Variant report

Variant	rs17008015
Chromosome Location	chr2:72501904-72501905
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	chr2:72496641..72498799-chr2:72499745..72502652,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11680197	0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs11695000	0.84[YRI][hapmap]
rs11897200	0.89[ASW][hapmap];0.81[LWK][hapmap];0.82[YRI][hapmap]
rs11902051	0.90[AFR][1000 genomes]
rs11903908	0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs17008082	0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs17008208	0.87[LWK][hapmap];0.82[YRI][hapmap]
rs2901190	0.81[YRI][hapmap]
rs56718524	0.82[AFR][1000 genomes]
rs58582296	0.83[AFR][1000 genomes]
rs66560019	0.82[AFR][1000 genomes]
rs66872550	1.00[ASN][1000 genomes]
rs6727580	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs6733538	0.82[YRI][hapmap]
rs7569059	0.86[AFR][1000 genomes]
rs7571483	0.82[AFR][1000 genomes]
rs7575050	0.89[ASW][hapmap];0.81[LWK][hapmap];0.82[YRI][hapmap]
rs7583268	0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs7597679	0.81[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]

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	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs17008015	DQX1	cis	parietal	SCAN
rs17008015	CCT7	cis	cerebellum	SCAN
rs17008015	TGFA	cis	parietal	SCAN
rs17008015	C2orf42	cis	cerebellum	SCAN
rs17008015	TTC31	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72489200-72508200	Weak transcription	Aorta	Aorta
2	chr2:72491200-72502200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:72497200-72503400	Enhancers	Fetal Intestine Large	intestine
4	chr2:72497400-72505400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:72498000-72503000	Enhancers	Fetal Intestine Small	intestine
6	chr2:72498200-72502400	Flanking Active TSS	A549	lung
7	chr2:72498400-72502800	Enhancers	Duodenum Mucosa	Duodenum
8	chr2:72499000-72502400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:72499400-72502200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:72499400-72503000	Weak transcription	Left Ventricle	heart
11	chr2:72499400-72507800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:72499400-72507800	Weak transcription	Psoas Muscle	Psoas
13	chr2:72499600-72502200	Weak transcription	Small Intestine	intestine
14	chr2:72499600-72502800	Weak transcription	Right Atrium	heart
15	chr2:72499600-72510400	Weak transcription	Right Ventricle	heart
16	chr2:72499800-72502000	Weak transcription	Fetal Brain Male	brain
17	chr2:72499800-72502400	Weak transcription	Ovary	ovary
18	chr2:72499800-72505200	Weak transcription	NHEK	skin
19	chr2:72500200-72502000	Weak transcription	Fetal Kidney	kidney
20	chr2:72500400-72502200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:72500600-72502800	Enhancers	Hela-S3	cervix
22	chr2:72500600-72503600	Enhancers	Brain Substantia Nigra	brain
23	chr2:72501000-72502600	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr2:72501000-72503000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:72501000-72505800	Weak transcription	Pancreas	Pancrea
26	chr2:72501400-72502000	Enhancers	Fetal Lung	lung
27	chr2:72501400-72502800	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:72501600-72502000	Enhancers	Colon Smooth Muscle	Colon
29	chr2:72501600-72502200	Enhancers	Brain Anterior Caudate	brain
30	chr2:72501600-72503400	Enhancers	Fetal Heart	heart
31	chr2:72501600-72503400	Weak transcription	NH-A	brain
32	chr2:72501600-72503600	Enhancers	Brain Hippocampus Middle	brain
33	chr2:72501800-72502000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr2:72501800-72502200	Weak transcription	Stomach Mucosa	stomach
35	chr2:72501800-72502400	Enhancers	HSMMtube	muscle
36	chr2:72501800-72502600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr2:72501800-72503200	Enhancers	Brain Germinal Matrix	brain

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