Variant report

Variant	rs1168116
Chromosome Location	chr1:63149840-63149841
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:63149775-63149979	K562	blood:	n/a	n/a
2	CEBPB	chr1:63149752-63149915	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:63143255..63144801-chr1:63148236..63149930,2	K562	blood:
2	chr1:63146446..63150617-chr1:63151147..63154830,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235545	TF binding region
ENSG00000116641	Chromatin interaction
ENSG00000235545	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10789121	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2031373	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7538689	0.87[AMR][1000 genomes];0.82[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1168116	DOCK7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63107400-63151200	Weak transcription	Pancreas	Pancrea
2	chr1:63108800-63151200	Weak transcription	Fetal Stomach	stomach
3	chr1:63109200-63150200	Weak transcription	Fetal Brain Male	brain
4	chr1:63111400-63150200	Weak transcription	Fetal Lung	lung
5	chr1:63112400-63152400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:63113600-63151000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:63113600-63152800	Weak transcription	Primary B cells from cord blood	blood
8	chr1:63118000-63150800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:63119800-63150200	Weak transcription	Adipose Nuclei	Adipose
10	chr1:63128800-63150800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:63138000-63153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:63138400-63151000	Weak transcription	Fetal Intestine Large	intestine
13	chr1:63138600-63150800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:63138800-63150000	Weak transcription	Stomach Mucosa	stomach
15	chr1:63141400-63152600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:63142800-63152400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:63143000-63150800	Weak transcription	Ovary	ovary
18	chr1:63143000-63151400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:63143000-63152400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:63143000-63153000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:63143200-63150800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:63143200-63150800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:63143200-63151200	Weak transcription	Aorta	Aorta
24	chr1:63143200-63151200	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:63143400-63150000	Weak transcription	NHLF	lung
26	chr1:63143400-63150800	Weak transcription	Fetal Heart	heart
27	chr1:63143800-63150200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:63147400-63151000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:63147600-63150600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:63147600-63150600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:63147600-63150800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:63147600-63151000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:63147600-63152600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr1:63147800-63151200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:63148000-63150000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:63148000-63150000	Weak transcription	Liver	Liver
37	chr1:63148000-63150600	Enhancers	Brain Germinal Matrix	brain
38	chr1:63148000-63150800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:63148200-63150800	Weak transcription	Gastric	stomach
40	chr1:63148200-63152600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:63148400-63150000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:63148400-63150200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:63148400-63150800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:63148400-63152600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:63148600-63150000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:63148600-63150000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:63148600-63150200	Weak transcription	A549	lung
48	chr1:63148600-63150200	Weak transcription	GM12878-XiMat	blood
49	chr1:63148600-63150600	Weak transcription	NH-A	brain
50	chr1:63148600-63150800	Weak transcription	Rectal Smooth Muscle	rectum

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