Variant report

Variant	rs4763299
Chromosome Location	chr12:9904449-9904450
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:9903679..9905880-chr12:10079207..10081404,2	K562	blood:
2	chr12:9902845..9905965-chr18:46122603..46125602,4	K562	blood:
3	chr12:9903687..9905772-chr12:9958368..9961230,2	K562	blood:
4	chr12:9797900..9800750-chr12:9903468..9905563,2	K562	blood:
5	chr12:9903036..9905179-chr12:10078668..10080707,2	K562	blood:
6	chr12:9793433..9795814-chr12:9903081..9904600,2	K562	blood:
7	chr12:9894583..9897209-chr12:9902973..9905034,4	K562	blood:
8	chr12:9786956..9789241-chr12:9902375..9904893,3	K562	blood:
9	chr12:9902845..9905395-chr18:46122603..46125600,2	K562	blood:
10	chr12:9903167..9904499-chr12:9949360..9951288,15	MCF-7	breast:
11	chr12:9785937..9789241-chr12:9902375..9905044,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272917	Chromatin interaction
ENSG00000256594	Chromatin interaction
ENSG00000256442	Chromatin interaction
ENSG00000233719	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10743828	1.00[ASN][1000 genomes]
rs17806015	0.93[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136576	1.00[ASN][1000 genomes]
rs3176793	0.93[CEU][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763864	1.00[ASN][1000 genomes]
rs6416258	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs6488176	1.00[ASN][1000 genomes]
rs766502	0.93[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969022	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv976572	chr12:9896625-9906830	Genic enhancers ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9893400-9910800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:9895600-9906000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:9896400-9911000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:9902800-9905000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:9903000-9904600	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr12:9903000-9904800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:9903000-9904800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:9903000-9904800	Enhancers	Dnd41	blood
9	chr12:9903200-9904600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:9903200-9904600	Enhancers	Fetal Thymus	thymus
11	chr12:9903200-9905800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr12:9903400-9907600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:9903400-9917600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:9903600-9904600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:9903600-9904600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:9903600-9905200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr12:9903600-9911000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:9903800-9904600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr12:9903800-9904600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:9903800-9905200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr12:9903800-9911200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:9904000-9904600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr12:9904000-9904600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr12:9904000-9905600	Weak transcription	GM12878-XiMat	blood
25	chr12:9904000-9905800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:9904000-9910200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr12:9904200-9904600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:9904200-9904600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:9904200-9904800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr12:9904200-9904800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:9904200-9905200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:9904200-9905200	Weak transcription	K562	blood
33	chr12:9904200-9905600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:9904200-9910800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr12:9904200-9911200	Weak transcription	Small Intestine	intestine
36	chr12:9904400-9904600	Enhancers	Primary B cells from cord blood	blood
37	chr12:9904400-9904600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:9904400-9904600	Enhancers	Fetal Lung	lung
39	chr12:9904400-9904800	Genic enhancers	Primary T cells fromperipheralblood	blood
40	chr12:9904400-9904800	ZNF genes & repeats	Thymus	Thymus
41	chr12:9904400-9905600	Enhancers	Primary T cells from cord blood	blood
42	chr12:9904400-9905600	Weak transcription	HUVEC	blood vessel
43	chr12:9904400-9913200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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