Variant report

Variant	rs532008
Chromosome Location	chr6:149655912-149655913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149654386..149656937-chr6:149663609..149665737,2	K562	blood:
2	chr6:149654628..149657508-chr6:149659280..149661788,2	MCF-7	breast:
3	chr6:149637223..149641886-chr6:149650956..149658366,12	K562	blood:
4	chr6:149352806..149354632-chr6:149655846..149657368,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000055208	Chromatin interaction
ENSG00000236591	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs17086451	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2341783	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341784	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744427	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744428	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744431	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2744433	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2744434	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2789487	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2789489	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2789490	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2789500	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3734296	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4360154	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs472620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs472810	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs474369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs478531	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs478767	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs480526	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs480778	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs481769	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4897117	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs490529	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs492956	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494340	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501926	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504762	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511105	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs513923	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs515133	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs518879	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs522646	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527971	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs532250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs533026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538386	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554926	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs556335	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs559052	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs559204	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs564405	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs565825	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs570442	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588028	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60006373	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs600739	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs630642	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs641068	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs652514	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs652921	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs663625	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674919	0.80[EUR][1000 genomes]
rs681919	0.84[EUR][1000 genomes]
rs92605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9373591	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9377216	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9377217	0.80[EUR][1000 genomes]
rs9390676	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9399686	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9404032	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9404034	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9404035	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9404037	0.82[EUR][1000 genomes];0.80[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	nsv1024106	chr6:149622349-149745053	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv522875	chr6:149643709-149762537	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv517889	chr6:149653792-149658118	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149641200-149657400	Weak transcription	Aorta	Aorta
2	chr6:149641200-149681400	Weak transcription	Fetal Stomach	stomach
3	chr6:149641600-149656000	Weak transcription	Lung	lung
4	chr6:149641600-149660200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr6:149641800-149660200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr6:149642600-149657200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:149645000-149666400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:149646200-149657400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:149648400-149660600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:149648600-149656600	Enhancers	Fetal Heart	heart
11	chr6:149648600-149659200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr6:149648600-149659600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr6:149648800-149656000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:149649000-149657200	Weak transcription	Fetal Intestine Large	intestine
15	chr6:149649000-149660200	Weak transcription	Fetal Intestine Small	intestine
16	chr6:149649200-149657200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:149649400-149659000	Enhancers	Primary T cells from cord blood	blood
18	chr6:149649400-149689400	Weak transcription	Fetal Brain Female	brain
19	chr6:149649800-149660200	Weak transcription	Gastric	stomach
20	chr6:149650600-149656000	Weak transcription	Colonic Mucosa	Colon
21	chr6:149650800-149657400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr6:149651400-149660000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:149651400-149660000	Enhancers	Liver	Liver
24	chr6:149651600-149656000	Enhancers	Brain Hippocampus Middle	brain
25	chr6:149651600-149657200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr6:149651600-149659200	Enhancers	Dnd41	blood
27	chr6:149651800-149658400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr6:149652000-149659000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:149652000-149659400	Enhancers	Brain Anterior Caudate	brain
30	chr6:149652200-149657200	Enhancers	Colon Smooth Muscle	Colon
31	chr6:149652200-149658800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:149652400-149659600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:149652600-149656000	Enhancers	Brain Substantia Nigra	brain
34	chr6:149652600-149657400	Enhancers	HMEC	breast
35	chr6:149652600-149658000	Enhancers	Adipose Nuclei	Adipose
36	chr6:149652600-149658200	Enhancers	NHDF-Ad	bronchial
37	chr6:149652600-149659000	Enhancers	Osteobl	bone
38	chr6:149652600-149659400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:149652600-149659400	Enhancers	Rectal Smooth Muscle	rectum
40	chr6:149652600-149659600	Enhancers	NH-A	brain
41	chr6:149652600-149659800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:149652800-149656400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:149652800-149657400	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr6:149652800-149657800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:149652800-149660000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:149653000-149656200	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr6:149653000-149657200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr6:149653000-149657800	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr6:149653000-149657800	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr6:149653200-149656000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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