Variant report

Variant	rs6068688
Chromosome Location	chr20:52456926-52456927
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:70148331..70150466-chr20:52456396..52458617,2	MCF-7	breast:
2	chr20:52455663..52458624-chr20:52464778..52466415,2	K562	blood:
3	chr20:52455023..52457769-chr20:52462367..52464597,2	K562	blood:

Variant related genes	Relation type
ENSG00000127328	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10432728	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4809941	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4809942	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4811476	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6022793	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6064010	0.87[ASN][1000 genomes]
rs6068690	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6068691	0.93[EUR][1000 genomes]
rs6091756	0.82[ASN][1000 genomes]
rs6097632	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6123320	0.84[ASN][1000 genomes]
rs6126982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6126985	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6126986	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs720387	0.96[EUR][1000 genomes];0.91[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	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv834008	chr20:52368660-52533410	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	185 gene(s)	inside rSNPs	diseases
3	nsv834009	chr20:52386050-52590795	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	182 gene(s)	inside rSNPs	diseases
4	nsv1060372	chr20:52409008-52502100	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	122 gene(s)	inside rSNPs	diseases
5	esv1831516	chr20:52437245-52514913	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	98 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	chr20:52447400-52459400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr20:52449600-52457800	Enhancers	Primary B cells from cord blood	blood
3	chr20:52449800-52461000	Enhancers	Primary B cells from peripheral blood	blood
4	chr20:52450000-52462000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr20:52450400-52457800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr20:52450400-52465200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr20:52450600-52465200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr20:52451000-52457000	Weak transcription	NHDF-Ad	bronchial
9	chr20:52451000-52462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr20:52451200-52457000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr20:52451200-52457200	Weak transcription	NHEK	skin
12	chr20:52451200-52464000	Weak transcription	HSMM	muscle
13	chr20:52452400-52463800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr20:52452400-52465200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr20:52452600-52461400	Weak transcription	Osteobl	bone
16	chr20:52453600-52457200	Enhancers	Stomach Mucosa	stomach
17	chr20:52453600-52458000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr20:52453600-52480200	Weak transcription	Small Intestine	intestine
19	chr20:52454400-52457000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr20:52454400-52464200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr20:52454800-52457400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr20:52454800-52457400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr20:52454800-52457800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr20:52455000-52457000	Enhancers	Fetal Thymus	thymus
25	chr20:52455000-52457200	Enhancers	Dnd41	blood
26	chr20:52455000-52457400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr20:52455000-52459000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr20:52455000-52464800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr20:52455400-52457000	Enhancers	Colonic Mucosa	Colon
30	chr20:52455600-52457400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr20:52455800-52457000	Enhancers	Primary hematopoietic stem cells	blood
32	chr20:52455800-52457000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr20:52456000-52457200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr20:52456000-52457400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr20:52456200-52457400	Enhancers	HUVEC	blood vessel
36	chr20:52456200-52457600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr20:52456400-52457000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr20:52456400-52457200	Enhancers	Duodenum Mucosa	Duodenum
39	chr20:52456400-52457400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr20:52456400-52457400	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr20:52456400-52457600	Enhancers	Primary T cells from cord blood	blood
42	chr20:52456400-52458000	Enhancers	GM12878-XiMat	blood
43	chr20:52456400-52463200	Weak transcription	Spleen	Spleen
44	chr20:52456600-52457000	Enhancers	HepG2	liver
45	chr20:52456600-52457600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr20:52456600-52459000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr20:52456600-52459200	Weak transcription	Thymus	Thymus
48	chr20:52456600-52463800	Weak transcription	Fetal Lung	lung
49	chr20:52456600-52468400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr20:52456600-52476200	Weak transcription	Gastric	stomach

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