Variant report

Variant	rs7249750
Chromosome Location	chr19:45314767-45314768
allele	C/T
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	chr19:45314544-45314804	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:45314362..45315171-chr19:45348110..45348929,2	K562	blood:

Variant related genes	Relation type
BCAM	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10408993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1075643	0.98[EUR][1000 genomes]
rs16979372	1.00[CHB][hapmap]
rs28534944	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2927455	1.00[CEU][hapmap]
rs2927478	1.00[CHB][hapmap];0.85[CHD][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2927479	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2965161	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2967671	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810140	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810141	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73572003	1.00[ASN][1000 genomes]
rs73572006	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8113171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv912119	chr19:45304307-45317089	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Weak transcription 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
4	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
5	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
6	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
7	nsv579862	chr19:45310319-45316807	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	nsv912126	chr19:45311523-45317089	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv912127	chr19:45312114-45316807	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45313000-45316400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:45313000-45316600	Weak transcription	HUVEC	blood vessel
3	chr19:45313000-45318200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr19:45313000-45319000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr19:45313000-45320400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr19:45313000-45325400	Weak transcription	Brain Hippocampus Middle	brain
7	chr19:45313400-45314800	Enhancers	Pancreas	Pancrea
8	chr19:45313400-45315400	Weak transcription	Gastric	stomach
9	chr19:45313400-45316400	Weak transcription	NHLF	lung
10	chr19:45313400-45316800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:45313400-45321200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr19:45313400-45321600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr19:45313600-45314800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr19:45313600-45315600	Weak transcription	Colonic Mucosa	Colon
15	chr19:45313600-45316600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:45313600-45317000	Enhancers	Fetal Heart	heart
17	chr19:45313600-45322800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr19:45313600-45323400	Weak transcription	Colon Smooth Muscle	Colon
19	chr19:45313600-45326400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:45313600-45326600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr19:45313800-45314800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:45313800-45314800	Genic enhancers	Right Ventricle	heart
23	chr19:45313800-45316800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:45313800-45316800	Weak transcription	A549	lung
25	chr19:45314000-45314800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr19:45314000-45315600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:45314000-45316400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr19:45314000-45316400	Weak transcription	Left Ventricle	heart
29	chr19:45314000-45316600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr19:45314000-45316800	Weak transcription	Fetal Lung	lung
31	chr19:45314000-45316800	Weak transcription	Placenta	Placenta
32	chr19:45314000-45318600	Weak transcription	Fetal Brain Male	brain
33	chr19:45314000-45321200	Weak transcription	Liver	Liver
34	chr19:45314000-45323400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:45314000-45323600	Weak transcription	HSMMtube	muscle
36	chr19:45314200-45315200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:45314200-45315200	Weak transcription	Fetal Intestine Large	intestine
38	chr19:45314200-45315400	Weak transcription	Spleen	Spleen
39	chr19:45314200-45315600	Genic enhancers	Fetal Muscle Leg	muscle
40	chr19:45314200-45315800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr19:45314200-45316400	Weak transcription	Adipose Nuclei	Adipose
42	chr19:45314200-45316400	Weak transcription	Esophagus	oesophagus
43	chr19:45314200-45316800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr19:45314200-45316800	Genic enhancers	Fetal Intestine Small	intestine
45	chr19:45314200-45316800	Weak transcription	Fetal Kidney	kidney
46	chr19:45314200-45319400	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr19:45314200-45323200	Weak transcription	Right Atrium	heart
48	chr19:45314400-45314800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:45314400-45315200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:45314400-45315200	Weak transcription	Stomach Smooth Muscle	stomach

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