Variant report

Variant	rs9967601
Chromosome Location	chr19:45317469-45317470
allele	A/G
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	POLR2A	chr19:45317441-45317481	HepG2	liver:	n/a	n/a
2	NR2F2	chr19:45316630-45317547	HepG2	liver:	n/a	chr19:45316958-45316973 chr19:45316893-45316908 chr19:45316932-45316947
3	CTCF	chr19:45317440-45317590	GM12865	blood:	n/a	n/a
4	NR2F2	chr19:45316645-45317481	K562	blood:	n/a	chr19:45316958-45316973 chr19:45316893-45316908 chr19:45316932-45316947
5	NR2F2	chr19:45316577-45317821	MCF-7	breast:	n/a	chr19:45316958-45316973 chr19:45316893-45316908 chr19:45316932-45316947

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:45316121..45318107-chr19:45322660..45325176,2	K562	blood:
2	chr19:45316439..45318053-chr19:45349513..45351038,2	K562	blood:

Variant related genes	Relation type
BCAM	TF binding region
ENSG00000130202	Chromatin interaction
ENSG00000187244	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10402103	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs10404441	0.89[AFR][1000 genomes]
rs10410517	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10415477	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs10426988	0.89[AFR][1000 genomes]
rs28399611	0.90[AFR][1000 genomes]
rs28399632	0.89[AFR][1000 genomes]
rs28528835	1.00[AFR][1000 genomes]
rs2927457	1.00[CEU][hapmap]
rs394819	1.00[CEU][hapmap]
rs5164	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912117	chr19:45298069-45322744	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv912118	chr19:45300056-45326664	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv912120	chr19:45304307-45317469	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv912121	chr19:45304307-45319297	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv912122	chr19:45304307-45324516	Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv912124	chr19:45310319-45318564	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv912125	chr19:45310319-45321841	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv579863	chr19:45310319-45322451	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv912128	chr19:45312114-45321841	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45313000-45318200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr19:45313000-45319000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr19:45313000-45320400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:45313000-45325400	Weak transcription	Brain Hippocampus Middle	brain
5	chr19:45313400-45321200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr19:45313400-45321600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr19:45313600-45322800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr19:45313600-45323400	Weak transcription	Colon Smooth Muscle	Colon
9	chr19:45313600-45326400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:45313600-45326600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr19:45314000-45318600	Weak transcription	Fetal Brain Male	brain
12	chr19:45314000-45321200	Weak transcription	Liver	Liver
13	chr19:45314000-45323400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:45314000-45323600	Weak transcription	HSMMtube	muscle
15	chr19:45314200-45319400	Genic enhancers	Fetal Muscle Trunk	muscle
16	chr19:45314200-45323200	Weak transcription	Right Atrium	heart
17	chr19:45314400-45318000	Strong transcription	Ovary	ovary
18	chr19:45314400-45318600	Strong transcription	Aorta	Aorta
19	chr19:45314400-45319000	Strong transcription	NHEK	skin
20	chr19:45314600-45318800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:45314600-45319000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:45314600-45319200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr19:45314600-45322200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:45314600-45323800	Strong transcription	Fetal Stomach	stomach
25	chr19:45314600-45326200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:45314800-45319200	Strong transcription	Lung	lung
27	chr19:45314800-45319200	Strong transcription	Right Ventricle	heart
28	chr19:45315200-45318600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:45315200-45319200	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr19:45315200-45320000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:45315400-45318600	Strong transcription	Spleen	Spleen
32	chr19:45315400-45319000	Strong transcription	Gastric	stomach
33	chr19:45315800-45319000	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:45315800-45321400	Weak transcription	Colonic Mucosa	Colon
35	chr19:45315800-45324200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr19:45316200-45318600	Strong transcription	Pancreas	Pancrea
37	chr19:45316200-45319000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr19:45316200-45319200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr19:45316400-45318000	Strong transcription	NHLF	lung
40	chr19:45316400-45318800	Strong transcription	Left Ventricle	heart
41	chr19:45316400-45319200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr19:45316400-45319200	Strong transcription	Adipose Nuclei	Adipose
43	chr19:45316600-45317600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr19:45316600-45317600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:45316600-45318400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:45316600-45319200	Strong transcription	Fetal Intestine Large	intestine
47	chr19:45316600-45319200	Strong transcription	HMEC	breast
48	chr19:45316800-45317600	Strong transcription	Placenta	Placenta
49	chr19:45316800-45318000	Strong transcription	A549	lung
50	chr19:45316800-45318800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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