Variant report

Variant	rs34640648
Chromosome Location	chr1:169367871-169367872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169363269..169365266-chr1:169367448..169370534,3	K562	blood:
2	chr1:169353969..169356305-chr1:169367810..169369890,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1028180	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12725912	0.82[EUR][1000 genomes]
rs12727318	0.80[AMR][1000 genomes]
rs12729761	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12733001	0.82[EUR][1000 genomes]
rs12733037	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12735250	0.82[EUR][1000 genomes]
rs12743782	0.82[EUR][1000 genomes]
rs12744859	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12745541	0.91[EUR][1000 genomes]
rs12752953	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12757669	0.82[EUR][1000 genomes]
rs1533518	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1533519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16862081	0.82[EUR][1000 genomes]
rs16862097	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16862133	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16862153	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16862176	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16862180	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16862217	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1883167	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2037249	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066001	0.82[EUR][1000 genomes]
rs2203743	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2271762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272801	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213586	0.82[EUR][1000 genomes]
rs3213587	0.82[EUR][1000 genomes]
rs34057682	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34373126	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34599582	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34689938	0.82[EUR][1000 genomes]
rs34848249	0.82[EUR][1000 genomes]
rs34858340	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34989506	0.80[AMR][1000 genomes]
rs35171152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35244822	0.82[EUR][1000 genomes]
rs35435858	0.82[EUR][1000 genomes]
rs35448601	0.82[EUR][1000 genomes]
rs35493809	0.82[EUR][1000 genomes]
rs35639586	0.82[EUR][1000 genomes]
rs35653716	0.82[EUR][1000 genomes]
rs35680826	0.82[EUR][1000 genomes]
rs35686518	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35918529	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36023090	0.82[EUR][1000 genomes]
rs36179730	0.82[EUR][1000 genomes]
rs3765229	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3766097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3862937	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4140538	0.82[EUR][1000 genomes]
rs4140539	0.82[EUR][1000 genomes]
rs4551642	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4590731	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57295069	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58809384	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66512221	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66937324	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67795749	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71635619	0.82[EUR][1000 genomes]
rs72637232	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription 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	56 gene(s)	inside rSNPs	diseases
2	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169338200-169369000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:169350200-169368600	Weak transcription	Colonic Mucosa	Colon
3	chr1:169353000-169369800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:169354000-169370000	Weak transcription	Aorta	Aorta
5	chr1:169354800-169370600	Weak transcription	Fetal Kidney	kidney
6	chr1:169357000-169368200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:169358200-169368000	Weak transcription	Esophagus	oesophagus
8	chr1:169359200-169368400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:169359600-169369800	Weak transcription	NHDF-Ad	bronchial
10	chr1:169360600-169372200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:169360800-169369200	Weak transcription	Fetal Intestine Small	intestine
12	chr1:169360800-169370600	Weak transcription	NHLF	lung
13	chr1:169360800-169395200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:169361400-169368000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:169361400-169369400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:169362200-169370000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:169362200-169370000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:169362200-169371200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:169362400-169368000	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:169362400-169368800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:169362400-169369800	Weak transcription	Fetal Thymus	thymus
22	chr1:169362400-169370000	Weak transcription	Brain Germinal Matrix	brain
23	chr1:169362400-169370000	Weak transcription	Fetal Brain Female	brain
24	chr1:169362600-169369600	Weak transcription	Primary T cells from cord blood	blood
25	chr1:169363200-169368200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:169363400-169368800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:169363400-169371200	Weak transcription	Ovary	ovary
28	chr1:169363600-169368800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:169363800-169368600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:169364000-169369000	Weak transcription	Brain Angular Gyrus	brain
31	chr1:169364200-169368600	Weak transcription	HMEC	breast
32	chr1:169364400-169375600	Weak transcription	Brain Anterior Caudate	brain
33	chr1:169364600-169369000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:169364800-169368200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:169364800-169368600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:169365400-169368200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:169365400-169368800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:169365400-169369000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:169365400-169370200	Weak transcription	NH-A	brain
40	chr1:169365600-169370800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr1:169365600-169371000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:169365600-169371200	Weak transcription	Fetal Lung	lung
43	chr1:169365800-169372400	Weak transcription	HSMM	muscle
44	chr1:169366000-169368400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:169366000-169368800	Weak transcription	Placenta	Placenta
46	chr1:169366000-169369000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:169366000-169369200	Weak transcription	Adipose Nuclei	Adipose
48	chr1:169366000-169369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:169366000-169370400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:169366200-169369000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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