSMMtube	muscle
18	chr6:117835800-117857600	Weak transcription	Placenta	Placenta
19	chr6:117836600-117861800	Weak transcription	Pancreas	Pancrea
20	chr6:117836600-117869600	Weak transcription	Stomach Mucosa	stomach
21	chr6:117837200-117860600	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:117838600-117869000	Weak transcription	Ovary	ovary
23	chr6:117839000-117851400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:117842000-117854200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:117842000-117860600	Weak transcription	Fetal Stomach	stomach
26	chr6:117842200-117852600	Weak transcription	Left Ventricle	heart
27	chr6:117842400-117851800	Weak transcription	Adipose Nuclei	Adipose
28	chr6:117842800-117866200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:117843600-117853000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr6:117844000-117853000	Weak transcription	Fetal Intestine Large	intestine
31	chr6:117844000-117853200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr6:117844800-117851600	Weak transcription	NHDF-Ad	bronchial
33	chr6:117845200-117866200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr6:117845800-117868800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:117846800-117869600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:117847200-117852400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:117847400-117857600	Weak transcription	NHEK	skin
38	chr6:117847600-117861800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr6:117848600-117856800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr6:117849000-117852400	Weak transcription	HepG2	liver
41	chr6:117849600-117852400	Weak transcription	HMEC	breast
42	chr6:117849800-117852600	Weak transcription	HUVEC	blood vessel
43	chr6:117849800-117852800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr6:117849800-117857400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr6:117850000-117851600	Weak transcription	HSMM	muscle
46	chr6:117850000-117851800	Weak transcription	NH-A	brain
47	chr6:117850000-117852600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:117850000-117852600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:117851000-117851800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:117851000-117851800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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