Variant report

Variant	rs6127138
Chromosome Location	chr20:52828384-52828385
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52828139..52830421-chr20:52867802..52870062,3	MCF-7	breast:
2	chr20:52827335..52828906-chr20:52829240..52830744,2	K562	blood:
3	chr20:52827687..52829206-chr20:52859776..52862420,2	MCF-7	breast:
4	chr20:52826695..52829423-chr20:53117360..53120091,2	MCF-7	breast:
5	chr20:52827870..52830545-chr20:52871348..52873782,2	MCF-7	breast:
6	chr20:52589616..52592279-chr20:52827427..52830367,2	MCF-7	breast:
7	chr20:52828137..52830377-chr20:52920619..52922992,2	MCF-7	breast:
8	chr20:52828350..52830415-chr20:53280518..53282559,2	MCF-7	breast:

No data

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1418925	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2585417	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2585418	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs292113	0.90[ASN][1000 genomes]
rs292118	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs3479	0.93[ASN][1000 genomes]
rs368933	0.89[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs391235	0.90[ASN][1000 genomes]
rs422257	0.90[ASN][1000 genomes]
rs441506	0.87[ASN][1000 genomes]
rs51301	0.96[ASN][1000 genomes]
rs6013925	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6023044	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs6091837	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834010	chr20:52759824-52932939	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52825400-52828400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr20:52825400-52829800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:52825400-52838800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr20:52825600-52833800	Weak transcription	Lung	lung
5	chr20:52825600-52839000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr20:52825800-52831400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr20:52826000-52828400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr20:52826000-52828800	Weak transcription	Aorta	Aorta
9	chr20:52826000-52831200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr20:52826000-52831400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr20:52826000-52831400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr20:52826000-52833400	Weak transcription	Esophagus	oesophagus
13	chr20:52826000-52833600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr20:52826000-52837200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr20:52826000-52837800	Weak transcription	Fetal Thymus	thymus
16	chr20:52826000-52838200	Weak transcription	Pancreas	Pancrea
17	chr20:52826000-52840000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr20:52826200-52828600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr20:52826200-52828800	Weak transcription	HSMMtube	muscle
20	chr20:52826200-52828800	Weak transcription	HUVEC	blood vessel
21	chr20:52826200-52831000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr20:52826200-52831200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr20:52826200-52831200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr20:52826200-52831200	Weak transcription	Primary B cells from cord blood	blood
25	chr20:52826200-52831200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr20:52826200-52831200	Weak transcription	Fetal Intestine Large	intestine
27	chr20:52826200-52831400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr20:52826200-52831400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr20:52826200-52831800	Weak transcription	Fetal Kidney	kidney
30	chr20:52826200-52836000	Weak transcription	Colonic Mucosa	Colon
31	chr20:52826200-52838800	Weak transcription	Gastric	stomach
32	chr20:52826400-52828800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr20:52826400-52828800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr20:52826400-52829200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr20:52826400-52831200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr20:52826400-52831600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr20:52826400-52831600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr20:52826400-52831800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr20:52826600-52828400	Genic enhancers	HepG2	liver
40	chr20:52826600-52828600	Weak transcription	HSMM	muscle
41	chr20:52826600-52828800	Weak transcription	Right Ventricle	heart
42	chr20:52826600-52829200	Weak transcription	K562	blood
43	chr20:52826600-52830800	Weak transcription	NHEK	skin
44	chr20:52826600-52831200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr20:52826600-52831200	Weak transcription	HMEC	breast
46	chr20:52826600-52831600	Weak transcription	Placenta	Placenta
47	chr20:52826600-52831600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr20:52826600-52832200	Weak transcription	Left Ventricle	heart
49	chr20:52826600-52832400	Weak transcription	GM12878-XiMat	blood
50	chr20:52826600-52833600	Weak transcription	Spleen	Spleen

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