Variant report

Variant	rs7646054
Chromosome Location	chr3:56809628-56809629
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	WRNIP1	chr3:56809598-56809903	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ARHGEF3	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2171856	0.96[EUR][1000 genomes]
rs4681859	0.96[CEU][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs6769632	0.93[EUR][1000 genomes]
rs6776400	0.97[EUR][1000 genomes]
rs7627580	0.81[AMR][1000 genomes]
rs7635288	0.97[EUR][1000 genomes]
rs7640777	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs983739	0.96[CEU][hapmap];0.97[TSI][hapmap];0.97[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	nsv876818	chr3:56805376-56924711	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7646054	ABHD6	cis	cerebellum	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56764000-56815800	Weak transcription	Fetal Intestine Small	intestine
2	chr3:56793200-56817400	Weak transcription	Hela-S3	cervix
3	chr3:56796600-56809800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:56796800-56816400	Weak transcription	Colonic Mucosa	Colon
5	chr3:56797600-56811400	Weak transcription	Stomach Mucosa	stomach
6	chr3:56799000-56815800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:56802600-56811800	Strong transcription	Dnd41	blood
8	chr3:56803400-56810400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:56804200-56810000	Strong transcription	Fetal Thymus	thymus
10	chr3:56804200-56810000	Weak transcription	Psoas Muscle	Psoas
11	chr3:56804600-56810200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:56805600-56809800	Strong transcription	HepG2	liver
13	chr3:56805800-56809800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:56805800-56816800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:56806400-56815800	Weak transcription	Esophagus	oesophagus
16	chr3:56806400-56816800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr3:56806400-56817000	Weak transcription	NHEK	skin
18	chr3:56807000-56833200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:56807400-56811000	Enhancers	Fetal Brain Male	brain
20	chr3:56807400-56814000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:56807400-56814600	Genic enhancers	Primary T cells fromperipheralblood	blood
22	chr3:56807400-56816000	Weak transcription	Fetal Intestine Large	intestine
23	chr3:56807600-56810200	Weak transcription	Adipose Nuclei	Adipose
24	chr3:56807600-56811000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr3:56807600-56818000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr3:56807800-56809800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:56807800-56810000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:56807800-56811000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr3:56807800-56811000	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr3:56807800-56811800	Enhancers	GM12878-XiMat	blood
31	chr3:56807800-56817400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:56808000-56809800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr3:56808000-56810000	Weak transcription	Fetal Muscle Leg	muscle
34	chr3:56808000-56810200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:56808000-56810200	Weak transcription	HMEC	breast
36	chr3:56808000-56813000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr3:56808000-56815800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr3:56808000-56815800	Weak transcription	HUVEC	blood vessel
39	chr3:56808200-56809800	Weak transcription	Fetal Heart	heart
40	chr3:56808200-56810200	Weak transcription	Placenta	Placenta
41	chr3:56808200-56810800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:56808200-56816800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:56808400-56809800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:56808400-56810200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
45	chr3:56808600-56809800	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr3:56808600-56816800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr3:56808800-56812200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr3:56809000-56810200	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr3:56809000-56810400	Enhancers	HSMM	muscle
50	chr3:56809000-56810600	Genic enhancers	Primary T cells from cord blood	blood

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