Variant report

Variant	rs4871570
Chromosome Location	chr8:126118159-126118160
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126116434..126120549-chr8:126124395..126129620,4	K562	blood:
2	chr8:126107482..126112486-chr8:126114879..126119066,5	MCF-7	breast:
3	chr8:126102591..126105691-chr8:126115903..126118524,3	MCF-7	breast:
4	chr8:126117610..126119168-chr8:126119754..126122274,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164961	Chromatin interaction
ENSG00000156831	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs13253942	0.81[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];0.85[JPT][hapmap];0.87[TSI][hapmap];0.95[ASN][1000 genomes]
rs13254947	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13259062	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13262348	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267325	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13273034	0.98[ASN][1000 genomes]
rs13273231	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13273421	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13277078	0.84[EUR][1000 genomes]
rs13277490	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16900167	0.82[CEU][hapmap]
rs16900452	0.95[ASN][1000 genomes]
rs17310558	0.81[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs17401283	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2384882	0.80[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34110249	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34246020	0.92[ASN][1000 genomes]
rs34298715	0.95[ASN][1000 genomes]
rs34427316	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34448805	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34461511	0.95[ASN][1000 genomes]
rs34694976	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34737949	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34903473	0.95[ASN][1000 genomes]
rs35033076	0.95[ASN][1000 genomes]
rs35140299	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35215140	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35401436	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35475899	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35564243	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35774093	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35822368	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35861494	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35991395	0.95[ASN][1000 genomes]
rs36081564	0.95[ASN][1000 genomes]
rs3923300	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4360308	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4477044	0.85[ASN][1000 genomes]
rs4601329	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs56135036	0.95[ASN][1000 genomes]
rs66561774	0.95[ASN][1000 genomes]
rs66826725	0.95[ASN][1000 genomes]
rs71516763	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71516769	0.92[ASN][1000 genomes]
rs72720550	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv465803	chr8:126068197-126132816	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
6	nsv612148	chr8:126068197-126132816	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
8	nsv1022954	chr8:126117811-126180331	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4871570	CCR1	trans	lymphoblastoid	seeQTL
rs4871570	TNFSF11	trans	lymphoblastoid	seeQTL
rs4871570	FAM160A2	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126104600-126120200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:126105000-126123200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:126105000-126123200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:126105000-126131400	Weak transcription	Fetal Kidney	kidney
5	chr8:126105200-126156400	Weak transcription	Fetal Brain Male	brain
6	chr8:126105400-126122200	Weak transcription	NHDF-Ad	bronchial
7	chr8:126105400-126123200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:126105400-126131200	Weak transcription	Fetal Heart	heart
9	chr8:126105600-126122600	Weak transcription	Stomach Mucosa	stomach
10	chr8:126108600-126122200	Weak transcription	NHEK	skin
11	chr8:126113200-126118800	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:126113400-126118600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:126113400-126121600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:126113600-126123600	Strong transcription	Fetal Thymus	thymus
15	chr8:126113800-126118400	Strong transcription	Brain Anterior Caudate	brain
16	chr8:126113800-126118800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr8:126114000-126118600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr8:126114200-126118200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr8:126114200-126118200	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:126114200-126118400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:126114200-126118400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:126114200-126118400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:126114200-126118400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:126114200-126118400	Strong transcription	Adipose Nuclei	Adipose
25	chr8:126114200-126118600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:126114200-126123000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:126114200-126123600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:126114400-126118200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:126114400-126118400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:126114400-126118400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr8:126114400-126118400	Strong transcription	Hela-S3	cervix
32	chr8:126114400-126118600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:126114400-126118600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:126114400-126118600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:126114400-126118600	Strong transcription	Primary B cells from cord blood	blood
36	chr8:126114400-126118600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:126114400-126118600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr8:126114400-126118600	Strong transcription	HepG2	liver
39	chr8:126114400-126118800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr8:126114400-126119200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:126114400-126121200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:126114400-126121200	Strong transcription	Liver	Liver
43	chr8:126114400-126122000	Strong transcription	Dnd41	blood
44	chr8:126114400-126124200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr8:126114600-126118400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:126114600-126118400	Strong transcription	Brain Hippocampus Middle	brain
47	chr8:126114600-126118400	Strong transcription	Lung	lung
48	chr8:126114600-126118400	Strong transcription	HSMMtube	muscle
49	chr8:126114600-126118600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:126114600-126118600	Strong transcription	Fetal Intestine Large	intestine

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