Variant report

Variant	rs11120369
Chromosome Location	chr1:214805256-214805257
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:214387373..214389349-chr1:214805200..214808187,2	MCF-7	breast:
2	chr1:214800806..214805673-chr1:214807375..214811280,6	MCF-7	breast:
3	chr1:214804097..214807282-chr1:214807582..214811109,4	K562	blood:
4	chr1:214804097..214806246-chr1:214807582..214811806,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11120367	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11120368	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11801610	0.90[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023277	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023341	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28391086	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701008	0.94[AFR][1000 genomes]
rs74140215	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140299	0.94[AFR][1000 genomes];1.00[AMR][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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214777600-214810800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:214777600-214838600	Weak transcription	Esophagus	oesophagus
3	chr1:214777800-214838400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:214778000-214839200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:214781200-214818000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:214783200-214817800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:214783400-214838800	Weak transcription	Fetal Kidney	kidney
8	chr1:214784600-214834000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:214784800-214807400	Weak transcription	Fetal Brain Female	brain
10	chr1:214785600-214819400	Strong transcription	K562	blood
11	chr1:214785600-214843800	Strong transcription	Fetal Thymus	thymus
12	chr1:214786200-214843000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:214786600-214833800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:214786600-214843200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:214786800-214843800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:214787600-214842200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:214788000-214810400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:214788200-214820600	Weak transcription	Fetal Heart	heart
19	chr1:214789000-214837400	Weak transcription	Small Intestine	intestine
20	chr1:214790800-214805600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:214793000-214807400	Strong transcription	HSMM	muscle
22	chr1:214793600-214810400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:214793800-214810200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:214794400-214833200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:214795200-214838600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:214795600-214807600	Weak transcription	Primary B cells from cord blood	blood
27	chr1:214801000-214812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:214801000-214839600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:214801000-214843000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:214801200-214846000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:214801400-214806600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:214801600-214811000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:214801600-214811000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:214801800-214807400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:214801800-214816400	Strong transcription	Hela-S3	cervix
36	chr1:214801800-214841400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:214801800-214842600	Strong transcription	A549	lung
38	chr1:214801800-214844800	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr1:214802000-214807200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:214802000-214807800	Strong transcription	HUVEC	blood vessel
41	chr1:214802000-214808000	Strong transcription	HMEC	breast
42	chr1:214802000-214808400	Strong transcription	Osteobl	bone
43	chr1:214802000-214809000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:214802000-214820400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:214802000-214842000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:214802200-214805600	Weak transcription	Fetal Intestine Large	intestine
47	chr1:214802400-214841600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr1:214802600-214810600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:214803000-214808800	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr1:214803000-214809000	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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