Variant report

Variant	rs1001674
Chromosome Location	chr3:119114231-119114232
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1000199	0.94[ASN][1000 genomes]
rs10511391	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12485665	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12487191	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12487982	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12488164	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12488535	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12489912	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12490630	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12492315	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12492609	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12492859	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12493175	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12493326	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12493328	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12493965	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12494114	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12494943	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12495539	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12495580	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12495749	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12496277	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12497394	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13062955	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13078312	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13078816	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13081067	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13081197	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13090653	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13093049	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13094625	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13096213	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16829838	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16829850	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16829853	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16829865	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16829896	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1997341	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2121994	0.84[ASN][1000 genomes]
rs2282170	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2282174	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3088258	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs33958792	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34023538	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34208844	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34250818	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34468255	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34746401	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34834687	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34849715	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35084408	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35169866	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35282209	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35488908	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35563598	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35761622	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3732420	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6641	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6796981	0.83[EUR][1000 genomes]
rs71325376	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71325378	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71325380	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71618009	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv3962	chr3:119094646-119135321	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119072000-119133800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:119080000-119145600	Weak transcription	Fetal Kidney	kidney
3	chr3:119081200-119135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:119082800-119138000	Weak transcription	Small Intestine	intestine
5	chr3:119085200-119139000	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:119088000-119134200	Weak transcription	NHDF-Ad	bronchial
7	chr3:119088200-119122400	Weak transcription	Brain Angular Gyrus	brain
8	chr3:119093000-119116200	Weak transcription	Psoas Muscle	Psoas
9	chr3:119094400-119119600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr3:119097000-119132600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:119097600-119120600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:119098000-119136800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:119098400-119138200	Strong transcription	Adipose Nuclei	Adipose
14	chr3:119098600-119137400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:119099000-119126200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:119099200-119120600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:119099600-119124800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:119100000-119115400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:119100000-119118200	Weak transcription	Fetal Heart	heart
20	chr3:119100000-119132600	Weak transcription	Primary B cells from cord blood	blood
21	chr3:119100200-119114600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:119102600-119133200	Weak transcription	NHLF	lung
23	chr3:119102600-119134800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr3:119103800-119118200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:119105400-119130000	Weak transcription	Fetal Brain Male	brain
26	chr3:119106400-119131200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr3:119106800-119137400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:119107000-119114600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr3:119107200-119123000	Strong transcription	HUVEC	blood vessel
30	chr3:119107600-119115000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:119108400-119114600	Strong transcription	Left Ventricle	heart
32	chr3:119108400-119125600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:119108800-119114800	Strong transcription	Right Ventricle	heart
34	chr3:119108800-119122800	Strong transcription	NH-A	brain
35	chr3:119109000-119118200	Strong transcription	Placenta	Placenta
36	chr3:119109200-119114800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr3:119109200-119136400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr3:119109400-119120800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr3:119109400-119130800	Strong transcription	Osteobl	bone
40	chr3:119110200-119115800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr3:119110200-119120400	Weak transcription	Pancreas	Pancrea
42	chr3:119110200-119128800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:119110200-119140800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr3:119110400-119132200	Weak transcription	Brain Substantia Nigra	brain
45	chr3:119110800-119118000	Weak transcription	Esophagus	oesophagus
46	chr3:119111000-119120400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:119111600-119120400	Weak transcription	Brain Anterior Caudate	brain
48	chr3:119111600-119120600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:119111800-119128000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr3:119111800-119128800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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