Variant report

Variant	rs36047716
Chromosome Location	chr2:234351649-234351650
allele	-/G
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	CTCF	chr2:234351575-234352952	A549	lung:	n/a	chr2:234352370-234352383 chr2:234352365-234352383 chr2:234352370-234352383 chr2:234352367-234352380
2	RAD21	chr2:234351569-234352771	SK-N-SH	brain:	n/a	chr2:234352726-234352736 chr2:234352363-234352382 chr2:234352724-234352737

No.	Distal block	Cell Line	Cell type
1	chr2:234182612..234184679-chr2:234350884..234352391,2	MCF-7	breast:
2	chr2:234312047..234314446-chr2:234350667..234352511,2	MCF-7	breast:
3	chr2:234314923..234315537-chr2:234351572..234352538,2	MCF-7	breast:
4	chr2:234348050..234350762-chr2:234350951..234353188,2	K562	blood:
5	chr2:234345589..234349550-chr2:234350217..234354026,5	K562	blood:
6	chr2:234351455..234354146-chr2:234354581..234357178,2	MCF-7	breast:
7	chr2:234345441..234347683-chr2:234351223..234353464,2	MCF-7	breast:

Variant related genes	Relation type
DGKD	TF binding region
ENSG00000077044	Chromatin interaction
ENSG00000085978	Chromatin interaction
ENSG00000252010	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs41264147	1.00[EUR][1000 genomes]
rs41270765	1.00[EUR][1000 genomes]
rs55692234	1.00[EUR][1000 genomes]
rs56847313	1.00[EUR][1000 genomes]
rs57468849	1.00[EUR][1000 genomes]
rs58553955	1.00[EUR][1000 genomes]
rs61214492	1.00[EUR][1000 genomes]
rs61739478	1.00[EUR][1000 genomes]
rs6740882	1.00[EUR][1000 genomes]
rs6741894	1.00[EUR][1000 genomes]
rs72482113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72482115	1.00[EUR][1000 genomes]
rs73995971	1.00[EUR][1000 genomes]
rs73995981	1.00[EUR][1000 genomes]
rs73997603	1.00[EUR][1000 genomes]
rs73997604	1.00[EUR][1000 genomes]
rs9941556	1.00[EUR][1000 genomes]
rs9941651	1.00[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	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234335200-234357600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:234338000-234358000	Weak transcription	NH-A	brain
4	chr2:234338400-234362800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:234338800-234360800	Weak transcription	HMEC	breast
6	chr2:234339200-234360000	Weak transcription	K562	blood
7	chr2:234339600-234354800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:234339600-234394200	Weak transcription	HUVEC	blood vessel
9	chr2:234339800-234391400	Weak transcription	NHDF-Ad	bronchial
10	chr2:234341600-234357400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:234341800-234354800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:234342800-234354800	Weak transcription	Fetal Kidney	kidney
13	chr2:234342800-234358000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:234343000-234351800	Strong transcription	Fetal Thymus	thymus
15	chr2:234343000-234352000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:234343000-234352000	Strong transcription	Liver	Liver
17	chr2:234343000-234352000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr2:234343000-234393000	Strong transcription	Primary T cells from cord blood	blood
19	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:234343200-234352000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:234343200-234352000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:234343200-234352200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr2:234343200-234352200	Strong transcription	Fetal Stomach	stomach
24	chr2:234343200-234383000	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:234343400-234357400	Strong transcription	Fetal Intestine Small	intestine
26	chr2:234343400-234368800	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:234343600-234357600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:234343600-234359400	Strong transcription	Lung	lung
29	chr2:234344000-234351800	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr2:234344000-234357600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:234344000-234366200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:234344000-234382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:234344200-234352200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:234344200-234382000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr2:234344200-234382200	Strong transcription	Primary B cells from cord blood	blood
36	chr2:234344200-234382600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr2:234344400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:234345200-234357200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:234345800-234352200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:234345800-234357000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:234346200-234358200	Strong transcription	Spleen	Spleen
42	chr2:234346400-234355200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
43	chr2:234346400-234356800	Weak transcription	NHLF	lung
44	chr2:234346600-234353400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:234346600-234375000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:234346800-234352000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:234346800-234352200	Strong transcription	Fetal Muscle Leg	muscle
48	chr2:234346800-234352400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr2:234346800-234354600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:234346800-234356400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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