Variant report

Variant	rs12930398
Chromosome Location	chr16:74909085-74909086
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:74908541..74909124-chr16:75144291..75145057,2	MCF-7	breast:
2	chr16:74907302..74909892-chr16:74910737..74913353,2	K562	blood:
3	chr16:74733479..74735052-chr16:74906892..74909261,2	MCF-7	breast:
4	chr16:74908783..74909343-chr16:75164134..75164687,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247033	Chromatin interaction
ENSG00000168404	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11865599	1.00[CHB][hapmap]
rs16949666	1.00[CHB][hapmap]
rs16949679	1.00[CHB][hapmap]
rs28479510	0.83[AFR][1000 genomes]
rs28515662	0.83[AFR][1000 genomes]
rs28623000	0.83[AFR][1000 genomes]
rs28687393	0.83[AFR][1000 genomes]
rs28688292	0.91[AFR][1000 genomes]
rs28691663	0.83[AFR][1000 genomes]
rs34470087	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5001476	0.81[AFR][1000 genomes]
rs71392621	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9922833	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9923117	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9926941	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
4	nsv1058900	chr16:74753819-75005050	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv542958	chr16:74753819-75005050	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv431516	chr16:74840166-75099566	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
9	nsv833280	chr16:74855811-75077227	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1059764	chr16:74868327-74989488	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1064546	chr16:74868795-74989488	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv572977	chr16:74873513-74954897	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv526213	chr16:74873513-74990061	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv572978	chr16:74873574-74990004	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1063842	chr16:74896749-74990601	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv542959	chr16:74896749-74990601	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74896800-74925200	Weak transcription	Stomach Mucosa	stomach
2	chr16:74897000-74913000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr16:74897000-74917400	Weak transcription	Hela-S3	cervix
4	chr16:74897200-74914400	Weak transcription	K562	blood
5	chr16:74900400-74920000	Weak transcription	Fetal Brain Male	brain
6	chr16:74900600-74913000	Weak transcription	Colon Smooth Muscle	Colon
7	chr16:74900600-74914400	Weak transcription	HSMM	muscle
8	chr16:74902400-74912600	Weak transcription	Small Intestine	intestine
9	chr16:74902800-74911800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr16:74902800-74917400	Weak transcription	Fetal Kidney	kidney
11	chr16:74902800-74917800	Weak transcription	Osteobl	bone
12	chr16:74902800-74918600	Weak transcription	NH-A	brain
13	chr16:74902800-74919000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr16:74903200-74911200	Strong transcription	Fetal Muscle Leg	muscle
15	chr16:74903200-74914400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr16:74903200-74927800	Strong transcription	Fetal Stomach	stomach
17	chr16:74903400-74909800	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr16:74903400-74912600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr16:74903400-74921000	Weak transcription	HUVEC	blood vessel
20	chr16:74903400-74921400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr16:74903600-74918600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr16:74903600-74921400	Weak transcription	Psoas Muscle	Psoas
23	chr16:74904000-74926600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr16:74904200-74911000	Strong transcription	Fetal Intestine Small	intestine
25	chr16:74904800-74944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr16:74905200-74911000	Strong transcription	Fetal Muscle Trunk	muscle
27	chr16:74905200-74938000	Strong transcription	HepG2	liver
28	chr16:74905400-74924200	Strong transcription	Primary hematopoietic stem cells	blood
29	chr16:74905400-74931000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr16:74905400-74938200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr16:74905400-74950800	Strong transcription	Liver	Liver
32	chr16:74905600-74909600	Strong transcription	Fetal Intestine Large	intestine
33	chr16:74905600-74909800	Strong transcription	Brain Anterior Caudate	brain
34	chr16:74905600-74910200	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr16:74905600-74911000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr16:74905600-74911000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr16:74905600-74911000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr16:74905600-74911000	Strong transcription	Aorta	Aorta
39	chr16:74905600-74911000	Strong transcription	Brain Cingulate Gyrus	brain
40	chr16:74905600-74911000	Strong transcription	Stomach Smooth Muscle	stomach
41	chr16:74905600-74911200	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr16:74905600-74911200	Strong transcription	Thymus	Thymus
43	chr16:74905600-74912000	Strong transcription	Adipose Nuclei	Adipose
44	chr16:74905600-74919600	Strong transcription	Fetal Thymus	thymus
45	chr16:74905600-74928600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:74905600-74938800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr16:74905800-74909200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:74905800-74928000	Strong transcription	Dnd41	blood
49	chr16:74906000-74925400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr16:74906200-74914400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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