Variant report

Variant	rs1183851
Chromosome Location	chr1:62958658-62958659
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62952987..62955181-chr1:62956845..62959940,3	K562	blood:
2	chr1:62956362..62957936-chr1:62958074..62960377,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10789121	0.83[EUR][1000 genomes]
rs2031373	0.84[EUR][1000 genomes]
rs646179	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7538689	0.83[EUR][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	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	esv1829390	chr1:62931632-62997573	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1183851	DOCK7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62909800-62977000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:62915400-62966600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr1:62916000-62977200	Weak transcription	Right Ventricle	heart
4	chr1:62916200-62960000	Weak transcription	Spleen	Spleen
5	chr1:62916200-62963200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:62916600-62976600	Weak transcription	Psoas Muscle	Psoas
7	chr1:62919000-62959200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:62920000-62971000	Weak transcription	Thymus	Thymus
9	chr1:62920000-62980200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:62922600-62982000	Weak transcription	A549	lung
11	chr1:62923200-62979200	Weak transcription	Fetal Thymus	thymus
12	chr1:62934400-62981200	Weak transcription	Stomach Mucosa	stomach
13	chr1:62937400-62960000	Weak transcription	Pancreas	Pancrea
14	chr1:62938000-62960000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:62938000-62966600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:62938800-62973800	Weak transcription	Esophagus	oesophagus
17	chr1:62939200-62978200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:62939600-62999800	Weak transcription	Gastric	stomach
19	chr1:62939600-63040600	Weak transcription	Aorta	Aorta
20	chr1:62939800-62961600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:62939800-63044400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:62939800-63060200	Weak transcription	Small Intestine	intestine
23	chr1:62941000-62959200	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:62941000-63001000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:62941600-62959200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:62941600-62959800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:62941600-62975400	Weak transcription	NHLF	lung
28	chr1:62941600-62978600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:62941600-62981400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:62941600-62998200	Weak transcription	Fetal Heart	heart
31	chr1:62941600-63011800	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:62941800-62972600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:62941800-62978400	Weak transcription	NHEK	skin
34	chr1:62941800-62982000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:62941800-62984600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:62941800-63030200	Weak transcription	Brain Angular Gyrus	brain
37	chr1:62942000-62959200	Weak transcription	Fetal Kidney	kidney
38	chr1:62943000-62959800	Weak transcription	HUVEC	blood vessel
39	chr1:62943400-62959800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:62943600-62979400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:62945400-62962800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:62947200-62970000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:62947200-62978600	Weak transcription	Ovary	ovary
44	chr1:62947400-62970000	Weak transcription	Brain Anterior Caudate	brain
45	chr1:62949200-62962200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:62950200-62962200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:62950600-62959200	Weak transcription	Primary B cells from cord blood	blood
48	chr1:62951200-62958800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:62951200-62980400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:62952000-62963000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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