Variant report

Variant	rs6033660
Chromosome Location	chr20:1381196-1381197
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1370285..1375864-chr20:1379539..1381577,4	K562	blood:

Variant related genes	Relation type
ENSG00000088832	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10485824	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11087048	1.00[ASN][1000 genomes]
rs11697322	1.00[CHB][hapmap]
rs11697395	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11697973	1.00[ASN][1000 genomes]
rs11697987	1.00[ASN][1000 genomes]
rs11698000	1.00[ASN][1000 genomes]
rs11699494	1.00[CHB][hapmap]
rs13163	1.00[CHB][hapmap]
rs13433171	1.00[ASN][1000 genomes]
rs16994239	1.00[CHB][hapmap]
rs16994549	1.00[CHB][hapmap]
rs16995146	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16995228	1.00[ASN][1000 genomes]
rs16995310	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16995332	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17793560	1.00[CHB][hapmap]
rs17794135	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1883933	1.00[CHB][hapmap]
rs1884390	1.00[CHB][hapmap]
rs2064645	1.00[CHB][hapmap]
rs2064646	1.00[CHB][hapmap]
rs2249832	1.00[CHB][hapmap]
rs2250091	1.00[CHB][hapmap]
rs2253429	1.00[CHB][hapmap]
rs2253431	1.00[CHB][hapmap]
rs2253693	1.00[CHB][hapmap]
rs2253698	1.00[CHB][hapmap]
rs2256095	1.00[CHB][hapmap]
rs2256229	1.00[CHB][hapmap]
rs2256240	1.00[CHB][hapmap]
rs2256243	1.00[CHB][hapmap]
rs2256250	1.00[CHB][hapmap]
rs2256251	1.00[CHB][hapmap]
rs2263656	1.00[CHB][hapmap]
rs2873522	1.00[CHB][hapmap]
rs33999287	1.00[ASN][1000 genomes]
rs35442028	1.00[ASN][1000 genomes]
rs4536713	1.00[ASN][1000 genomes]
rs45512895	1.00[ASN][1000 genomes]
rs4577347	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4813115	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4814102	1.00[CHB][hapmap]
rs56035174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57806058	1.00[ASN][1000 genomes]
rs59377624	1.00[ASN][1000 genomes]
rs59681252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033534	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6033554	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6033672	1.00[ASN][1000 genomes]
rs6033871	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6033896	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6033914	1.00[CHB][hapmap]
rs6033935	1.00[CHB][hapmap]
rs6041382	1.00[ASN][1000 genomes]
rs6041689	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6041716	1.00[CHB][hapmap]
rs6041717	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6042000	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042506	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6042550	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6042568	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6042574	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6042578	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6042585	1.00[CHB][hapmap]
rs6042588	1.00[CHB][hapmap]
rs6042676	1.00[CHB][hapmap]
rs6042689	1.00[CHB][hapmap]
rs6078575	1.00[CHB][hapmap]
rs6105031	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6105101	1.00[CHB][hapmap]
rs6109437	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6109511	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6109522	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6109740	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6109784	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6109984	1.00[CHB][hapmap]
rs6109989	1.00[CHB][hapmap]
rs6110189	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6110193	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs62187542	1.00[ASN][1000 genomes]
rs62187543	1.00[ASN][1000 genomes]
rs62623705	1.00[ASN][1000 genomes]
rs6514337	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6514364	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs715217	1.00[CHB][hapmap]
rs7271240	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7274052	1.00[ASN][1000 genomes]
rs73067251	1.00[ASN][1000 genomes]
rs73069188	1.00[ASN][1000 genomes]
rs73076965	1.00[ASN][1000 genomes]
rs73076966	1.00[ASN][1000 genomes]
rs73579382	1.00[ASN][1000 genomes]
rs73581208	1.00[ASN][1000 genomes]
rs747611	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8117563	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8117744	1.00[ASN][1000 genomes]
rs8118276	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8119259	1.00[ASN][1000 genomes]
rs912113	1.00[CHB][hapmap]
rs958839	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522008	chr20:1340390-1638578	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3400839	chr20:1377767-1383335	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3454734	chr20:1380804-1384028	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3454733	chr20:1380917-1383913	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3454735	chr20:1380931-1383912	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1374400-1381400	Weak transcription	Gastric	stomach
2	chr20:1374800-1382800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr20:1374800-1383000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr20:1377600-1383000	Enhancers	HUVEC	blood vessel
5	chr20:1377800-1382800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr20:1377800-1382800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr20:1378000-1382800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr20:1378000-1382800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr20:1378000-1383000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr20:1378600-1383600	Enhancers	Fetal Intestine Large	intestine
11	chr20:1378600-1384400	Enhancers	Fetal Intestine Small	intestine
12	chr20:1378800-1383200	Enhancers	Duodenum Mucosa	Duodenum
13	chr20:1379000-1382000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr20:1379200-1382800	Weak transcription	Dnd41	blood
15	chr20:1379600-1381400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr20:1379600-1382800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr20:1379600-1383400	Enhancers	HMEC	breast
18	chr20:1379600-1383800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr20:1379800-1381400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr20:1380000-1381200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr20:1380000-1384400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr20:1380200-1381200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr20:1380200-1381400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr20:1380200-1381400	Enhancers	Stomach Mucosa	stomach
25	chr20:1380400-1381200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr20:1380400-1381400	Weak transcription	Colonic Mucosa	Colon
27	chr20:1380400-1382200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr20:1380400-1382600	Enhancers	HSMM	muscle
29	chr20:1380400-1382600	Enhancers	NH-A	brain
30	chr20:1380400-1383200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr20:1380400-1383400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr20:1380400-1383600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr20:1380400-1383600	Enhancers	Osteobl	bone
34	chr20:1380600-1381200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr20:1380600-1381400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr20:1380600-1381400	Enhancers	NHLF	lung
37	chr20:1380600-1381600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr20:1380600-1381800	Weak transcription	Small Intestine	intestine
39	chr20:1380600-1382400	Enhancers	NHDF-Ad	bronchial
40	chr20:1380600-1383600	Enhancers	Liver	Liver
41	chr20:1380600-1383800	Enhancers	NHEK	skin
42	chr20:1380600-1388400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr20:1380800-1381200	Weak transcription	Placenta	Placenta
44	chr20:1380800-1381600	Enhancers	Psoas Muscle	Psoas
45	chr20:1380800-1382000	Bivalent Enhancer	Fetal Muscle Leg	muscle
46	chr20:1380800-1382800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr20:1380800-1383600	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr20:1381000-1381200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr20:1381000-1381200	Flanking Active TSS	Hela-S3	cervix
50	chr20:1381000-1381400	Enhancers	HepG2	liver

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