Variant report

Variant	rs1107794
Chromosome Location	chr17:37823600-37823601
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	E2F6	chr17:37823213-37824200	K562	blood:	n/a	chr17:37823412-37823422 chr17:37823830-37823841
2	JUN	chr17:37822708-37824178	K562	blood:	n/a	chr17:37823320-37823329 chr17:37823320-37823330 chr17:37823721-37823735
3	POLR2A	chr17:37823556-37825166	K562	blood:	n/a	n/a
4	POLR2A	chr17:37823100-37824994	K562	blood:	n/a	n/a
5	ZBTB7A	chr17:37823027-37825041	K562	blood:	n/a	chr17:37824004-37824012 chr17:37824015-37824026 chr17:37824298-37824305
6	GATA1	chr17:37823373-37824111	PBDE	blood:	n/a	chr17:37823866-37823883 chr17:37823959-37823968
7	NR3C1	chr17:37823081-37823613	A549	lung:	n/a	n/a
8	RCOR1	chr17:37823151-37825237	K562	blood:	n/a	n/a
9	ZBTB7A	chr17:37823087-37823787	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr17:37819928-37825272	K562	blood:	n/a	n/a
11	MYC	chr17:37823239-37825086	K562	blood:	n/a	chr17:37824602-37824611 chr17:37823321-37823330
12	HEY1	chr17:37823574-37824200	K562	blood:	n/a	chr17:37823735-37823750
13	HDAC2	chr17:37823121-37824141	K562	blood:	n/a	chr17:37823876-37823885
14	ZBTB7A	chr17:37822966-37824999	K562	blood:	n/a	chr17:37824004-37824012 chr17:37824015-37824026 chr17:37824298-37824305
15	NR2F2	chr17:37822571-37824231	K562	blood:	n/a	n/a
16	POLR2A	chr17:37822690-37824064	K562	blood:	n/a	n/a
17	RCOR1	chr17:37823428-37824009	K562	blood:	n/a	n/a
18	CCNT2	chr17:37823497-37824187	K562	blood:	n/a	chr17:37824123-37824132 chr17:37823776-37823785
19	MAZ	chr17:37822599-37825070	K562	blood:	n/a	chr17:37824602-37824611 chr17:37823321-37823330
20	IRF1	chr17:37823122-37824145	K562	blood:	n/a	chr17:37824122-37824136
21	HMGN3	chr17:37823549-37824168	K562	blood:	n/a	chr17:37823876-37823883
22	TCF12	chr17:37822949-37823626	A549	lung:	n/a	chr17:37823060-37823067 chr17:37823058-37823065
23	NR3C1	chr17:37823123-37824187	A549	lung:	n/a	chr17:37823836-37823850 chr17:37824032-37824049 chr17:37824042-37824051 chr17:37824033-37824050 chr17:37823793-37823806 chr17:37824034-37824048 chr17:37824030-37824051 chr17:37824034-37824048
24	MAX	chr17:37823177-37825116	K562	blood:	n/a	chr17:37824602-37824611 chr17:37823321-37823330
25	POLR2A	chr17:37823211-37825009	K562	blood:	n/a	n/a
26	POLR2A	chr17:37823578-37824333	K562	blood:	n/a	n/a
27	JUND	chr17:37823117-37824167	K562	blood:	n/a	chr17:37823320-37823329 chr17:37823320-37823330 chr17:37823721-37823735 chr17:37823319-37823330
28	GATA2	chr17:37823455-37824145	SH-SY5Y	brain:	n/a	chr17:37823866-37823883 chr17:37823959-37823968
29	MYC	chr17:37823192-37824168	K562	blood:	n/a	chr17:37823321-37823330
30	TEAD4	chr17:37823124-37824187	K562	blood:	n/a	n/a
31	POLR2A	chr17:37822471-37825024	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:37822303..37824126-chr17:37856298..37859081,2	K562	blood:
2	chr17:37820932..37826284-chr17:37838504..37843351,7	K562	blood:
3	chr17:37775807..37781695-chr17:37822673..37828377,10	K562	blood:
4	chr17:37791520..37796368-chr17:37822308..37826994,8	K562	blood:
5	chr17:37821804..37826261-chr17:37885454..37888153,4	K562	blood:
6	chr17:37809503..37812375-chr17:37822536..37826640,4	K562	blood:
7	chr17:37702516..37704166-chr17:37823518..37825070,2	K562	blood:
8	chr17:37777756..37783081-chr17:37819129..37825010,9	K562	blood:

