Variant report

Variant	rs446575
Chromosome Location	chr17:63104084-63104085
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:63035178..63037287-chr17:63102976..63105105,2	MCF-7	breast:
2	chr17:63051324..63054439-chr17:63103781..63105760,3	MCF-7	breast:
3	chr17:63103004..63106074-chr17:63118329..63120568,5	MCF-7	breast:
4	chr17:62965395..62967905-chr17:63101570..63104162,3	MCF-7	breast:
5	chr17:63097331..63099925-chr17:63102764..63104387,2	MCF-7	breast:
6	chr17:63103464..63106630-chr17:63116614..63119834,3	K562	blood:
7	chr17:63097236..63098868-chr17:63102813..63104467,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120063	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17688887	1.00[YRI][hapmap]
rs299821	1.00[YRI][hapmap]
rs299824	1.00[JPT][hapmap]
rs299826	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066765	chr17:62649313-63124303	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv575872	chr17:63084995-63111452	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv112229	chr17:63095123-63104894	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63097400-63112000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:63097600-63111800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr17:63097800-63107000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:63097800-63107400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:63097800-63112200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr17:63099200-63104400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr17:63099400-63104200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr17:63100600-63104400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:63101800-63104200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:63101800-63104200	Enhancers	Brain Germinal Matrix	brain
11	chr17:63102200-63104600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr17:63102400-63104400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:63102400-63104400	Enhancers	HMEC	breast
14	chr17:63102400-63104400	Enhancers	NHEK	skin
15	chr17:63103000-63104200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr17:63103000-63118800	Weak transcription	Aorta	Aorta
17	chr17:63103200-63104200	Enhancers	Brain Hippocampus Middle	brain
18	chr17:63103200-63104400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr17:63103200-63105000	Weak transcription	Pancreas	Pancrea
20	chr17:63103200-63105800	Weak transcription	Esophagus	oesophagus
21	chr17:63103200-63107800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr17:63103200-63108200	Weak transcription	A549	lung
23	chr17:63103200-63108600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr17:63103200-63112400	Weak transcription	Ovary	ovary
25	chr17:63103200-63118400	Weak transcription	Left Ventricle	heart
26	chr17:63103200-63118800	Weak transcription	Right Atrium	heart
27	chr17:63103400-63105000	Weak transcription	Spleen	Spleen
28	chr17:63103400-63105200	Weak transcription	Fetal Lung	lung
29	chr17:63103400-63105800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:63103400-63105800	Weak transcription	Adipose Nuclei	Adipose
31	chr17:63103400-63107200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr17:63103400-63107400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr17:63103400-63109800	Weak transcription	Fetal Stomach	stomach
34	chr17:63103400-63118600	Weak transcription	Brain Anterior Caudate	brain
35	chr17:63103400-63118600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr17:63103800-63118600	Weak transcription	Psoas Muscle	Psoas
37	chr17:63104000-63104200	Enhancers	NHDF-Ad	bronchial
38	chr17:63104000-63105200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr17:63104000-63108800	Weak transcription	Fetal Muscle Leg	muscle
40	chr17:63104000-63118600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr17:63104000-63118800	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links