Variant report

Variant	rs4648150
Chromosome Location	chr2:37376767-37376768
allele	C/T
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	MAFK	chr2:37376484-37376804	HepG2	liver:	n/a	chr2:37376631-37376646 chr2:37376635-37376646 chr2:37376636-37376647 chr2:37376636-37376647
2	MAFK	chr2:37376467-37376776	HepG2	liver:	n/a	chr2:37376631-37376646 chr2:37376635-37376646 chr2:37376636-37376647 chr2:37376636-37376647
3	MAFF	chr2:37376506-37376779	HepG2	liver:	n/a	chr2:37376630-37376648
4	GATA3	chr2:37376709-37377111	T-47D	breast:	n/a	n/a
5	GATA3	chr2:37376765-37377287	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:37375493..37378915-chr2:37383921..37387868,3	K562	blood:
2	chr2:37373517..37380041-chr2:37380520..37385811,10	MCF-7	breast:
3	chr2:37375443..37378209-chr2:37422439..37424991,2	MCF-7	breast:
4	chr2:37374955..37377720-chr2:37382756..37385654,3	MCF-7	breast:
5	chr2:37376581..37378204-chr2:37381063..37382727,2	K562	blood:

Variant related genes	Relation type
EIF2AK2	TF binding region
ENSG00000138068	Chromatin interaction
ENSG00000055332	Chromatin interaction
ENSG00000218739	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

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];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892180	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894496	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11896614	1.00[CHB][hapmap]
rs13388882	0.85[AMR][1000 genomes];0.94[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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2307474	0.92[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	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3856498	1.00[ASN][1000 genomes]
rs4233920	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs4648153	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648160	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648163	0.92[EUR][1000 genomes]
rs4648166	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648169	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648170	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648171	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648175	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648190	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648191	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648199	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[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[GIH][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	0.92[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];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759669	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309005	1.00[CHB][hapmap]

No data

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	chr2:37333200-37379600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:37336400-37383200	Weak transcription	Psoas Muscle	Psoas
5	chr2:37339800-37376800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:37348400-37377000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:37348600-37377200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:37348600-37377400	Strong transcription	Dnd41	blood
9	chr2:37348800-37376800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:37353000-37377200	Strong transcription	Fetal Muscle Leg	muscle
11	chr2:37355000-37383200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:37355200-37376800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:37356800-37377000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:37361800-37383200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:37362200-37376800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:37362800-37378400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:37363600-37382600	Weak transcription	Esophagus	oesophagus
18	chr2:37365800-37383600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:37367600-37376800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:37370200-37377200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:37370400-37377200	Strong transcription	Osteobl	bone
22	chr2:37371200-37383200	Weak transcription	Colonic Mucosa	Colon
23	chr2:37372200-37377200	Strong transcription	HSMM	muscle
24	chr2:37372200-37383200	Weak transcription	Gastric	stomach
25	chr2:37372600-37382200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:37372600-37383200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:37373000-37377200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:37373200-37376800	Strong transcription	NHEK	skin
29	chr2:37373200-37377200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:37373200-37377200	Strong transcription	HMEC	breast
31	chr2:37373800-37376800	Weak transcription	Stomach Mucosa	stomach
32	chr2:37373800-37377000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:37373800-37377400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:37373800-37382000	Weak transcription	Right Ventricle	heart
35	chr2:37374000-37377200	Strong transcription	Primary B cells from cord blood	blood
36	chr2:37374000-37382600	Weak transcription	Fetal Heart	heart
37	chr2:37374400-37377000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:37374400-37377600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:37374400-37380800	Weak transcription	Fetal Brain Male	brain
40	chr2:37374400-37382200	Weak transcription	Small Intestine	intestine
41	chr2:37374400-37382400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:37374400-37382400	Weak transcription	Brain Angular Gyrus	brain
43	chr2:37374400-37382400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:37374400-37382400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:37374400-37382600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:37374400-37383200	Weak transcription	NH-A	brain
47	chr2:37374600-37382200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:37375000-37377000	Weak transcription	K562	blood
49	chr2:37375000-37377200	Strong transcription	Hela-S3	cervix
50	chr2:37375000-37382200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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