Variant report

Variant	rs6022721
Chromosome Location	chr20:52370212-52370213
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:59)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr20:52223061..52227778-chr20:52367671..52370286,6	K562	blood:
2	chr20:52223061..52228275-chr20:52368059..52371420,6	K562	blood:
3	chr20:52240278..52242625-chr20:52367909..52370614,2	K562	blood:
4	chr20:52369155..52371106-chr20:52522144..52524820,2	K562	blood:
5	chr20:52368008..52370445-chr20:52559869..52562207,2	K562	blood:
6	chr20:52369891..52372575-chr20:52373893..52375402,2	K562	blood:
7	chr20:45833136..45835344-chr20:52367689..52370242,2	MCF-7	breast:
8	chr17:58675932..58677472-chr20:52368187..52370766,2	MCF-7	breast:
9	chr20:52367603..52371397-chr20:52514347..52517077,3	K562	blood:
10	chr20:52206356..52207928-chr20:52368686..52370384,2	K562	blood:
11	chr20:52233205..52235833-chr20:52367781..52370220,2	K562	blood:
12	chr20:52369283..52371652-chr20:52490163..52491937,2	K562	blood:
13	chr20:52208862..52212529-chr20:52366089..52371306,7	K562	blood:
14	chr20:52256624..52259833-chr20:52367378..52371155,4	K562	blood:
15	chr17:56735012..56737885-chr20:52365716..52370823,6	MCF-7	breast:
16	chr20:52368793..52371515-chr20:52386888..52389053,2	K562	blood:
17	chr11:61732849..61735291-chr20:52369497..52371530,2	MCF-7	breast:
18	chr20:52369870..52372693-chr20:55840949..55843440,2	MCF-7	breast:
19	chr20:52191619..52199847-chr20:52365959..52371372,16	K562	blood:
20	chr20:52264699..52267468-chr20:52368036..52370306,2	K562	blood:
21	chr20:52237818..52240274-chr20:52368645..52371139,3	K562	blood:
22	chr20:52362990..52370491-chr20:55839358..55844734,14	MCF-7	breast:
23	chr20:52209768..52212682-chr20:52368745..52371256,5	K562	blood:
24	chr20:52367830..52371084-chr20:52556145..52560376,5	K562	blood:
25	chr20:52227898..52229954-chr20:52367925..52370864,2	K562	blood:
26	chr20:52368321..52370317-chr20:52527628..52529805,2	K562	blood:
27	chr20:52195062..52195563-chr20:52369564..52370449,2	MCF-7	breast:
28	chr20:52254923..52256430-chr20:52368031..52370975,2	K562	blood:
29	chr17:59485471..59489465-chr20:52368439..52371447,3	MCF-7	breast:
30	chr20:52369430..52371413-chr20:55837532..55840478,2	MCF-7	breast:
31	chr20:52369996..52371626-chr20:57267775..57270105,2	MCF-7	breast:
32	chr20:52369629..52371487-chr20:52444483..52447130,3	K562	blood:
33	chr20:52186733..52189763-chr20:52368664..52370371,3	K562	blood:
34	chr20:52369816..52370396-chr9:130829270..130830045,2	Hela-S3	cervix:
35	chr15:71407512..71409291-chr20:52369662..52371749,2	MCF-7	breast:
36	chr20:52368401..52370566-chr20:55825843..55827520,2	MCF-7	breast:
37	chr11:2021935..2024253-chr20:52368282..52370650,2	MCF-7	breast:
38	chr1:152431515..152433296-chr20:52368931..52371205,2	MCF-7	breast:
39	chr20:52370017..52370874-chr7:61969357..61969967,2	MCF-7	breast:
40	chr17:57914976..57917733-chr20:52368863..52370944,3	MCF-7	breast:
41	chr17:57969533..57971535-chr20:52370065..52371597,2	MCF-7	breast:
42	chr20:52238721..52242642-chr20:52368010..52370459,5	K562	blood:
43	chr20:52369645..52371467-chr20:52447319..52448872,2	K562	blood:
44	chr20:52367670..52370398-chr20:52548161..52552939,6	K562	blood:
45	chr20:52186733..52189763-chr20:52367200..52370371,3	K562	blood:
46	chr20:52368844..52370877-chr20:55851737..55854058,2	MCF-7	breast:
47	chr20:52367255..52370382-chr20:52554669..52558202,4	K562	blood:
48	chr20:52367788..52370338-chr20:52820980..52822576,2	MCF-7	breast:
49	chr20:52368902..52371159-chr20:52471406..52474415,3	K562	blood:
50	chr20:52367336..52371354-chr20:52530304..52536216,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108443	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000108423	Chromatin interaction
ENSG00000215440	Chromatin interaction
ENSG00000225362	Chromatin interaction
ENSG00000130600	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000236352	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000235415	Chromatin interaction
ENSG00000171169	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000167996	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000140455	Chromatin interaction
