Variant report

Variant	rs3194794
Chromosome Location	chr17:37822739-37822740
allele	A/C/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	BCL3	chr17:37821874-37822887	A549	lung:	n/a	chr17:37821930-37821938
2	JUN	chr17:37822708-37824178	K562	blood:	n/a	chr17:37823320-37823329 chr17:37823320-37823330 chr17:37823721-37823735
3	POLR2A	chr17:37819937-37822773	K562	blood:	n/a	n/a
4	POLR2A	chr17:37819928-37825272	K562	blood:	n/a	n/a
5	NR2F2	chr17:37822571-37824231	K562	blood:	n/a	n/a
6	POLR2A	chr17:37822690-37824064	K562	blood:	n/a	n/a
7	MAZ	chr17:37822599-37825070	K562	blood:	n/a	chr17:37824602-37824611 chr17:37823321-37823330
8	POLR2A	chr17:37821598-37822764	H1-hESC	embryonic stem cell:	n/a	n/a
9	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	chr17:37777756..37783081-chr17:37819129..37825010,9	K562	blood:

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs34719599	1.00[AFR][1000 genomes]
rs35673246	1.00[AFR][1000 genomes]
rs36076022	0.90[AFR][1000 genomes]
rs60599834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71369778	0.82[AFR][1000 genomes]
rs71369782	0.93[AFR][1000 genomes]
rs71369784	1.00[AFR][1000 genomes];1.00[AMR][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	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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37795000-37823800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr17:37817000-37823000	Weak transcription	GM12878-XiMat	blood
3	chr17:37817600-37823400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr17:37818200-37823000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr17:37818400-37823600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr17:37819200-37825200	Enhancers	Liver	Liver
7	chr17:37819400-37823000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr17:37819400-37823200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:37819400-37823200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr17:37819400-37823600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:37819600-37822800	Weak transcription	Primary T cells from cord blood	blood
12	chr17:37819600-37823400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr17:37819600-37823800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr17:37819600-37824200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:37819800-37823000	Enhancers	Brain Anterior Caudate	brain
16	chr17:37820400-37823000	Enhancers	Brain Hippocampus Middle	brain
17	chr17:37820400-37825200	Enhancers	Brain Angular Gyrus	brain
18	chr17:37820600-37822800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr17:37820600-37823000	Enhancers	K562	blood
20	chr17:37820600-37823200	Enhancers	A549	lung
21	chr17:37820600-37823400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:37820600-37824000	Enhancers	HSMMtube	muscle
23	chr17:37820800-37822800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr17:37820800-37823000	Weak transcription	Fetal Brain Female	brain
25	chr17:37820800-37823000	Active TSS	Right Atrium	heart
26	chr17:37820800-37823400	Active TSS	Left Ventricle	heart
27	chr17:37821000-37823200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr17:37821000-37823600	Enhancers	Fetal Brain Male	brain
29	chr17:37821000-37823800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr17:37821000-37824400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
31	chr17:37821200-37823400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:37821200-37824600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr17:37821600-37823000	Enhancers	HSMM	muscle
34	chr17:37821600-37823600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
35	chr17:37821600-37824000	Bivalent Enhancer	Brain Germinal Matrix	brain
36	chr17:37821600-37824600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
37	chr17:37821800-37823400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr17:37821800-37823400	Bivalent Enhancer	HepG2	liver
39	chr17:37821800-37823600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr17:37821800-37824400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr17:37821800-37825200	Active TSS	Psoas Muscle	Psoas
42	chr17:37822000-37823600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr17:37822000-37823600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
44	chr17:37822000-37823800	Enhancers	Brain Substantia Nigra	brain
45	chr17:37822000-37824400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
46	chr17:37822000-37824600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:37822000-37825200	Enhancers	Lung	lung
48	chr17:37822200-37822800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr17:37822200-37822800	Weak transcription	Gastric	stomach
50	chr17:37822200-37823200	Bivalent Enhancer	Adipose Nuclei	Adipose

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