Variant report

Variant	rs544829
Chromosome Location	chr17:67315508-67315509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:67314877..67316596-chr17:73774432..73776155,2	MCF-7	breast:
2	chr17:67306645..67309454-chr17:67315201..67317494,2	MCF-7	breast:
3	chr17:67302738..67306142-chr17:67312679..67315678,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132475	Chromatin interaction
ENSG00000154265	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1558169	1.00[AMR][1000 genomes]
rs16973838	1.00[AMR][1000 genomes]
rs487382	1.00[AMR][1000 genomes]
rs511854	1.00[AMR][1000 genomes]
rs520754	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs533899	1.00[AMR][1000 genomes]
rs544261	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs564426	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs568354	1.00[AMR][1000 genomes]
rs7208246	1.00[AMR][1000 genomes]
rs7215788	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv575932	chr17:67149973-67327806	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv457889	chr17:67210992-67332355	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
3	nsv575934	chr17:67210992-67332355	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
4	nsv833527	chr17:67240575-67400871	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv575935	chr17:67256162-67327806	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
6	nsv457890	chr17:67264339-67327806	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
7	nsv575936	chr17:67264339-67327806	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
8	nsv908706	chr17:67290840-67332355	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
9	nsv575937	chr17:67304447-67327806	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67244000-67321800	Weak transcription	Right Ventricle	heart
2	chr17:67261400-67322000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:67285000-67316200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:67290000-67317400	Weak transcription	Gastric	stomach
5	chr17:67290200-67319600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr17:67291800-67321800	Weak transcription	Esophagus	oesophagus
7	chr17:67293200-67315600	Weak transcription	GM12878-XiMat	blood
8	chr17:67297000-67319400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:67297000-67321800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr17:67304200-67321800	Weak transcription	HUVEC	blood vessel
11	chr17:67305200-67321600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:67306000-67321800	Weak transcription	Placenta	Placenta
13	chr17:67306400-67321000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr17:67306600-67319600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr17:67307000-67321800	Weak transcription	Left Ventricle	heart
16	chr17:67307000-67321800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr17:67307200-67318800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr17:67307200-67319000	Weak transcription	Fetal Intestine Large	intestine
19	chr17:67307200-67321800	Weak transcription	Thymus	Thymus
20	chr17:67307600-67316000	Weak transcription	NHDF-Ad	bronchial
21	chr17:67308000-67321200	Weak transcription	Fetal Intestine Small	intestine
22	chr17:67310200-67321000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr17:67310800-67316200	Weak transcription	Osteobl	bone
24	chr17:67311000-67315600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr17:67311000-67315800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr17:67311000-67316400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr17:67311000-67322000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr17:67311200-67315800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr17:67311200-67319000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr17:67311200-67319400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr17:67311200-67320400	Weak transcription	Pancreas	Pancrea
32	chr17:67311200-67320400	Weak transcription	Psoas Muscle	Psoas
33	chr17:67311200-67321800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr17:67311200-67322000	Weak transcription	Brain Anterior Caudate	brain
35	chr17:67311400-67316800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr17:67311400-67319200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:67313800-67319200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr17:67314000-67320400	Weak transcription	HMEC	breast
39	chr17:67314000-67321600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr17:67314200-67321600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr17:67315000-67315800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr17:67315000-67316800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr17:67315000-67317000	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr17:67315200-67315800	Enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links