Variant report

Variant	rs3769210
Chromosome Location	chr2:173914775-173914776
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:173914420..173916630-chr2:173929011..173931353,2	MCF-7	breast:
2	chr2:173914253..173918906-chr2:173919243..173923517,5	MCF-7	breast:
3	chr2:173913769..173915858-chr2:173923685..173926368,2	K562	blood:
4	chr2:173907898..173920360-chr2:173936226..173946823,30	MCF-7	breast:
5	chr2:173911461..173914439-chr2:173914494..173916469,2	MCF-7	breast:
6	chr2:173914464..173920190-chr2:173936598..173942304,10	MCF-7	breast:
7	chr2:173913477..173915718-chr2:173932935..173935387,2	MCF-7	breast:
8	chr2:173913929..173916714-chr2:173923996..173927422,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction
ENSG00000265709	Chromatin interaction
ENSG00000091428	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10187560	0.90[CEU][hapmap];0.82[TSI][hapmap]
rs1020599	0.80[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs10497403	0.81[CHB][hapmap];0.82[CHD][hapmap];0.80[GIH][hapmap]
rs12464956	0.81[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs1551248	1.00[CEU][hapmap];0.80[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1551249	0.84[CEU][hapmap];0.80[CHD][hapmap];0.84[GIH][hapmap];0.80[TSI][hapmap]
rs1973037	0.84[CEU][hapmap];0.80[CHD][hapmap];0.84[GIH][hapmap];0.80[TSI][hapmap]
rs2012213	1.00[CEU][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3769201	0.83[CHB][hapmap]
rs3769211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769213	0.84[CEU][hapmap]
rs3769215	0.82[GIH][hapmap]
rs6717489	0.81[ASN][1000 genomes]
rs6717529	0.84[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs6717735	0.84[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs6742219	0.87[CEU][hapmap]

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	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3769210	FASTKD1	cis	cerebellum	SCAN
rs3769210	DCAF17	cis	parietal	SCAN
rs3769210	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173893200-173922000	Weak transcription	Brain Anterior Caudate	brain
2	chr2:173901000-173918000	Weak transcription	Brain Angular Gyrus	brain
3	chr2:173904400-173921400	Weak transcription	Ovary	ovary
4	chr2:173908600-173916800	Enhancers	Fetal Intestine Large	intestine
5	chr2:173908600-173921400	Weak transcription	Left Ventricle	heart
6	chr2:173908800-173924200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:173909000-173916800	Enhancers	Fetal Intestine Small	intestine
8	chr2:173909800-173915000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:173909800-173915200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:173911800-173918200	Weak transcription	Fetal Heart	heart
11	chr2:173912800-173914800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:173912800-173915200	Enhancers	HepG2	liver
13	chr2:173912800-173915600	Enhancers	Stomach Mucosa	stomach
14	chr2:173912800-173916000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:173912800-173917000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:173913000-173914800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:173913000-173915000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:173913000-173915200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:173913000-173915200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr2:173913000-173915200	Enhancers	Rectal Smooth Muscle	rectum
21	chr2:173913000-173915200	Enhancers	HSMM	muscle
22	chr2:173913000-173917000	Enhancers	Colon Smooth Muscle	Colon
23	chr2:173913600-173916000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:173913600-173916800	Enhancers	HMEC	breast
25	chr2:173913800-173914800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:173914000-173914800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:173914000-173915000	Enhancers	Duodenum Mucosa	Duodenum
28	chr2:173914000-173915400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr2:173914200-173914800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr2:173914200-173914800	Flanking Active TSS	NH-A	brain
31	chr2:173914200-173915200	Enhancers	Adipose Nuclei	Adipose
32	chr2:173914200-173916000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:173914200-173916800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:173914400-173914800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr2:173914400-173914800	Enhancers	Liver	Liver
36	chr2:173914400-173914800	Flanking Active TSS	NHEK	skin
37	chr2:173914400-173915200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:173914400-173915200	Flanking Active TSS	A549	lung
39	chr2:173914400-173915400	Flanking Active TSS	Hela-S3	cervix
40	chr2:173914400-173915400	Enhancers	HUVEC	blood vessel
41	chr2:173914400-173915800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:173914400-173917800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:173914600-173914800	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr2:173914600-173915000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:173914600-173915000	Weak transcription	Small Intestine	intestine
46	chr2:173914600-173915200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:173914600-173915200	Enhancers	Fetal Lung	lung
48	chr2:173914600-173915200	Enhancers	Osteobl	bone
49	chr2:173914600-173915400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:173914600-173915400	Enhancers	HSMMtube	muscle

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