Variant report

Variant	rs324720
Chromosome Location	chr4:76686806-76686807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:76685328..76688231-chr4:76690278..76694027,3	K562	blood:
2	chr4:76683893..76686994-chr4:76703855..76707290,3	K562	blood:
3	chr4:76684957..76686828-chr4:76690009..76691778,2	K562	blood:

Variant related genes	Relation type
ENSG00000138768	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10031532	0.85[CEU][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28541901	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324687	0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324694	0.84[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324702	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324704	0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324705	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324706	0.83[AFR][1000 genomes]
rs324710	0.84[CEU][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324729	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324734	0.84[CEU][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324736	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs324739	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55884734	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817228	0.86[EUR][1000 genomes]
rs6841486	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7691515	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76650800-76737800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:76652000-76696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:76652400-76725000	Weak transcription	Hela-S3	cervix
4	chr4:76668400-76698600	Weak transcription	Fetal Brain Male	brain
5	chr4:76671000-76689400	Weak transcription	Fetal Heart	heart
6	chr4:76671000-76739400	Weak transcription	Stomach Mucosa	stomach
7	chr4:76671600-76707800	Weak transcription	Right Ventricle	heart
8	chr4:76672000-76692200	Weak transcription	Colonic Mucosa	Colon
9	chr4:76674800-76715200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:76675000-76727400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:76675400-76695400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:76676000-76696400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:76676200-76687600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:76676200-76689400	Weak transcription	NHLF	lung
15	chr4:76676200-76695200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:76676200-76695800	Weak transcription	Brain Substantia Nigra	brain
17	chr4:76676200-76696000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:76676400-76692000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:76676400-76695800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr4:76676400-76695800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:76676400-76696400	Weak transcription	Esophagus	oesophagus
22	chr4:76676400-76696400	Weak transcription	Pancreas	Pancrea
23	chr4:76676400-76696800	Weak transcription	NHEK	skin
24	chr4:76676400-76697200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:76676400-76704800	Weak transcription	Aorta	Aorta
26	chr4:76676400-76704800	Weak transcription	Gastric	stomach
27	chr4:76676400-76730600	Weak transcription	Spleen	Spleen
28	chr4:76676600-76692000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr4:76676600-76695800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr4:76676600-76695800	Weak transcription	Fetal Kidney	kidney
31	chr4:76676800-76687400	Weak transcription	Primary T cells from cord blood	blood
32	chr4:76676800-76689600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:76676800-76690200	Weak transcription	Small Intestine	intestine
34	chr4:76676800-76691600	Weak transcription	HMEC	breast
35	chr4:76676800-76691800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:76676800-76692000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr4:76676800-76692400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:76676800-76692400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr4:76676800-76695200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:76676800-76695400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr4:76676800-76695400	Weak transcription	A549	lung
42	chr4:76676800-76695800	Weak transcription	Brain Germinal Matrix	brain
43	chr4:76676800-76695800	Weak transcription	Ovary	ovary
44	chr4:76676800-76695800	Weak transcription	Psoas Muscle	Psoas
45	chr4:76676800-76695800	Weak transcription	Thymus	Thymus
46	chr4:76676800-76696400	Weak transcription	Brain Angular Gyrus	brain
47	chr4:76676800-76698400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr4:76676800-76698400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr4:76677000-76687000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr4:76677000-76687200	Weak transcription	Rectal Mucosa Donor 29	rectum

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