Variant report

Variant	rs7212543
Chromosome Location	chr17:38677180-38677181
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	MAZ	chr17:38676785-38679269	IMR90	lung:	n/a	chr17:38676819-38676828 chr17:38676817-38676825 chr17:38676821-38676828 chr17:38677127-38677137
2	POLR2A	chr17:38677070-38677741	A549	lung:	n/a	n/a
3	SMARCC1	chr17:38676841-38678463	Hela-S3	cervix:	n/a	chr17:38678117-38678126
4	GATA3	chr17:38677036-38678353	A549	lung:	n/a	n/a
5	REST	chr17:38677132-38678934	A549	lung:	n/a	chr17:38678520-38678528 chr17:38677137-38677151 chr17:38677174-38677187 chr17:38677903-38677921
6	TCF12	chr17:38676988-38680080	A549	lung:	n/a	chr17:38677183-38677190
7	RCOR1	chr17:38676712-38679035	IMR90	lung:	n/a	n/a
8	BCL3	chr17:38676937-38678422	A549	lung:	n/a	n/a
9	EP300	chr17:38677075-38678662	A549	lung:	n/a	chr17:38677984-38677997
10	POLR2A	chr17:38677137-38677233	MCF-7	breast:	n/a	n/a
11	NR3C1	chr17:38677175-38678441	A549	lung:	n/a	chr17:38678117-38678126
12	MAX	chr17:38676917-38678690	A549	lung:	n/a	chr17:38677127-38677137

No.	Distal block	Cell Line	Cell type
1	chr17:38676796..38678412-chr17:38763235..38765302,2	MCF-7	breast:
2	chr17:38654640..38659414-chr17:38673768..38679140,6	MCF-7	breast:
3	chr17:38647398..38649761-chr17:38676727..38678938,2	K562	blood:
4	chr17:38600130..38602545-chr17:38675909..38679796,4	MCF-7	breast:
5	chr17:38676325..38680650-chr17:38704875..38709448,7	MCF-7	breast:
6	chr17:38676381..38678576-chr17:38679743..38681770,2	K562	blood:
7	chr17:38569801..38571878-chr17:38675987..38678508,2	K562	blood:
8	chr17:38629814..38633387-chr17:38676751..38679736,4	MCF-7	breast:
9	chr17:38675352..38677497-chr17:38677864..38681564,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGFBP4-1	chr17:38676964-38677352	NONHSAT053554

Variant related genes	Relation type
ENSG00000266088	TF binding region
ENSG00000131746	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1072070	1.00[ASN][1000 genomes]
rs11871009	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28493507	1.00[AMR][1000 genomes]
rs4890086	1.00[CEU][hapmap]
rs4890088	0.83[ASN][1000 genomes]
rs499490	1.00[CEU][hapmap]
rs594783	1.00[CEU][hapmap]
rs60411936	1.00[ASN][1000 genomes]
rs7208120	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[ASN][1000 genomes]
rs7208316	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs7219622	1.00[CHB][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7221799	0.82[YRI][hapmap];0.86[AMR][1000 genomes]
rs73983076	0.83[ASN][1000 genomes]
rs73983078	1.00[ASN][1000 genomes]
rs8064741	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs8066508	1.00[CEU][hapmap]
rs8069091	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8077724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9675320	1.00[CHB][hapmap]
rs9895221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9901176	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9901908	0.87[YRI][hapmap];0.82[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058185	chr17:38629339-38689908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38666800-38677400	Weak transcription	Right Atrium	heart
2	chr17:38668200-38677400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr17:38668400-38680600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:38671400-38679800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:38671600-38679400	Enhancers	Placenta	Placenta
6	chr17:38672200-38679200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr17:38672600-38680800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr17:38672800-38679200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr17:38673600-38677400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr17:38673600-38678200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr17:38673800-38678200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:38674000-38679200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:38674200-38681200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr17:38674600-38677800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr17:38674600-38678000	Weak transcription	Thymus	Thymus
16	chr17:38674800-38677400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr17:38675000-38677200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:38675000-38677400	Enhancers	Primary B cells from cord blood	blood
19	chr17:38675000-38679400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr17:38675200-38677200	Weak transcription	Osteobl	bone
21	chr17:38675400-38677400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr17:38675400-38677400	Enhancers	A549	lung
23	chr17:38675400-38677400	Weak transcription	HUVEC	blood vessel
24	chr17:38675400-38677800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr17:38675400-38679200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr17:38675400-38680800	Enhancers	HMEC	breast
27	chr17:38675600-38677600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr17:38675600-38686600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr17:38675800-38677200	Weak transcription	NHDF-Ad	bronchial
30	chr17:38675800-38677400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr17:38675800-38677600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr17:38675800-38677600	Weak transcription	Stomach Mucosa	stomach
33	chr17:38675800-38679200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr17:38676000-38677200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr17:38676000-38677200	Enhancers	Hela-S3	cervix
36	chr17:38676000-38677200	Weak transcription	NH-A	brain
37	chr17:38676000-38677400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr17:38676000-38677400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr17:38676000-38677400	Weak transcription	K562	blood
40	chr17:38676000-38677600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:38676000-38677800	Weak transcription	Lung	lung
42	chr17:38676200-38677200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr17:38676200-38677200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr17:38676200-38677200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr17:38676200-38677200	Weak transcription	Esophagus	oesophagus
46	chr17:38676200-38677400	Weak transcription	Fetal Thymus	thymus
47	chr17:38676200-38678000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr17:38676400-38677400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr17:38676600-38677800	Enhancers	HepG2	liver
50	chr17:38676800-38677600	Transcr. at gene 5' and 3'	NHEK	skin

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