Variant report

Variant	rs4648169
Chromosome Location	chr2:37373897-37373898
allele	C/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	POLR2A	chr2:37373351-37374375	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:37373242-37374437	K562	blood:	n/a	n/a
3	CTCF	chr2:37373760-37373910	GM12864	blood:	n/a	n/a
4	SPI1	chr2:37373397-37373906	HL-60	blood:	n/a	chr2:37373660-37373673 chr2:37373661-37373674 chr2:37373662-37373671

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37373517..37380041-chr2:37380520..37385811,10	MCF-7	breast:
2	chr2:37372644..37374273-chr2:37382533..37385006,2	K562	blood:

Variant related genes	Relation type
ENSG00000224891	TF binding region
ENSG00000055332	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10170761	1.00[CHB][hapmap]
rs10177315	1.00[ASN][1000 genomes]
rs10194972	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11892108	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892180	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894496	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11896614	1.00[CHB][hapmap]
rs13388882	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13414561	1.00[CHB][hapmap]
rs13425846	1.00[ASN][1000 genomes]
rs13429945	1.00[CHB][hapmap]
rs17410072	1.00[CHB][hapmap]
rs2307472	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2307474	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2307483	1.00[CHB][hapmap]
rs2372443	1.00[ASN][1000 genomes]
rs2373114	1.00[CHB][hapmap]
rs2373188	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3856498	1.00[ASN][1000 genomes]
rs4233920	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648153	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648156	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648158	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4648166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648202	1.00[CHB][hapmap]
rs4648212	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648216	1.00[ASN][1000 genomes]
rs4648218	1.00[ASN][1000 genomes]
rs4648219	1.00[ASN][1000 genomes]
rs4648234	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648237	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs55679447	1.00[ASN][1000 genomes]
rs55939105	1.00[ASN][1000 genomes]
rs62621388	1.00[ASN][1000 genomes]
rs6544054	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6544055	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6720519	1.00[ASN][1000 genomes]
rs6726403	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6726768	1.00[CHB][hapmap]
rs6726921	1.00[CHB][hapmap]
rs6733861	1.00[CHB][hapmap]
rs6734153	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6740307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749793	1.00[CHB][hapmap]
rs6754376	1.00[CHB][hapmap]
rs7556959	1.00[CHB][hapmap]
rs7559558	1.00[CHB][hapmap]
rs7568925	1.00[ASN][1000 genomes]
rs7590377	1.00[ASN][1000 genomes]
rs759460	1.00[CHB][hapmap]
rs759668	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759669	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309005	1.00[CHB][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4648169	CCDC75	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37312200-37383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:37319200-37377200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr2:37332600-37375200	Strong transcription	Liver	Liver
4	chr2:37333200-37379600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:37336400-37383200	Weak transcription	Psoas Muscle	Psoas
6	chr2:37339800-37376800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:37342400-37376400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:37342400-37376400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:37342400-37376600	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:37346400-37376200	Strong transcription	Fetal Intestine Large	intestine
11	chr2:37347600-37376400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:37347800-37376400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:37347800-37376400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:37348400-37376000	Strong transcription	Adipose Nuclei	Adipose
15	chr2:37348400-37377000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:37348600-37376200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:37348600-37376600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:37348600-37377200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:37348600-37377400	Strong transcription	Dnd41	blood
20	chr2:37348800-37376200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr2:37348800-37376400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr2:37348800-37376600	Strong transcription	Fetal Thymus	thymus
23	chr2:37348800-37376800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:37349000-37375400	Strong transcription	Duodenum Mucosa	Duodenum
25	chr2:37349000-37376200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:37349000-37376200	Strong transcription	Fetal Brain Female	brain
27	chr2:37351800-37376000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:37353000-37377200	Strong transcription	Fetal Muscle Leg	muscle
29	chr2:37355000-37383200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:37355200-37374800	Strong transcription	GM12878-XiMat	blood
31	chr2:37355200-37376000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:37355200-37376800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:37356800-37377000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:37357400-37376200	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:37358200-37375000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:37358200-37376600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:37359000-37375800	Strong transcription	Ovary	ovary
38	chr2:37359000-37376200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:37359800-37375000	Strong transcription	Stomach Smooth Muscle	stomach
40	chr2:37360000-37376200	Strong transcription	HepG2	liver
41	chr2:37361000-37375400	Strong transcription	Placenta	Placenta
42	chr2:37361800-37383200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:37362200-37376800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:37362800-37378400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:37363600-37376200	Weak transcription	Pancreas	Pancrea
46	chr2:37363600-37382600	Weak transcription	Esophagus	oesophagus
47	chr2:37365800-37383600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr2:37367600-37376800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:37368400-37375000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:37368400-37376400	Strong transcription	Fetal Stomach	stomach

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