Variant related genes	Relation type
PNMT	TF binding region
ENSG00000131771	Chromatin interaction
ENSG00000141741	Chromatin interaction
ENSG00000131748	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000161395	Chromatin interaction
ENSG00000167258	Chromatin interaction
ENSG00000214546	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1874224	0.83[AFR][1000 genomes]
rs2952150	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34554211	0.83[AFR][1000 genomes]
rs59438000	0.86[AFR][1000 genomes]
rs68087665	0.88[AFR][1000 genomes]

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	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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	esv1792029	chr17:37797757-37886460	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv908213	chr17:37807698-37839493	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
13	nsv528093	chr17:37814080-37866005	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv908214	chr17:37814224-37861833	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv908215	chr17:37818561-37834541	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
16	esv3377948	chr17:37823251-37825999	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37795000-37823800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr17:37818400-37823600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr17:37819200-37825200	Enhancers	Liver	Liver
4	chr17:37819400-37823600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr17:37819600-37823800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr17:37819600-37824200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:37820400-37825200	Enhancers	Brain Angular Gyrus	brain
8	chr17:37820600-37824000	Enhancers	HSMMtube	muscle
9	chr17:37821000-37823600	Enhancers	Fetal Brain Male	brain
10	chr17:37821000-37823800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr17:37821000-37824400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
12	chr17:37821200-37824600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
13	chr17:37821600-37823600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
14	chr17:37821600-37824000	Bivalent Enhancer	Brain Germinal Matrix	brain
15	chr17:37821600-37824600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
16	chr17:37821800-37823600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr17:37821800-37824400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr17:37821800-37825200	Active TSS	Psoas Muscle	Psoas
19	chr17:37822000-37823600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr17:37822000-37823600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
21	chr17:37822000-37823800	Enhancers	Brain Substantia Nigra	brain
22	chr17:37822000-37824400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
23	chr17:37822000-37824600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:37822000-37825200	Enhancers	Lung	lung
25	chr17:37822200-37823600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
26	chr17:37822200-37823600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
27	chr17:37822200-37823800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
28	chr17:37822200-37823800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr17:37822200-37823800	Bivalent Enhancer	Placenta	Placenta
30	chr17:37822400-37823600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:37822400-37823800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr17:37822400-37824000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr17:37822600-37823600	Flanking Active TSS	Fetal Heart	heart
34	chr17:37822600-37823800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
35	chr17:37822600-37823800	Bivalent Enhancer	Fetal Lung	lung
36	chr17:37822600-37823800	Enhancers	Hela-S3	cervix
37	chr17:37822600-37824000	Bivalent Enhancer	Fetal Intestine Small	intestine
38	chr17:37822600-37824000	Enhancers	Ovary	ovary
39	chr17:37822800-37823800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr17:37822800-37824200	Enhancers	Gastric	stomach
41	chr17:37822800-37824600	Enhancers	Pancreas	Pancrea
42	chr17:37822800-37824800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr17:37823000-37823600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
44	chr17:37823000-37823600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
45	chr17:37823000-37823600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
46	chr17:37823000-37823600	Enhancers	Fetal Brain Female	brain
47	chr17:37823000-37823600	Flanking Active TSS	Right Atrium	heart
48	chr17:37823000-37823800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr17:37823000-37823800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
50	chr17:37823000-37823800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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