ENSG00000121068	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10439566	1.00[AMR][1000 genomes]
rs16998499	1.00[AMR][1000 genomes]
rs16998502	1.00[AMR][1000 genomes]
rs58979406	1.00[AMR][1000 genomes]
rs7262342	1.00[AMR][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	esv3412883	chr20:52176349-52393416	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
2	nsv834007	chr20:52213864-52404557	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	174 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52355400-52375400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:52364800-52372400	Enhancers	Primary B cells from peripheral blood	blood
3	chr20:52364800-52373600	Enhancers	Primary T cells from cord blood	blood
4	chr20:52365000-52371800	Enhancers	Primary B cells from cord blood	blood
5	chr20:52365000-52373400	Enhancers	Fetal Thymus	thymus
6	chr20:52365200-52374200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr20:52365400-52372000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr20:52366200-52371800	Enhancers	Primary hematopoietic stem cells	blood
9	chr20:52367000-52371000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr20:52367000-52373600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr20:52367200-52371000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr20:52367200-52371200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr20:52367200-52371800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr20:52367200-52373400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr20:52367200-52373400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr20:52367200-52374200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr20:52367400-52371000	Enhancers	HSMM	muscle
18	chr20:52367400-52371200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr20:52367400-52371400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr20:52367400-52371400	Enhancers	Fetal Intestine Small	intestine
21	chr20:52367400-52371400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr20:52367400-52371400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr20:52367400-52371800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr20:52367400-52372200	Enhancers	Thymus	Thymus
25	chr20:52367400-52373200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr20:52367600-52371000	Enhancers	Fetal Intestine Large	intestine
27	chr20:52367600-52371400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr20:52367600-52371400	Enhancers	HepG2	liver
29	chr20:52367800-52371000	Weak transcription	Esophagus	oesophagus
30	chr20:52368000-52370400	Enhancers	Fetal Lung	lung
31	chr20:52368000-52370800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr20:52368000-52371200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr20:52368000-52375200	Weak transcription	Spleen	Spleen
34	chr20:52368200-52370800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr20:52368200-52370800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr20:52368200-52370800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr20:52368200-52370800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr20:52368200-52370800	Weak transcription	Placenta	Placenta
39	chr20:52368200-52371000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr20:52368200-52371200	Weak transcription	Brain Substantia Nigra	brain
41	chr20:52368200-52373600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr20:52368200-52379000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr20:52368200-52380400	Weak transcription	Right Atrium	heart
44	chr20:52368400-52374200	Weak transcription	Brain Hippocampus Middle	brain
45	chr20:52368400-52380200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr20:52368800-52370600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr20:52368800-52370600	Enhancers	GM12878-XiMat	blood
48	chr20:52368800-52370800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr20:52368800-52371000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr20:52368800-52371400	Enhancers	H1 Cell Line	embryonic stem cell

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