Variant report

Variant	rs475304
Chromosome Location	chr8:102516504-102516505
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102478587..102479594-chr8:102515984..102516996,19	MCF-7	breast:
2	chr8:102504396..102505373-chr8:102516475..102517358,2	MCF-7	breast:
3	chr8:102478587..102479629-chr8:102515945..102517013,32	MCF-7	breast:
4	chr8:102516021..102516868-chr8:102527623..102528281,4	MCF-7	breast:
5	chr8:102379405..102382684-chr8:102515445..102518686,3	MCF-7	breast:
6	chr8:102516348..102516877-chr8:103820347..103821111,2	MCF-7	breast:
7	chr8:102326841..102405579-chr8:102488885..102536287,493	MCF-7	breast:
8	chr8:102514177..102518015-chr8:102614637..102617886,5	MCF-7	breast:
9	chr8:102516026..102516793-chr8:102526276..102527296,5	MCF-7	breast:
10	chr17:56717067..56717659-chr8:102516288..102516882,3	MCF-7	breast:
11	chr8:102515411..102517967-chr8:103250773..103252332,2	MCF-7	breast:
12	chr8:102513814..102516595-chr8:102524555..102526490,2	K562	blood:
13	chr8:102505755..102506289-chr8:102515732..102516570,2	MCF-7	breast:
14	chr8:102486318..102486860-chr8:102516252..102516868,2	MCF-7	breast:
15	chr8:102132627..102133593-chr8:102516039..102516907,2	MCF-7	breast:
16	chr8:102132719..102133605-chr8:102516006..102516561,3	MCF-7	breast:
17	chr8:102340534..102342467-chr8:102514047..102516934,2	MCF-7	breast:
18	chr8:102371917..102374084-chr8:102515105..102517090,2	MCF-7	breast:
19	chr8:102516454..102518219-chr8:102642884..102645952,3	MCF-7	breast:
20	chr8:102516064..102516992-chr8:102524157..102525197,5	MCF-7	breast:
21	chr8:102478675..102479559-chr8:102515969..102517061,7	MCF-7	breast:
22	chr8:102132609..102133605-chr8:102516006..102516932,8	MCF-7	breast:
23	chr8:102516026..102516954-chr8:102526523..102527296,3	MCF-7	breast:
24	chr8:68293035..68293850-chr8:102516047..102516557,2	MCF-7	breast:
25	chr8:102516000..102517043-chr8:102527453..102528425,9	MCF-7	breast:
26	chr8:102515552..102517978-chr8:102590842..102593312,2	MCF-7	breast:
27	chr8:102356607..102359345-chr8:102514811..102517702,2	MCF-7	breast:
28	chr8:102513989..102516811-chr8:103250501..103252743,2	MCF-7	breast:
29	chr8:102516227..102516848-chr8:102524542..102525181,2	MCF-7	breast:
30	chr8:102515951..102516893-chr8:102527547..102528386,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000271560	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000253644	Chromatin interaction
ENSG00000254063	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000228224	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2847730	1.00[ASN][1000 genomes]
rs509390	0.88[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs514588	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs515622	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs523244	0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs534285	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs537658	0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs541154	0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs541226	0.88[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs546630	0.80[ASN][1000 genomes]
rs560043	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs561626	0.94[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs567389	0.80[ASN][1000 genomes]
rs568894	0.94[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs589919	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs624013	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs680890	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs687399	0.80[ASN][1000 genomes]
rs687909	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024652	chr8:101802121-102587124	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
2	nsv539699	chr8:101802121-102587124	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102507400-102526600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:102511800-102517400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:102513800-102517000	Weak transcription	Aorta	Aorta
4	chr8:102514000-102516600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:102514000-102516600	Weak transcription	HSMM	muscle
6	chr8:102514000-102516800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:102514000-102517000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:102514000-102517000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:102514000-102517000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr8:102514000-102517800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:102514200-102516600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:102514400-102516600	Weak transcription	Fetal Intestine Large	intestine
13	chr8:102514600-102517600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:102514600-102517600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:102514800-102516600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:102514800-102516600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:102514800-102516600	Weak transcription	Small Intestine	intestine
18	chr8:102514800-102517200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:102514800-102517800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:102514800-102518400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr8:102514800-102518400	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:102514800-102526600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:102515000-102516600	Weak transcription	Stomach Mucosa	stomach
24	chr8:102515000-102517400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr8:102515000-102517400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr8:102515000-102520800	Weak transcription	Fetal Lung	lung
27	chr8:102515200-102517400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:102515400-102516600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:102516000-102516600	Bivalent Enhancer	Fetal Kidney	kidney
30	chr8:102516000-102516800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr8:102516200-102516600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:102516200-102517200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:102516200-102517200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:102516200-102517200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:102516400-102516600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:102516400-102516600	Enhancers	Esophagus	oesophagus
37	chr8:102516400-102516600	Enhancers	Fetal Heart	heart
38	chr8:102516400-102516600	Enhancers	GM12878-XiMat	blood
39	chr8:102516400-102516800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr8:102516400-102516800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:102516400-102516800	Flanking Active TSS	A549	lung
42	chr8:102516400-102516800	Enhancers	Hela-S3	cervix
43	chr8:102516400-102517200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:102516400-102517200	Enhancers	Fetal Intestine Small	intestine
45	chr8:102516400-102517200	Enhancers	Gastric	stomach
46	chr8:102516400-102517200	Enhancers	Pancreas	Pancrea
47	chr8:102516400-102517200	Enhancers	Psoas Muscle	Psoas
48	chr8:102516400-102517200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr8:102516400-102517200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr8:102516400-102517200	Flanking Active TSS	NHEK	skin

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