Variant report

Variant	rs2290199
Chromosome Location	chr1:214837336-214837337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:214836468..214838785-chr1:214840006..214842640,2	K562	blood:
2	chr1:214836037..214838803-chr1:214843803..214845441,2	K562	blood:
3	chr1:214836037..214839768-chr1:214843506..214845441,3	K562	blood:
4	chr1:214830099..214835545-chr1:214836589..214841157,5	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10494982	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs11120364	1.00[JPT][hapmap]
rs11120374	0.95[ASN][1000 genomes]
rs11120375	0.95[ASN][1000 genomes]
rs11487873	1.00[JPT][hapmap]
rs12080949	0.95[ASN][1000 genomes]
rs12088866	1.00[ASN][1000 genomes]
rs168041	1.00[ASN][1000 genomes]
rs17736682	1.00[AFR][1000 genomes]
rs17736783	1.00[AFR][1000 genomes]
rs2362215	1.00[AFR][1000 genomes]
rs335526	0.87[ASN][1000 genomes]
rs3748693	1.00[JPT][hapmap]
rs60411163	1.00[ASN][1000 genomes]
rs61732042	1.00[AFR][1000 genomes]
rs6687966	0.95[ASN][1000 genomes]
rs73083621	1.00[ASN][1000 genomes]
rs73083625	1.00[ASN][1000 genomes]
rs73083633	1.00[ASN][1000 genomes]
rs73083635	1.00[ASN][1000 genomes]
rs73083645	0.95[ASN][1000 genomes]
rs73083649	0.90[ASN][1000 genomes]
rs73083650	0.95[ASN][1000 genomes]
rs73083651	0.95[ASN][1000 genomes]
rs73083653	0.95[ASN][1000 genomes]
rs7542458	0.95[ASN][1000 genomes]
rs7556564	0.95[ASN][1000 genomes]
rs921366	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv997864	chr1:214778658-214994142	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1002937	chr1:214793813-214994142	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1013284	chr1:214799847-214951184	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv873165	chr1:214802299-214889859	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214777600-214838600	Weak transcription	Esophagus	oesophagus
2	chr1:214777800-214838400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:214778000-214839200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:214783400-214838800	Weak transcription	Fetal Kidney	kidney
5	chr1:214785600-214843800	Strong transcription	Fetal Thymus	thymus
6	chr1:214786200-214843000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:214786600-214843200	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:214786800-214843800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:214787600-214842200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:214789000-214837400	Weak transcription	Small Intestine	intestine
11	chr1:214795200-214838600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:214801000-214839600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:214801000-214843000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:214801200-214846000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:214801800-214841400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:214801800-214842600	Strong transcription	A549	lung
17	chr1:214801800-214844800	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr1:214802000-214842000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:214802400-214841600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr1:214804000-214858200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:214804200-214839400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:214805800-214845800	Strong transcription	Dnd41	blood
23	chr1:214806000-214840200	Weak transcription	Fetal Intestine Small	intestine
24	chr1:214810400-214847400	Weak transcription	Brain Germinal Matrix	brain
25	chr1:214811200-214841600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:214811400-214841600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:214811600-214840400	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr1:214812000-214840600	Strong transcription	Thymus	Thymus
29	chr1:214812800-214846000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:214813400-214840600	Strong transcription	HUVEC	blood vessel
31	chr1:214814200-214841400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:214816600-214841600	Weak transcription	Fetal Brain Female	brain
33	chr1:214819200-214843000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr1:214820200-214841000	Strong transcription	K562	blood
35	chr1:214821000-214839000	Weak transcription	Fetal Heart	heart
36	chr1:214821200-214841400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:214822000-214841400	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:214822600-214840800	Strong transcription	HepG2	liver
39	chr1:214826400-214840400	Strong transcription	GM12878-XiMat	blood
40	chr1:214826400-214840400	Strong transcription	HMEC	breast
41	chr1:214826400-214840800	Strong transcription	Primary hematopoietic stem cells	blood
42	chr1:214826600-214841400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:214827400-214838000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:214827400-214843600	Weak transcription	Ovary	ovary
45	chr1:214827400-214847200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:214828000-214840200	Strong transcription	Hela-S3	cervix
47	chr1:214828200-214846000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:214829800-214838400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:214830800-214841400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr1:214831800-214841600	Weak transcription	Fetal Intestine Large	intestine

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