Variant report

Variant	rs72929198
Chromosome Location	chr2:39628241-39628242
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39626974..39629375-chr2:39635445..39637433,2	MCF-7	breast:
2	chr2:39627754..39629424-chr2:39632198..39633991,2	MCF-7	breast:
3	chr2:39621678..39625449-chr2:39627882..39630825,3	MCF-7	breast:
4	chr2:39625232..39628414-chr2:39637317..39639794,4	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10490304	1.00[AMR][1000 genomes]
rs17023819	1.00[AMR][1000 genomes]
rs17023823	1.00[AMR][1000 genomes]
rs72929191	0.91[AFR][1000 genomes]
rs72929192	1.00[AMR][1000 genomes]
rs72929194	1.00[AMR][1000 genomes]
rs72929202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931106	1.00[AMR][1000 genomes]
rs72931107	1.00[AMR][1000 genomes]
rs72931112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39588000-39630400	Weak transcription	Placenta	Placenta
2	chr2:39603200-39638400	Weak transcription	Hela-S3	cervix
3	chr2:39607600-39643400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:39613800-39630600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:39617800-39628400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:39617800-39630600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:39618000-39633400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:39619200-39629600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:39620000-39629400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:39620200-39635600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:39621800-39628600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:39622000-39628600	Weak transcription	Lung	lung
13	chr2:39622000-39635400	Weak transcription	HSMM	muscle
14	chr2:39622600-39643600	Weak transcription	Brain Germinal Matrix	brain
15	chr2:39622800-39630400	Weak transcription	Liver	Liver
16	chr2:39622800-39630400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:39622800-39630600	Weak transcription	Fetal Stomach	stomach
18	chr2:39622800-39643200	Weak transcription	Fetal Brain Male	brain
19	chr2:39622800-39643400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:39625200-39630600	Weak transcription	Fetal Intestine Small	intestine
21	chr2:39625400-39630600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:39625400-39634400	Weak transcription	Fetal Intestine Large	intestine
23	chr2:39626000-39629600	Enhancers	HepG2	liver
24	chr2:39626200-39629000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:39626200-39629000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:39626200-39629400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:39626400-39628400	Enhancers	Adipose Nuclei	Adipose
28	chr2:39626400-39628800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:39626400-39629000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr2:39626400-39629400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:39626600-39628400	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr2:39626600-39628600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:39626600-39628600	Enhancers	NHLF	lung
34	chr2:39626600-39629400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:39626800-39630200	Weak transcription	Fetal Thymus	thymus
36	chr2:39626800-39630400	Weak transcription	Aorta	Aorta
37	chr2:39626800-39630600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr2:39626800-39634200	Weak transcription	Fetal Kidney	kidney
39	chr2:39626800-39635800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr2:39627000-39629400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:39627000-39630400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:39627000-39630400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:39627000-39630400	Weak transcription	HMEC	breast
44	chr2:39627000-39630600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:39627000-39631400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr2:39627000-39632200	Weak transcription	Brain Angular Gyrus	brain
47	chr2:39627000-39632400	Weak transcription	HSMMtube	muscle
48	chr2:39627000-39632800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:39627000-39636600	Weak transcription	Osteobl	bone
50	chr2:39627200-39633600	Weak transcription	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links