Variant report

Variant	rs36019625
Chromosome Location	chr2:171680561-171680562
allele	CT/GG
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	SP1	chr2:171680295-171680829	H1-hESC	embryonic stem cell:	n/a	chr2:171680578-171680587 chr2:171680512-171680523 chr2:171680576-171680587 chr2:171680577-171680591
2	CTBP2	chr2:171676326-171681103	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chr2:171679923-171680694	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUND	chr2:171680529-171680602	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr2:171680147-171680774	H1-hESC	embryonic stem cell:	n/a	chr2:171680370-171680380
6	E2F6	chr2:171678636-171680907	H1-hESC	embryonic stem cell:	n/a	chr2:171680208-171680215 chr2:171680207-171680218 chr2:171679777-171679786 chr2:171680353-171680363 chr2:171680208-171680215 chr2:171680021-171680031 chr2:171680208-171680215 chr2:171680517-171680524 chr2:171680517-171680524 chr2:171680517-171680524 chr2:171680513-171680525 chr2:171680719-171680730 chr2:171680208-171680219 chr2:171680207-171680216
7	MAX	chr2:171680054-171680750	H1-hESC	embryonic stem cell:	n/a	chr2:171680370-171680380
8	MAX	chr2:171680372-171680669	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr2:171679665-171680566	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F6	chr2:171678799-171680817	H1-hESC	embryonic stem cell:	n/a	chr2:171680208-171680215 chr2:171680207-171680218 chr2:171679777-171679786 chr2:171680353-171680363 chr2:171680208-171680215 chr2:171680021-171680031 chr2:171680208-171680215 chr2:171680517-171680524 chr2:171680517-171680524 chr2:171680517-171680524 chr2:171680513-171680525 chr2:171680719-171680730 chr2:171680208-171680219 chr2:171680207-171680216
11	YY1	chr2:171679866-171680687	H1-hESC	embryonic stem cell:	n/a	chr2:171679901-171679915 chr2:171680105-171680116 chr2:171680017-171680028 chr2:171679994-171680004
12	CTCF	chr2:171680440-171680590	RPTEC	kidney:	n/a	n/a
13	ZNF143	chr2:171680535-171680695	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr2:171678356-171680959	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:171680203..171683000-chr2:171705982..171708617,2	K562	blood:
2	chr2:171673846..171675372-chr2:171679863..171681966,2	MCF-7	breast:
3	chr2:171678939..171680621-chr2:171682789..171685918,3	MCF-7	breast:
4	chr2:171671327..171674926-chr2:171677821..171681963,4	K562	blood:

Variant related genes	Relation type
GAD1	TF binding region
ENSG00000235934	Chromatin interaction
ENSG00000128683	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12185692	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13000989	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3749035	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3791866	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3791867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3791874	0.83[AMR][1000 genomes]
rs3828275	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171674400-171682200	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:171676800-171680600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:171676800-171680600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
4	chr2:171676800-171681200	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
5	chr2:171677200-171680600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:171677400-171680600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr2:171677600-171680600	Bivalent Enhancer	Placenta	Placenta
8	chr2:171677800-171680600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr2:171677800-171680600	Bivalent Enhancer	Liver	Liver
10	chr2:171677800-171680800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:171678000-171680600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:171678000-171680800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:171678200-171680600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:171678200-171680600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:171678600-171680600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:171678800-171680600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:171679000-171680600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr2:171679000-171680600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:171679000-171680800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr2:171679200-171680600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:171679200-171681000	Enhancers	Spleen	Spleen
22	chr2:171679400-171680600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
23	chr2:171679400-171680600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr2:171679400-171680600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr2:171679400-171680600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
26	chr2:171679600-171680600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr2:171679600-171680600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr2:171679600-171680600	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr2:171679600-171680600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
30	chr2:171679600-171680600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:171679600-171680600	Active TSS	Brain Anterior Caudate	brain
32	chr2:171679600-171680600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
33	chr2:171679600-171680600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr2:171679600-171680600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr2:171679600-171680600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
36	chr2:171679600-171681000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
37	chr2:171679600-171681200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr2:171679600-171681600	Bivalent Enhancer	Fetal Brain Male	brain
39	chr2:171679600-171688800	Weak transcription	K562	blood
40	chr2:171679800-171680600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:171679800-171680600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
42	chr2:171679800-171680600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr2:171680000-171680600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:171680000-171680600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:171680000-171680600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:171680000-171680600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:171680000-171680600	Bivalent Enhancer	Esophagus	oesophagus
48	chr2:171680000-171680600	Bivalent/Poised TSS	Psoas Muscle	Psoas
49	chr2:171680000-171680600	Active TSS	Right Ventricle	heart
50	chr2:171680000-171680600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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