Variant report

Variant	rs1170672
Chromosome Location	chr3:178968660-178968661
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1048931	0.82[AFR][1000 genomes]
rs11920864	1.00[JPT][hapmap]
rs17849079	0.82[AFR][1000 genomes]
rs4854957	0.89[EUR][1000 genomes]
rs57620676	1.00[ASN][1000 genomes]
rs60976095	1.00[ASN][1000 genomes]
rs73882973	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv3354111	chr3:178833305-179156908	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv1002962	chr3:178943753-179224548	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv536815	chr3:178943753-179224548	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1003021	chr3:178944806-179246179	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1006584	chr3:178944822-179241429	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv829806	chr3:178952363-179154373	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	esv1800747	chr3:178962897-178977074	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1010137	chr3:178962897-179050787	Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
11	nsv471116	chr3:178968634-179252263	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv592650	chr3:178968634-179252263	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178912400-178978600	Weak transcription	Right Ventricle	heart
2	chr3:178913800-178969000	Weak transcription	Small Intestine	intestine
3	chr3:178914800-178972800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:178932200-178974000	Weak transcription	Lung	lung
5	chr3:178941800-178972600	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:178945800-178978400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:178948800-178978600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:178949000-178970800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:178949000-178978200	Weak transcription	NHLF	lung
10	chr3:178949000-178978600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:178949000-178978600	Weak transcription	Ovary	ovary
12	chr3:178949000-178978800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr3:178949200-178978400	Weak transcription	Brain Anterior Caudate	brain
14	chr3:178949200-178978600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:178949200-178978600	Weak transcription	Osteobl	bone
16	chr3:178949800-178969000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:178952000-178978400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:178952200-178970400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr3:178952200-178973000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:178952400-178971200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:178952400-178971400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:178952400-178978600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr3:178952600-178976600	Weak transcription	Colon Smooth Muscle	Colon
24	chr3:178954600-178970800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr3:178954600-178972400	Weak transcription	Fetal Intestine Small	intestine
26	chr3:178955000-178973800	Weak transcription	HSMMtube	muscle
27	chr3:178955200-178974400	Weak transcription	GM12878-XiMat	blood
28	chr3:178955400-178970600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr3:178956200-178977000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:178959800-178978800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:178963000-178968800	Weak transcription	Primary B cells from cord blood	blood
32	chr3:178963200-178970000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr3:178963200-178970600	Weak transcription	Placenta	Placenta
34	chr3:178963200-178971000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:178963200-178978200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr3:178963200-178978600	Weak transcription	Left Ventricle	heart
37	chr3:178963200-178978800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:178963800-178978800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:178965400-178969000	Strong transcription	Stomach Smooth Muscle	stomach
40	chr3:178965400-178970000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:178966000-178971400	Weak transcription	Fetal Muscle Leg	muscle
42	chr3:178966200-178978600	Weak transcription	HUVEC	blood vessel
43	chr3:178967000-178968800	Weak transcription	Brain Germinal Matrix	brain
44	chr3:178967200-178969400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:178967200-178969400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr3:178967400-178968800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:178967400-178968800	Strong transcription	Adipose Nuclei	Adipose
48	chr3:178967400-178969200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr3:178967400-178969400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:178967400-178969600	Strong transcription	Aorta	Aorta

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