Variant report

Variant	rs34719599
Chromosome Location	chr17:37786312-37786313
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	CTCF	chr17:37786240-37786390	HepG2	liver:	n/a	n/a
2	CEBPB	chr17:37786228-37786609	HepG2	liver:	n/a	chr17:37786418-37786429
3	CEBPB	chr17:37786274-37786557	IMR90	lung:	n/a	chr17:37786418-37786429
4	CEBPB	chr17:37786212-37786641	HepG2	liver:	n/a	chr17:37786418-37786429
5	CEBPB	chr17:37786263-37786535	HepG2	liver:	n/a	chr17:37786418-37786429
6	CEBPB	chr17:37786241-37786670	A549	lung:	n/a	chr17:37786418-37786429
7	CEBPB	chr17:37786278-37786559	Hela-S3	cervix:	n/a	chr17:37786418-37786429
8	CEBPB	chr17:37786241-37786589	A549	lung:	n/a	chr17:37786418-37786429
9	EP300	chr17:37786258-37786599	HepG2	liver:	n/a	n/a
10	CTCF	chr17:37786300-37786450	HL-60	blood:	n/a	n/a
11	CTCF	chr17:37786237-37786483	HepG2	liver:	n/a	n/a
12	MYC	chr17:37786267-37786770	NB4	blood:	n/a	n/a
13	CEBPB	chr17:37786306-37786535	K562	blood:	n/a	chr17:37786418-37786429
14	MAX	chr17:37786247-37786723	NB4	blood:	n/a	n/a
15	CEBPB	chr17:37786243-37786511	HepG2	liver:	n/a	chr17:37786418-37786429
16	MAZ	chr17:37786296-37786429	HepG2	liver:	n/a	n/a
17	CEBPD	chr17:37786174-37786534	HepG2	liver:	n/a	n/a
18	CTCF	chr17:37786300-37786450	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:37780595..37782911-chr17:37786267..37787886,2	MCF-7	breast:
2	chr17:37782428..37784390-chr17:37785390..37788111,2	K562	blood:
3	chr17:37785506..37788397-chr17:37788916..37793369,4	K562	blood:

Variant related genes	Relation type
PPP1R1B	TF binding region
ENSG00000131771	Chromatin interaction
ENSG00000131748	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16964868	1.00[AMR][1000 genomes]
rs3194794	1.00[AFR][1000 genomes]
rs35673246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36076022	0.90[AFR][1000 genomes]
rs60599834	1.00[AFR][1000 genomes]
rs71369778	0.82[AFR][1000 genomes]
rs71369782	0.93[AFR][1000 genomes]
rs71369784	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
3	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
10	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
11	nsv908209	chr17:37749259-37790340	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv908212	chr17:37765047-37790340	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv457738	chr17:37770005-37831035	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	nsv574991	chr17:37770005-37831035	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv516757	chr17:37781849-37834541	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37778800-37790600	Weak transcription	K562	blood
2	chr17:37783400-37792200	Weak transcription	Lung	lung
3	chr17:37783600-37790600	Weak transcription	Gastric	stomach
4	chr17:37784000-37786800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:37784000-37789600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr17:37784600-37789000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr17:37784600-37792800	Weak transcription	Right Atrium	heart
8	chr17:37785000-37791000	Weak transcription	Esophagus	oesophagus
9	chr17:37785200-37786800	Enhancers	Stomach Mucosa	stomach
10	chr17:37785200-37787400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr17:37785200-37787600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr17:37785200-37787600	Weak transcription	Fetal Kidney	kidney
13	chr17:37785200-37789800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:37785200-37792800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr17:37785200-37792800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:37785400-37786400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr17:37785400-37786600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr17:37785400-37788400	Enhancers	Adipose Nuclei	Adipose
19	chr17:37785400-37792600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr17:37785600-37787000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr17:37785600-37787400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr17:37785600-37787400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr17:37785800-37787000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr17:37785800-37792400	Weak transcription	Fetal Lung	lung
25	chr17:37786000-37786400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr17:37786000-37786400	Bivalent/Poised TSS	Colonic Mucosa	Colon
27	chr17:37786000-37786400	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
28	chr17:37786000-37786600	Weak transcription	Spleen	Spleen
29	chr17:37786000-37786600	Flanking Bivalent TSS/Enh	HepG2	liver
30	chr17:37786000-37786800	Enhancers	Placenta	Placenta
31	chr17:37786000-37786800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
32	chr17:37786000-37787000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr17:37786000-37787000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr17:37786000-37787000	Enhancers	Primary B cells from cord blood	blood
35	chr17:37786000-37787000	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr17:37786000-37787400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr17:37786000-37788200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr17:37786000-37788600	Enhancers	Pancreas	Pancrea
39	chr17:37786200-37786400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr17:37786200-37786400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:37786200-37786400	Active TSS	Brain Substantia Nigra	brain
42	chr17:37786200-37786800	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
43	chr17:37786200-37786800	Strong transcription	Fetal Intestine Small	intestine
44	chr17:37786200-37786800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr17:37786200-37787400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr17:37786200-37787400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr17:37786200-37787400	Weak transcription	Fetal Intestine Large	intestine

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