Variant report

Variant	rs3757033
Chromosome Location	chr6:161696163-161696164
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	MYC	chr6:161694189-161696197	K562	blood:	n/a	chr6:161694609-161694619 chr6:161694521-161694530 chr6:161695769-161695778 chr6:161695770-161695777 chr6:161694808-161694818
2	MYC	chr6:161694831-161696187	K562	blood:	n/a	chr6:161695769-161695778 chr6:161695770-161695777
3	MAX	chr6:161695535-161696187	H1-hESC	embryonic stem cell:	n/a	chr6:161695769-161695778 chr6:161695770-161695777
4	POLR2A	chr6:161688789-161696223	IMR90	lung:	n/a	n/a
5	POLR2A	chr6:161694158-161696272	H1-neurons	neurons:	n/a	n/a
6	MXI1	chr6:161693675-161696208	SK-N-SH	brain:	n/a	chr6:161694519-161694534 chr6:161694521-161694536 chr6:161694324-161694339
7	MYC	chr6:161695716-161696189	MCF10A-Er-Src	breast:	n/a	chr6:161695769-161695778 chr6:161695770-161695777
8	POLR2A	chr6:161696135-161696257	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:161695256..161697012-chr6:161781193..161782822,2	K562	blood:
2	chr6:161695125..161696758-chr6:161719805..161722381,2	K562	blood:
3	chr6:161695295..161697875-chr6:161769720..161771302,2	K562	blood:
4	chr6:161626044..161628173-chr6:161695220..161697294,2	K562	blood:
5	chr6:161695922..161697922-chr6:161715193..161717885,2	K562	blood:
6	chr6:161663033..161665042-chr6:161695246..161697191,2	K562	blood:
7	chr6:161411809..161413437-chr6:161693885..161696604,2	K562	blood:

Variant related genes	Relation type
AGPAT4	TF binding region
ENSG00000272841	Chromatin interaction
ENSG00000085511	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12190239	0.82[CHB][hapmap]
rs12202278	0.82[CHB][hapmap]
rs12207275	0.82[CHB][hapmap]
rs16892376	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34784502	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757038	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798950	0.85[ASN][1000 genomes]
rs3798953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3798956	0.90[ASN][1000 genomes]
rs3823058	1.00[CHB][hapmap]
rs55977455	0.85[ASN][1000 genomes]
rs62437578	0.85[ASN][1000 genomes]
rs62437580	0.90[ASN][1000 genomes]
rs62437582	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6455713	0.82[CHB][hapmap]
rs6914451	0.92[ASN][1000 genomes]
rs9458175	0.87[ASN][1000 genomes]
rs9458179	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv949397	chr6:161592100-161812932	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv2752091	chr6:161592100-161855785	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1029727	chr6:161607680-161814295	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1030623	chr6:161611170-161796985	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv538494	chr6:161611170-161796985	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv886818	chr6:161629323-161723705	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv481931	chr6:161647026-161961906	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv533149	chr6:161653240-161769727	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv1031234	chr6:161676768-162250726	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv869611	chr6:161690974-161817564	Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161694000-161696200	Active TSS	NHDF-Ad	bronchial
2	chr6:161695400-161696200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:161695400-161696200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:161695400-161696200	Flanking Active TSS	Fetal Brain Male	brain
5	chr6:161695600-161696200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:161695600-161696200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:161695800-161696200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr6:161695800-161696200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:161695800-161696200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:161695800-161696200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:161695800-161696200	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:161695800-161696200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr6:161695800-161696200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr6:161695800-161696200	Enhancers	Brain Angular Gyrus	brain
15	chr6:161695800-161696200	Enhancers	Brain Cingulate Gyrus	brain
16	chr6:161695800-161696200	Enhancers	Brain Hippocampus Middle	brain
17	chr6:161695800-161696200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr6:161695800-161696200	Enhancers	Fetal Kidney	kidney
19	chr6:161695800-161696200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr6:161695800-161696200	Enhancers	K562	blood
21	chr6:161695800-161696400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:161695800-161696400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:161695800-161696400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:161695800-161696800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:161695800-161699600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:161695800-161700400	Weak transcription	Fetal Lung	lung
27	chr6:161695800-161701000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:161696000-161696200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:161696000-161696200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:161696000-161696200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr6:161696000-161696200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:161696000-161696200	Enhancers	Brain Germinal Matrix	brain
33	chr6:161696000-161696200	Enhancers	Fetal Brain Female	brain
34	chr6:161696000-161696200	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr6:161696000-161696200	Flanking Active TSS	Osteobl	bone
36	chr6:161696000-161700600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:161696000-161705600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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