Variant report

Variant	rs10956929
Chromosome Location	chr8:95891453-95891454
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95836017..95837740-chr8:95890553..95892391,2	MCF-7	breast:
2	chr8:95888903..95890980-chr8:95891113..95893435,2	MCF-7	breast:
3	chr8:95888387..95890433-chr8:95891147..95893530,2	K562	blood:
4	chr8:95883930..95886781-chr8:95890663..95894129,3	K562	blood:
5	chr8:95834032..95835949-chr8:95890764..95892925,2	MCF-7	breast:
6	chr8:95890092..95892791-chr8:95893450..95895863,3	MCF-7	breast:
7	chr8:95856905..95859854-chr8:95889199..95892005,2	K562	blood:
8	chr8:95890909..95893212-chr8:95896722..95899168,3	K562	blood:
9	chr8:95890906..95892878-chr8:95897475..95900324,2	MCF-7	breast:
10	chr8:95890413..95893723-chr8:95897125..95900622,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272509	Chromatin interaction
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10086284	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs10091683	0.92[EUR][1000 genomes]
rs10098778	0.85[CHB][hapmap]
rs10099941	0.85[CHB][hapmap]
rs10104909	0.85[CHB][hapmap]
rs1011795	0.82[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap]
rs1011796	0.82[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap]
rs10956928	0.84[ASW][hapmap];0.84[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10956930	0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10956931	0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.91[ASN][1000 genomes]
rs10956932	0.84[CEU][hapmap];0.85[CHB][hapmap];0.96[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs11784717	0.86[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.80[TSI][hapmap]
rs12541035	0.88[ASN][1000 genomes]
rs12545596	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12548367	0.91[ASN][1000 genomes]
rs12548999	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12549003	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs12550765	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12677346	0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12679044	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs13255935	0.85[CHB][hapmap]
rs13257021	0.85[CHB][hapmap]
rs1453377	0.85[CHB][hapmap]
rs1453379	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs16893776	0.85[CHB][hapmap]
rs2123647	0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2278891	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2924477	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2945554	0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[ASN][1000 genomes]
rs2945563	0.84[ASN][1000 genomes]
rs2956210	0.82[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs2956216	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3019175	0.84[CEU][hapmap];0.93[JPT][hapmap]
rs3019182	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34293080	0.88[ASN][1000 genomes]
rs3802193	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs4570121	0.90[ASN][1000 genomes]
rs4734291	0.87[JPT][hapmap]
rs4735310	0.92[EUR][1000 genomes]
rs4735312	0.94[EUR][1000 genomes]
rs4735328	0.91[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4735329	0.89[ASN][1000 genomes]
rs4735330	0.91[ASN][1000 genomes]
rs4735331	0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4735332	0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4735334	0.86[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap]
rs4735336	0.85[CHB][hapmap]
rs4735337	0.85[CHB][hapmap]
rs4735339	0.85[CHB][hapmap]
rs477653	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs535322	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs550418	0.83[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs550564	0.87[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs551270	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61537129	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6471497	0.95[CEU][hapmap];0.83[YRI][hapmap];0.92[EUR][1000 genomes]
rs6471498	0.94[EUR][1000 genomes]
rs6471499	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs6471500	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471501	0.91[ASN][1000 genomes]
rs6471503	0.85[CHB][hapmap]
rs683832	0.87[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6982393	0.85[CHB][hapmap]
rs6983000	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6987256	0.84[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6987400	0.91[ASN][1000 genomes]
rs7001535	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7002058	0.83[CHB][hapmap]
rs7005317	0.91[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7013163	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7015841	0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7017487	0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs726816	0.92[CHB][hapmap]
rs7820818	0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7827478	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs7839728	0.91[EUR][1000 genomes]
rs7845219	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs896851	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs896854	0.85[CHB][hapmap]
rs9643350	0.86[ASN][1000 genomes]
rs9643351	0.91[ASN][1000 genomes]
rs9643352	0.91[ASN][1000 genomes]
rs9643353	0.82[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv891203	chr8:95883232-95948202	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10956929	SLC26A7	cis	parietal	SCAN
rs10956929	ESRP1	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95837000-95905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95837400-95898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:95838200-95905600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:95870200-95905200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:95870600-95905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:95873600-95891600	Strong transcription	Fetal Intestine Large	intestine
8	chr8:95873800-95892000	Strong transcription	Thymus	Thymus
9	chr8:95873800-95898800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:95874200-95893000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:95874200-95894800	Strong transcription	Duodenum Mucosa	Duodenum
12	chr8:95874200-95895200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr8:95874200-95896600	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr8:95874200-95897600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:95874200-95899000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:95874400-95896200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:95874400-95896400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:95874400-95902600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:95874400-95904600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:95874600-95896200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:95875600-95893200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:95875600-95894400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr8:95875600-95904400	Strong transcription	Fetal Thymus	thymus
24	chr8:95875800-95895000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:95876000-95896200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr8:95876200-95899200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:95876200-95906600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr8:95876800-95899600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:95877000-95894600	Strong transcription	Placenta	Placenta
30	chr8:95877000-95895800	Strong transcription	Adipose Nuclei	Adipose
31	chr8:95877000-95896200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:95877000-95899200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr8:95877200-95892200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:95877200-95896800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr8:95879000-95898000	Weak transcription	Right Ventricle	heart
36	chr8:95879200-95895000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr8:95879200-95906600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:95880200-95894800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:95881200-95898000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:95881200-95905800	Weak transcription	Spleen	Spleen
41	chr8:95882200-95906600	Weak transcription	Gastric	stomach
42	chr8:95882600-95895200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:95882600-95895200	Strong transcription	Primary B cells from cord blood	blood
44	chr8:95882800-95894000	Strong transcription	Primary T cells from cord blood	blood
45	chr8:95882800-95896200	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr8:95883000-95892600	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:95883000-95894200	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:95883000-95894800	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr8:95883000-95895200	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr8:95883400-95905600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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