Variant report

Variant	rs202034234
Chromosome Location	chr2:127417075-127417076
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127064260..127066484-chr2:127415621..127417230,2	K562	blood:

Variant related genes	Relation type
ENSG00000235774	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875000	chr2:127402833-127423066	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875001	chr2:127402833-127431312	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv875002	chr2:127412013-127420211	Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv875003	chr2:127412495-127419582	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv875004	chr2:127412495-127420211	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv583012	chr2:127414661-127420228	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv875005	chr2:127414661-127423066	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv583013	chr2:127417052-127421391	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127414000-127417400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr2:127414200-127417200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:127414200-127417400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr2:127414600-127417200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:127414600-127417200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr2:127414600-127417200	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr2:127414800-127417200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr2:127415000-127417200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:127415000-127417400	Enhancers	Spleen	Spleen
10	chr2:127415000-127417400	Enhancers	HUVEC	blood vessel
11	chr2:127415000-127417800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:127415000-127417800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:127415000-127423200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:127415200-127417200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr2:127415200-127417200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr2:127415200-127417800	Weak transcription	Brain Germinal Matrix	brain
17	chr2:127415200-127428000	Weak transcription	Gastric	stomach
18	chr2:127415400-127417200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:127415400-127417200	Enhancers	Fetal Kidney	kidney
20	chr2:127415400-127417200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr2:127415400-127417600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:127415400-127417600	Enhancers	Lung	lung
23	chr2:127415400-127417800	Enhancers	Pancreas	Pancrea
24	chr2:127415400-127418400	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:127415400-127419600	Enhancers	Esophagus	oesophagus
26	chr2:127415600-127417200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:127415600-127417200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:127415600-127417400	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr2:127415600-127417600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:127415600-127417800	Transcr. at gene 5' and 3'	K562	blood
31	chr2:127415600-127418800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
32	chr2:127415600-127421000	Enhancers	Left Ventricle	heart
33	chr2:127415600-127422800	Enhancers	Right Atrium	heart
34	chr2:127415600-127423200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr2:127415600-127424600	Enhancers	Right Ventricle	heart
36	chr2:127415800-127417200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:127415800-127417200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr2:127415800-127417200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr2:127415800-127417200	Enhancers	Dnd41	blood
40	chr2:127416000-127417200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr2:127416000-127417200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:127416000-127417200	Enhancers	Hela-S3	cervix
43	chr2:127416000-127417600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:127416000-127417600	Enhancers	Fetal Muscle Trunk	muscle
45	chr2:127416000-127417800	Enhancers	HSMM	muscle
46	chr2:127416000-127421400	Weak transcription	Liver	Liver
47	chr2:127416000-127422600	Genic enhancers	Fetal Muscle Leg	muscle
48	chr2:127416000-127423600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:127416200-127417200	Enhancers	NH-A	brain
50	chr2:127416200-127417200	Enhancers	Osteobl	bone

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