Variant report

Variant	rs3769178
Chromosome Location	chr2:174038395-174038396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1345008	1.00[CHB][hapmap]
rs1439976	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17302439	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17302684	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17375006	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17761097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769198	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3769202	1.00[ASN][1000 genomes]
rs3769209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3769221	1.00[CEU][hapmap]
rs3820834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41268711	1.00[AMR][1000 genomes]
rs4972540	1.00[YRI][hapmap]
rs7585076	1.00[ASN][1000 genomes]
rs7585396	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174015400-174047000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:174016200-174048800	Weak transcription	K562	blood
3	chr2:174026000-174069000	Weak transcription	Primary B cells from cord blood	blood
4	chr2:174026200-174040600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:174026200-174045000	Weak transcription	Fetal Intestine Small	intestine
6	chr2:174026400-174039600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:174026400-174047600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:174026600-174048800	Weak transcription	Liver	Liver
9	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
10	chr2:174028200-174044200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:174028400-174054600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:174030000-174052200	Weak transcription	Fetal Lung	lung
13	chr2:174031200-174046600	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:174032400-174048800	Weak transcription	Dnd41	blood
15	chr2:174035800-174038400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:174037000-174047600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr2:174037000-174053000	Weak transcription	Right Atrium	heart
18	chr2:174037200-174048400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:174037400-174039600	Weak transcription	Fetal Heart	heart
20	chr2:174037400-174039800	Weak transcription	Stomach Mucosa	stomach
21	chr2:174037400-174047600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:174037400-174048800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:174037400-174048800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:174037400-174048800	Weak transcription	NHEK	skin
25	chr2:174037400-174054600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:174037600-174039600	Weak transcription	A549	lung
27	chr2:174037600-174039800	Weak transcription	Osteobl	bone
28	chr2:174037800-174046600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:174038000-174038400	Enhancers	Stomach Smooth Muscle	stomach
30	chr2:174038000-174038600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:174038200-174040000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:174038200-174049000	Weak transcription	Left Ventricle	heart

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