Variant report

Variant	rs17310558
Chromosome Location	chr8:126239155-126239156
allele	C/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126237669..126239441-chr8:126440944..126443387,2	K562	blood:
2	chr8:126229542..126240931-chr8:126439455..126445268,19	MCF-7	breast:
3	chr8:126222391..126224423-chr8:126237932..126240192,2	MCF-7	breast:
4	chr8:126236996..126239441-chr8:126440944..126443056,2	K562	blood:
5	chr8:126238474..126242182-chr8:126243434..126246858,3	K562	blood:
6	chr8:126102769..126104821-chr8:126238208..126240450,2	MCF-7	breast:
7	chr8:126233946..126236339-chr8:126236823..126239784,3	K562	blood:
8	chr8:126230421..126233319-chr8:126238553..126242125,3	MCF-7	breast:
9	chr8:126238065..126239621-chr8:126240641..126243197,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000156831	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12675943	0.84[EUR][1000 genomes]
rs12681602	0.81[CEU][hapmap]
rs13249982	0.90[CEU][hapmap]
rs13253942	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254947	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13262348	0.95[ASN][1000 genomes]
rs13264500	0.94[EUR][1000 genomes]
rs13267325	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273034	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273231	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273421	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2384882	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34110249	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34246020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34298715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34427316	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448805	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34461511	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34694976	0.95[ASN][1000 genomes]
rs34737949	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34903473	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35033076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35140299	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35215140	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35336507	0.86[EUR][1000 genomes]
rs35401436	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35475899	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35564243	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35774093	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35822368	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35861494	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35955519	0.86[EUR][1000 genomes]
rs35991395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36081564	1.00[ASN][1000 genomes]
rs3923300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4360308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4477044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4601329	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4871570	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]
rs56135036	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66561774	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66826725	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66929016	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71516763	0.92[ASN][1000 genomes]
rs71516769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72720550	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720569	0.88[EUR][1000 genomes]
rs7461756	0.90[CEU][hapmap]
rs868227	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	nsv1034798	chr8:126179383-126241525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17310558	CCR1	trans	lymphoblastoid	seeQTL

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126204400-126239600	Weak transcription	Primary T cells from cord blood	blood
2	chr8:126226800-126260200	Weak transcription	Right Ventricle	heart
3	chr8:126229800-126239800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:126230000-126240000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:126233800-126245200	Weak transcription	Pancreas	Pancrea
6	chr8:126233800-126249600	Weak transcription	Gastric	stomach
7	chr8:126233800-126264800	Weak transcription	Left Ventricle	heart
8	chr8:126234000-126242400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:126234200-126242800	Weak transcription	Hela-S3	cervix
10	chr8:126235400-126239400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:126235400-126240000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr8:126235600-126239600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:126235600-126239800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:126235600-126240000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:126235600-126241800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:126235600-126243800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:126236200-126239800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:126236400-126239800	Enhancers	Brain Anterior Caudate	brain
19	chr8:126236800-126239600	Enhancers	Primary B cells from cord blood	blood
20	chr8:126237000-126239400	Enhancers	Duodenum Mucosa	Duodenum
21	chr8:126237000-126239600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:126237000-126239600	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:126237000-126239600	Enhancers	Stomach Mucosa	stomach
24	chr8:126237000-126239600	Enhancers	HMEC	breast
25	chr8:126237000-126239800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr8:126237200-126239400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:126237200-126239600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:126237200-126239800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr8:126237200-126239800	Enhancers	Brain Substantia Nigra	brain
30	chr8:126237400-126239200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:126237400-126239200	Enhancers	Fetal Kidney	kidney
32	chr8:126237400-126239400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:126237400-126239600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr8:126237400-126239600	Enhancers	Brain Angular Gyrus	brain
35	chr8:126237400-126239600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr8:126237400-126239800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:126237400-126239800	Enhancers	Brain Cingulate Gyrus	brain
38	chr8:126237800-126239200	Weak transcription	Thymus	Thymus
39	chr8:126237800-126239200	Enhancers	HepG2	liver
40	chr8:126237800-126239400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr8:126237800-126239600	Enhancers	Fetal Intestine Small	intestine
42	chr8:126237800-126240000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr8:126237800-126240000	Enhancers	A549	lung
44	chr8:126237800-126240800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr8:126237800-126240800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr8:126237800-126242600	Weak transcription	Small Intestine	intestine
47	chr8:126237800-126243400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:126237800-126246000	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:126238000-126239600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:126238000-126240000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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