Variant report

Variant	rs7845219
Chromosome Location	chr8:95937502-95937503
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95932664..95935352-chr8:95936830..95938915,3	MCF-7	breast:
2	chr8:95935684..95938167-chr8:96034752..96038449,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10086284	1.00[CHB][hapmap]
rs10097617	0.81[EUR][1000 genomes]
rs10098778	1.00[CHB][hapmap];0.88[GIH][hapmap];0.83[JPT][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs10099059	0.84[EUR][1000 genomes]
rs10099941	1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes]
rs10104909	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs10108430	0.92[EUR][1000 genomes]
rs10112232	0.86[GIH][hapmap]
rs1011795	0.85[CHB][hapmap]
rs1011796	0.85[CHB][hapmap]
rs10441538	0.84[CHB][hapmap];0.86[GIH][hapmap];0.81[MEX][hapmap]
rs10808671	0.84[EUR][1000 genomes]
rs10956928	0.81[JPT][hapmap]
rs10956929	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs10956930	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs10956931	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs10956932	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs10956933	0.84[EUR][1000 genomes]
rs1129152	1.00[ASW][hapmap];0.86[CHB][hapmap];0.82[LWK][hapmap];0.86[MKK][hapmap]
rs11784717	0.85[CHB][hapmap]
rs11996455	0.86[CHB][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap]
rs12386945	0.84[EUR][1000 genomes]
rs12545596	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs12546365	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12548874	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12548999	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs12549003	1.00[CHB][hapmap]
rs12679044	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1320164	0.90[EUR][1000 genomes]
rs13248607	0.84[EUR][1000 genomes]
rs13254283	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13255935	0.89[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.91[EUR][1000 genomes]
rs13257021	0.85[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes]
rs13262110	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13270641	0.81[EUR][1000 genomes]
rs13271375	0.80[ASW][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap]
rs13271644	0.86[GIH][hapmap]
rs13274945	0.84[EUR][1000 genomes]
rs1453377	1.00[CHB][hapmap];0.86[GIH][hapmap];0.83[JPT][hapmap]
rs1453379	1.00[CHB][hapmap]
rs16893776	1.00[CHB][hapmap];0.88[GIH][hapmap];0.83[JPT][hapmap]
rs2011566	0.81[EUR][1000 genomes]
rs2123647	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2340584	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2879813	0.84[EUR][1000 genomes]
rs2945554	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2956210	0.85[CHB][hapmap]
rs2956216	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs3019175	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs3802193	1.00[CHB][hapmap]
rs4734291	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs4734295	0.81[CHB][hapmap]
rs4735328	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs4735331	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs4735332	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs4735333	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4735334	0.85[CHB][hapmap]
rs4735336	1.00[CHB][hapmap];0.88[GIH][hapmap];0.83[JPT][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs4735337	1.00[CHB][hapmap];0.88[GIH][hapmap];0.83[JPT][hapmap]
rs4735339	1.00[CHB][hapmap];0.88[GIH][hapmap];0.88[JPT][hapmap]
rs477653	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs550418	0.92[CHB][hapmap];0.88[JPT][hapmap]
rs550564	0.92[CHB][hapmap];0.88[JPT][hapmap]
rs551270	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs61663478	0.92[EUR][1000 genomes]
rs6471499	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs6471500	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs6471503	1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes]
rs6471504	0.86[CHB][hapmap]
rs683832	0.92[CHB][hapmap];0.88[JPT][hapmap]
rs6982393	1.00[CHB][hapmap];0.88[GIH][hapmap];0.83[JPT][hapmap]
rs6983000	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs6987256	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs6987752	0.91[EUR][1000 genomes]
rs6991067	0.80[ASW][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap]
rs7001535	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs7003387	0.91[EUR][1000 genomes]
rs7004862	0.86[CHB][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap]
rs7005317	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs7015841	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs7017487	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs713113	0.86[GIH][hapmap];0.81[MEX][hapmap]
rs726816	0.92[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs7820818	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs7827478	1.00[CHB][hapmap]
rs896851	0.92[CHB][hapmap]
rs896852	0.91[EUR][1000 genomes]
rs896853	0.85[EUR][1000 genomes]
rs896854	0.85[CEU][hapmap];0.85[CHB][hapmap];0.80[CHD][hapmap];0.91[GIH][hapmap];0.98[TSI][hapmap]
rs896855	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9643353	0.85[CHB][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

Variant related diseases (count:1)

Disease	PMID	Source
Type 2 diabetes	24509480	GWAS catalog

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7845219	KRTAP5-7	trans	cerebellum	SCAN
rs7845219	LAPTM4B	cis	parietal	SCAN
rs7845219	RBM12B	cis	cerebellum	SCAN
rs7845219	RAD54B	cis	cerebellum	SCAN
rs7845219	TP53INP1	Cis_1M	lymphoblastoid	RTeQTL
rs7845219	TP53INP1	cis	cerebellum	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95909400-95939000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr8:95909400-95941000	Weak transcription	Ovary	ovary
3	chr8:95909400-95941200	Weak transcription	Fetal Stomach	stomach
4	chr8:95909600-95938400	Weak transcription	Primary T cells from cord blood	blood
5	chr8:95909600-95941800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:95909800-95940600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:95910000-95940200	Weak transcription	Thymus	Thymus
8	chr8:95910800-95940200	Weak transcription	Hela-S3	cervix
9	chr8:95918000-95940200	Weak transcription	Brain Anterior Caudate	brain
10	chr8:95918600-95947400	Weak transcription	Small Intestine	intestine
11	chr8:95919000-95941200	Weak transcription	Left Ventricle	heart
12	chr8:95919200-95948600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:95920200-95938400	Weak transcription	NHDF-Ad	bronchial
14	chr8:95920400-95938000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:95926200-95939600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:95926200-95946400	Weak transcription	Stomach Mucosa	stomach
17	chr8:95926400-95941200	Weak transcription	Pancreas	Pancrea
18	chr8:95927000-95940400	Weak transcription	Lung	lung
19	chr8:95928600-95938600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr8:95928600-95939000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:95928600-95939600	Weak transcription	Fetal Intestine Large	intestine
22	chr8:95928600-95939600	Weak transcription	Dnd41	blood
23	chr8:95928600-95940200	Weak transcription	Fetal Kidney	kidney
24	chr8:95928600-95940200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:95928600-95941200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:95928600-95941200	Weak transcription	Fetal Intestine Small	intestine
27	chr8:95928800-95939800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr8:95929800-95940600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:95930200-95941800	Weak transcription	Spleen	Spleen
30	chr8:95930600-95938400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:95930600-95939800	Weak transcription	Fetal Lung	lung
32	chr8:95930600-95940800	Weak transcription	Aorta	Aorta
33	chr8:95930600-95948600	Weak transcription	Gastric	stomach
34	chr8:95931800-95950000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:95932000-95940400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:95932400-95940600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:95932800-95940200	Weak transcription	HSMMtube	muscle
38	chr8:95933000-95939600	Weak transcription	HSMM	muscle
39	chr8:95933000-95941200	Weak transcription	Esophagus	oesophagus
40	chr8:95933400-95938600	Weak transcription	Osteobl	bone
41	chr8:95933400-95960600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:95933600-95939200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr8:95933600-95940000	Weak transcription	Brain Substantia Nigra	brain
44	chr8:95933600-95940200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr8:95933600-95940800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:95933600-95941200	Weak transcription	K562	blood
47	chr8:95933600-95942000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:95933600-95949600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:95933800-95941400	Weak transcription	Fetal Heart	heart
50	chr8:95934000-95938200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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