Variant report

Variant	rs3777464
Chromosome Location	chr6:131266757-131266758
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131265482..131267662-chr6:131299441..131302281,2	K562	blood:

Variant related genes	Relation type
ENSG00000079819	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10499177	0.82[MEX][hapmap];0.88[TSI][hapmap]
rs12527605	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12528626	0.85[CEU][hapmap];0.84[AMR][1000 genomes]
rs12529894	0.85[CEU][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17059678	0.88[TSI][hapmap]
rs17059852	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs3777447	0.81[CHD][hapmap]
rs3777448	0.84[CHD][hapmap]
rs3777452	0.85[CEU][hapmap];0.80[AMR][1000 genomes]
rs3777456	0.84[CHD][hapmap]
rs3798251	0.94[TSI][hapmap];0.82[AMR][1000 genomes]
rs67836126	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6903066	0.80[JPT][hapmap]
rs6941909	0.81[CEU][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72985722	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9321258	0.86[AFR][1000 genomes]
rs9483193	0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9483194	0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9483195	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9492759	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9492762	0.81[ASW][hapmap];0.85[CEU][hapmap];0.97[LWK][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9492763	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9492768	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9492776	0.81[ASW][hapmap];0.93[MKK][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3777464	EPB41L2	cis	parietal	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131220600-131281200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr6:131244200-131279000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:131251200-131268200	Weak transcription	Right Atrium	heart
4	chr6:131253000-131272800	Weak transcription	Dnd41	blood
5	chr6:131253000-131302200	Weak transcription	Primary B cells from cord blood	blood
6	chr6:131255000-131274600	Weak transcription	Fetal Stomach	stomach
7	chr6:131255200-131276000	Weak transcription	Left Ventricle	heart
8	chr6:131255400-131276200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:131255400-131288800	Weak transcription	Fetal Kidney	kidney
10	chr6:131255800-131276200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:131255800-131277400	Weak transcription	Psoas Muscle	Psoas
12	chr6:131256000-131279400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:131257200-131270200	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:131257400-131281800	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:131259800-131268200	Weak transcription	HSMM	muscle
16	chr6:131260000-131286200	Weak transcription	HSMMtube	muscle
17	chr6:131260200-131266800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:131260200-131266800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:131263600-131272800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr6:131264400-131267200	Enhancers	Fetal Intestine Small	intestine
21	chr6:131264400-131267200	Enhancers	Stomach Mucosa	stomach
22	chr6:131264400-131269200	Enhancers	HepG2	liver
23	chr6:131264600-131266800	Enhancers	Brain Substantia Nigra	brain
24	chr6:131264600-131266800	Enhancers	Fetal Intestine Large	intestine
25	chr6:131264600-131267000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr6:131264600-131267200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr6:131264600-131267200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr6:131264600-131267400	Enhancers	Brain Hippocampus Middle	brain
29	chr6:131264600-131267600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:131264600-131267800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:131264600-131268200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:131264800-131266800	Enhancers	Brain Cingulate Gyrus	brain
33	chr6:131264800-131267000	Enhancers	Brain Angular Gyrus	brain
34	chr6:131264800-131267400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr6:131264800-131267600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr6:131264800-131267600	Enhancers	Fetal Lung	lung
37	chr6:131264800-131277800	Weak transcription	Gastric	stomach
38	chr6:131265000-131266800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:131265000-131267200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:131265000-131267400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr6:131265000-131267800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr6:131265000-131269000	Enhancers	NHLF	lung
43	chr6:131265200-131266800	Enhancers	Aorta	Aorta
44	chr6:131265200-131267200	Enhancers	Small Intestine	intestine
45	chr6:131265400-131267600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr6:131265600-131266800	Enhancers	H9 Cell Line	embryonic stem cell
47	chr6:131265600-131266800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr6:131265600-131266800	Enhancers	Osteobl	bone
49	chr6:131265600-131267000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:131265600-131267200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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