Variant report

Variant	rs7538689
Chromosome Location	chr1:63106248-63106249
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10789121	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168116	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1183851	0.83[EUR][1000 genomes]
rs2031373	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv870559	chr1:63057136-63113719	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1000988	chr1:63061791-63107526	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7538689	DOCK7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63036800-63113600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:63066800-63112200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:63075600-63106600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:63079800-63108800	Weak transcription	Primary B cells from cord blood	blood
5	chr1:63082200-63121000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:63082800-63132600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:63083400-63119000	Weak transcription	Fetal Thymus	thymus
8	chr1:63084800-63121000	Weak transcription	Small Intestine	intestine
9	chr1:63085400-63113600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:63086400-63110600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:63087800-63106600	Weak transcription	Pancreas	Pancrea
12	chr1:63088000-63111400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:63088000-63134600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:63094000-63106400	Weak transcription	Brain Substantia Nigra	brain
15	chr1:63094600-63106600	Weak transcription	Right Ventricle	heart
16	chr1:63095400-63106600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:63096200-63106800	Weak transcription	Thymus	Thymus
18	chr1:63096200-63121000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:63096400-63106600	Weak transcription	Lung	lung
20	chr1:63096400-63106600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:63096400-63106800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:63096400-63106800	Weak transcription	NHEK	skin
23	chr1:63096400-63114000	Weak transcription	Spleen	Spleen
24	chr1:63096600-63108200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:63096800-63106600	Weak transcription	Aorta	Aorta
26	chr1:63096800-63106600	Weak transcription	Left Ventricle	heart
27	chr1:63096800-63129400	Weak transcription	Esophagus	oesophagus
28	chr1:63097000-63113800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:63097200-63106600	Weak transcription	Ovary	ovary
30	chr1:63097800-63106400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:63097800-63115400	Weak transcription	Colonic Mucosa	Colon
32	chr1:63098000-63121400	Weak transcription	HUVEC	blood vessel
33	chr1:63098400-63106400	Weak transcription	HSMMtube	muscle
34	chr1:63099400-63106400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:63099400-63108600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:63099400-63110800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:63099600-63106400	Weak transcription	Brain Germinal Matrix	brain
38	chr1:63099600-63106400	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:63099600-63106600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:63099600-63106800	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:63099600-63106800	Weak transcription	NH-A	brain
42	chr1:63099600-63108600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:63099600-63109000	Weak transcription	Fetal Brain Male	brain
44	chr1:63099600-63109800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:63099600-63109800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:63099600-63122800	Weak transcription	Brain Angular Gyrus	brain
47	chr1:63099600-63137000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr1:63099800-63106400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:63099800-63106400	Weak transcription	Liver	Liver
50	chr1:63099800-63106400	Weak transcription	Brain Inferior Temporal Lobe	brain

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