Variant report

Variant	rs73978632
Chromosome Location	chr2:190321347-190321348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190319724..190322285-chr2:190329459..190331222,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10164448	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10198505	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10755003	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10931409	0.80[EUR][1000 genomes]
rs1464262	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1473999	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1515867	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1606931	0.91[EUR][1000 genomes]
rs16831356	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2030293	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2102874	0.91[EUR][1000 genomes]
rs2176649	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2351634	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2683011	0.86[AMR][1000 genomes]
rs4031918	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4494782	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4666773	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56920210	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58288282	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58796942	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6434335	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73978612	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73978617	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73978620	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73978626	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73978633	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73982009	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7591652	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7596033	0.91[EUR][1000 genomes]
rs870921	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs870922	0.91[EUR][1000 genomes]
rs939157	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs939159	0.95[AMR][1000 genomes];0.91[EUR][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	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190306800-190323000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:190306800-190323800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:190306800-190344200	Weak transcription	Esophagus	oesophagus
4	chr2:190307000-190334200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:190307600-190322600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:190307600-190323400	Weak transcription	Ovary	ovary
7	chr2:190307600-190330000	Weak transcription	Fetal Heart	heart
8	chr2:190307600-190334200	Weak transcription	Pancreas	Pancrea
9	chr2:190307600-190338200	Weak transcription	Spleen	Spleen
10	chr2:190307600-190342000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:190307600-190342600	Weak transcription	Aorta	Aorta
12	chr2:190307800-190332400	Weak transcription	Stomach Mucosa	stomach
13	chr2:190308000-190334600	Weak transcription	Right Ventricle	heart
14	chr2:190308200-190325000	Weak transcription	Thymus	Thymus
15	chr2:190308200-190328400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:190308200-190328600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:190308200-190342800	Strong transcription	A549	lung
18	chr2:190308400-190329800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:190308600-190341800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:190308600-190342200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:190309000-190342600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:190309200-190327600	Weak transcription	Psoas Muscle	Psoas
23	chr2:190309200-190341200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:190309400-190337200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:190309600-190325600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:190309600-190341800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr2:190309600-190342000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:190309800-190326400	Strong transcription	Fetal Intestine Large	intestine
29	chr2:190309800-190337000	Strong transcription	Primary B cells from cord blood	blood
30	chr2:190309800-190342400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:190310200-190340600	Strong transcription	Dnd41	blood
32	chr2:190310200-190341600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:190310400-190325000	Strong transcription	Primary T cells from cord blood	blood
34	chr2:190310400-190341800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:190310800-190342000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:190310800-190342000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:190311000-190340400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:190311000-190341600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:190311000-190341800	Strong transcription	NH-A	brain
40	chr2:190311200-190323600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:190311200-190341800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr2:190311600-190341800	Strong transcription	HMEC	breast
43	chr2:190311800-190341400	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:190311800-190342400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:190312000-190321600	Strong transcription	Primary hematopoietic stem cells	blood
46	chr2:190312000-190325400	Strong transcription	HUVEC	blood vessel
47	chr2:190312000-190341600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:190312200-190325400	Strong transcription	Fetal Brain Female	brain
49	chr2:190312200-190325800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:190312200-190330200	Strong transcription	Rectal Mucosa Donor 31	rectum

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