Variant report

Variant	rs7606272
Chromosome Location	chr2:98439003-98439004
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:98438936-98439065	HepG2	liver:	n/a	n/a
2	HEY1	chr2:98438877-98439075	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
HMGN1P36	TF binding region

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs55804443	0.82[AFR][1000 genomes]
rs55853292	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55887737	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58415781	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58576615	0.82[AFR][1000 genomes]
rs59444417	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59752876	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61363543	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62154508	0.90[EUR][1000 genomes]
rs62154513	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62154516	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs62154549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62154552	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62154553	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62154555	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62154556	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62154558	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62156480	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62156482	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62156488	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62156507	0.93[AMR][1000 genomes]
rs62156508	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62156509	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62156519	0.86[AMR][1000 genomes]
rs62157630	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73960433	0.86[AMR][1000 genomes]
rs73960435	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7420897	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7575922	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7576509	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv961841	chr2:98437476-98446329	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98402000-98440400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:98405800-98459600	Weak transcription	Stomach Mucosa	stomach
3	chr2:98406400-98469200	Weak transcription	A549	lung
4	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
5	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
6	chr2:98410000-98446000	Weak transcription	Colonic Mucosa	Colon
7	chr2:98410000-98456200	Weak transcription	Thymus	Thymus
8	chr2:98410000-98456800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:98410000-98456800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:98410000-98457400	Weak transcription	Small Intestine	intestine
11	chr2:98422000-98456200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:98424000-98442600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr2:98424000-98446800	Weak transcription	Fetal Heart	heart
14	chr2:98424000-98475000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:98424200-98461600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:98425600-98456800	Weak transcription	Esophagus	oesophagus
17	chr2:98425600-98461000	Weak transcription	Brain Germinal Matrix	brain
18	chr2:98426000-98445400	Weak transcription	Gastric	stomach
19	chr2:98426000-98456800	Weak transcription	Right Ventricle	heart
20	chr2:98426200-98456800	Weak transcription	Pancreas	Pancrea
21	chr2:98426400-98456200	Weak transcription	NHEK	skin
22	chr2:98426400-98456800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:98428000-98466600	Weak transcription	K562	blood
24	chr2:98428200-98456600	Weak transcription	Brain Angular Gyrus	brain
25	chr2:98428400-98447400	Weak transcription	Psoas Muscle	Psoas
26	chr2:98428600-98447400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:98428600-98448800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:98428600-98456000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:98428600-98456600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:98428600-98461200	Weak transcription	Fetal Brain Male	brain
31	chr2:98428600-98464600	Weak transcription	HSMMtube	muscle
32	chr2:98428800-98485000	Weak transcription	NHLF	lung
33	chr2:98429000-98470600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:98429200-98448600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:98429200-98448800	Weak transcription	Fetal Kidney	kidney
36	chr2:98429200-98456600	Weak transcription	Fetal Lung	lung
37	chr2:98429800-98439400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:98430000-98467800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:98430200-98445200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:98430600-98456200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:98430600-98456800	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:98430800-98445400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:98430800-98448800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr2:98430800-98448800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:98430800-98448800	Weak transcription	Brain Anterior Caudate	brain
46	chr2:98430800-98449000	Weak transcription	HMEC	breast
47	chr2:98430800-98456000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:98430800-98456000	Weak transcription	Ovary	ovary
49	chr2:98431000-98448600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr2:98431000-98452400	Weak transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links