Variant report

Variant	rs73978670
Chromosome Location	chr2:190370529-190370530
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190370323..190372281-chr2:190487630..190489200,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs55979997	1.00[AMR][1000 genomes]
rs56087520	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56207532	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56941749	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57804388	1.00[AMR][1000 genomes]
rs59752566	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978671	0.96[AFR][1000 genomes]
rs73978672	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978695	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978696	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978697	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978698	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978699	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978700	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978701	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978702	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980203	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980204	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980205	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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv584062	chr2:190272195-190376493	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv3439566	chr2:190364328-190376661	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190365400-190371200	Weak transcription	Psoas Muscle	Psoas
2	chr2:190366000-190377600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:190366800-190371200	Weak transcription	HSMMtube	muscle
4	chr2:190367000-190378400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:190368200-190371200	Weak transcription	Ovary	ovary
6	chr2:190368400-190371400	Weak transcription	Fetal Lung	lung
7	chr2:190369000-190372000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:190369400-190370600	Enhancers	Placenta	Placenta
9	chr2:190369400-190371800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:190369400-190371800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:190369800-190370600	Enhancers	Primary T cells from cord blood	blood
12	chr2:190369800-190370600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr2:190369800-190370600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:190369800-190370600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:190369800-190370600	Enhancers	Dnd41	blood
16	chr2:190369800-190370600	Enhancers	K562	blood
17	chr2:190369800-190370800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:190369800-190371400	Enhancers	Small Intestine	intestine
19	chr2:190369800-190371800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:190369800-190371800	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:190369800-190372000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:190369800-190372000	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:190369800-190372000	Enhancers	HepG2	liver
24	chr2:190369800-190372000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr2:190369800-190372200	Enhancers	Fetal Intestine Large	intestine
26	chr2:190369800-190372200	Enhancers	Fetal Intestine Small	intestine
27	chr2:190369800-190372400	Enhancers	Stomach Mucosa	stomach
28	chr2:190370000-190370600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:190370000-190370600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr2:190370000-190371600	Enhancers	Hela-S3	cervix
31	chr2:190370200-190370600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr2:190370400-190370800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:190370400-190370800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:190370400-190372000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr2:190370400-190374400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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