Variant report

Variant	rs12679044
Chromosome Location	chr8:95891356-95891357
allele	A/C
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
ENSG00000164941	Chromatin interaction
ENSG00000272509	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10086284	0.85[CHB][hapmap]
rs10098778	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs10099941	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs10100651	0.81[AMR][1000 genomes]
rs10112232	0.88[CEU][hapmap]
rs1011796	0.85[CHB][hapmap]
rs10441538	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10956928	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs10956929	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs10956930	0.88[JPT][hapmap]
rs10956931	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs10956932	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs11784717	0.85[CHB][hapmap]
rs11996455	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs12155666	0.82[EUR][1000 genomes]
rs12545596	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs12546365	0.93[ASN][1000 genomes]
rs12548999	0.88[JPT][hapmap]
rs12549003	0.85[CHB][hapmap]
rs13254283	0.93[ASN][1000 genomes]
rs13255935	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs13257021	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs13262110	0.88[ASN][1000 genomes]
rs13271375	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs13271644	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1453377	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs1453379	0.85[CHB][hapmap]
rs16893776	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs2123647	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2278891	0.92[CHB][hapmap]
rs2340584	0.91[ASN][1000 genomes]
rs2945554	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2956210	0.85[CHB][hapmap]
rs2956216	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs3019175	0.83[JPT][hapmap]
rs3802193	0.85[CHB][hapmap]
rs4075835	0.82[CEU][hapmap];0.81[CHB][hapmap];0.92[EUR][1000 genomes]
rs4500055	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs4734291	1.00[JPT][hapmap]
rs4735328	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs4735331	0.88[JPT][hapmap]
rs4735332	0.88[JPT][hapmap]
rs4735334	0.85[CHB][hapmap]
rs4735336	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs4735337	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs4735339	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs477653	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs550418	0.88[JPT][hapmap]
rs550564	0.92[CHB][hapmap];0.88[JPT][hapmap]
rs551270	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs6471499	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs6471500	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs6471503	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs683832	0.92[CHB][hapmap];0.88[JPT][hapmap]
rs6982393	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs6983000	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs6987256	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs6991067	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs7001535	0.88[JPT][hapmap]
rs7002058	1.00[CEU][hapmap];0.85[CHB][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7004862	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs7005317	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs7015841	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs7017487	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs713113	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs726816	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs7817862	0.83[EUR][1000 genomes]
rs7820818	0.88[JPT][hapmap]
rs7827478	0.85[CHB][hapmap]
rs7845219	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs896854	0.85[CHB][hapmap]
rs9643353	0.85[CHB][hapmap]
rs9650133	0.84[EUR][1000 genomes]

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
rs12679044	INTS8	Cis_1M	lymphoblastoid	RTeQTL
rs12679044	TP53INP1	Cis_1M	lymphoblastoid	RTeQTL

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	chr8:95877400-95891400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr8:95879000-95898000	Weak transcription	Right Ventricle	heart
37	chr8:95879200-95895000	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr8:95879200-95906600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:95880200-95894800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:95881200-95898000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:95881200-95905800	Weak transcription	Spleen	Spleen
42	chr8:95882200-95906600	Weak transcription	Gastric	stomach
43	chr8:95882600-95895200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:95882600-95895200	Strong transcription	Primary B cells from cord blood	blood
45	chr8:95882800-95894000	Strong transcription	Primary T cells from cord blood	blood
46	chr8:95882800-95896200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr8:95883000-95892600	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:95883000-95894200	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr8:95883000-95894800	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr8:95883000-95895200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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