Variant report

Variant	rs6787364
Chromosome Location	chr3:120437310-120437311
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:120430126..120433009-chr3:120435075..120437725,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10511403	0.83[CHB][hapmap];0.89[CHD][hapmap];0.83[JPT][hapmap]
rs11706997	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11709002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11709661	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12485282	0.83[CHB][hapmap];0.89[CHD][hapmap];0.83[JPT][hapmap]
rs12491957	0.83[CHB][hapmap];0.89[CHD][hapmap];0.83[JPT][hapmap]
rs12493166	0.82[ASN][1000 genomes]
rs1505700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1505701	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs16831698	0.86[CHB][hapmap]
rs2331541	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs378759	0.86[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs55741444	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57704109	0.81[ASN][1000 genomes]
rs6772101	0.85[ASN][1000 genomes]
rs9829072	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9857158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv829699	chr3:120308332-120484695	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv877378	chr3:120381530-120606438	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120398200-120438000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr3:120398800-120442200	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:120402800-120456600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:120412800-120438000	Weak transcription	Fetal Intestine Small	intestine
5	chr3:120415000-120438000	Weak transcription	HepG2	liver
6	chr3:120416400-120437800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:120416400-120460600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:120416600-120438000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:120416800-120460600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:120417600-120456600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr3:120419000-120450800	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:120422000-120438000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:120422000-120438000	Weak transcription	Fetal Stomach	stomach
14	chr3:120422000-120438000	Weak transcription	Fetal Thymus	thymus
15	chr3:120422000-120438000	Weak transcription	Left Ventricle	heart
16	chr3:120422200-120438000	Weak transcription	Adipose Nuclei	Adipose
17	chr3:120422200-120438000	Weak transcription	Fetal Kidney	kidney
18	chr3:120422200-120441000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr3:120422200-120446800	Weak transcription	Ovary	ovary
20	chr3:120422400-120438000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:120422400-120444200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:120422600-120437800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:120423000-120460200	Weak transcription	HUVEC	blood vessel
24	chr3:120423400-120437400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:120423400-120438000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:120423400-120441000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:120423600-120438000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:120423600-120447200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:120424400-120438000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr3:120424400-120446800	Weak transcription	Fetal Intestine Large	intestine
31	chr3:120424600-120450200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr3:120424800-120437400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr3:120424800-120438000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr3:120425000-120438000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:120425000-120451200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr3:120425000-120456600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:120425600-120446600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:120428200-120438000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr3:120428400-120437800	Weak transcription	Primary B cells from cord blood	blood
40	chr3:120428400-120446800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:120428400-120448000	Weak transcription	Osteobl	bone
42	chr3:120428600-120438000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:120428600-120449200	Weak transcription	Placenta	Placenta
44	chr3:120428800-120438000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr3:120428800-120438000	Weak transcription	Fetal Lung	lung
46	chr3:120428800-120440800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr3:120429200-120456200	Weak transcription	Liver	Liver
48	chr3:120430000-120446600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:120434000-120438000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:120436600-120437800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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