Variant report

Variant	rs4871527
Chromosome Location	chr8:125650653-125650654
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: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	chr8:125649125..125655229-chr8:125655458..125659458,6	K562	blood:
2	chr8:125640310..125641819-chr8:125649857..125651732,2	MCF-7	breast:
3	chr8:125648425..125652159-chr8:125652603..125655556,5	K562	blood:
4	chr8:125649883..125652177-chr8:125661816..125663375,2	K562	blood:
5	chr8:125648801..125651687-chr8:125651691..125654653,2	MCF-7	breast:
6	chr8:125650533..125653150-chr8:125663806..125665478,2	MCF-7	breast:
7	chr8:125647705..125651624-chr8:125656720..125658741,4	K562	blood:
8	chr8:125603731..125605480-chr8:125649123..125652014,2	K562	blood:
9	chr8:125647545..125651264-chr8:125826076..125829178,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11775349	0.82[ASN][1000 genomes]
rs11780949	0.93[JPT][hapmap]
rs11783312	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11785482	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4007936	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.92[TSI][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4510845	0.93[JPT][hapmap]
rs4870915	0.86[JPT][hapmap]
rs4871524	0.93[JPT][hapmap]
rs57174114	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59676492	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62530691	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62530692	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6992199	0.93[JPT][hapmap]
rs6997870	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7017138	0.93[JPT][hapmap]
rs73343952	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7827042	0.93[JPT][hapmap]
rs7840832	0.93[JPT][hapmap]
rs7843950	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	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
3	esv275526	chr8:125640964-125650653	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4871527	MTSS1	cis	lymphoblastoid	seeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125637200-125651000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr8:125641200-125664200	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:125642800-125653600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:125643000-125652200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr8:125643000-125653800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:125643400-125656200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:125643800-125656000	Weak transcription	HMEC	breast
8	chr8:125643800-125666200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:125644200-125653800	Weak transcription	Hela-S3	cervix
10	chr8:125644400-125654600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:125645600-125661800	Enhancers	Fetal Thymus	thymus
12	chr8:125645800-125657600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:125646000-125656400	Enhancers	Primary B cells from cord blood	blood
14	chr8:125646400-125657600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:125646400-125657800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr8:125646600-125651200	Enhancers	Primary T cells from cord blood	blood
17	chr8:125646600-125651200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr8:125646600-125651200	Enhancers	Liver	Liver
19	chr8:125646600-125651200	Enhancers	Dnd41	blood
20	chr8:125646600-125656800	Enhancers	Primary hematopoietic stem cells	blood
21	chr8:125646600-125658000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:125646600-125658600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr8:125646600-125659000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:125646800-125658000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr8:125647000-125651000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr8:125647000-125651000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr8:125647000-125651200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr8:125647000-125651200	Enhancers	Fetal Heart	heart
29	chr8:125647000-125651200	Enhancers	Spleen	Spleen
30	chr8:125647000-125651200	Enhancers	HepG2	liver
31	chr8:125647000-125651600	Enhancers	Fetal Muscle Leg	muscle
32	chr8:125647000-125654400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:125647000-125655400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:125647000-125657200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:125647400-125650800	Enhancers	Brain Substantia Nigra	brain
36	chr8:125647400-125650800	Enhancers	Duodenum Mucosa	Duodenum
37	chr8:125647600-125651600	Enhancers	Left Ventricle	heart
38	chr8:125647800-125651400	Enhancers	Psoas Muscle	Psoas
39	chr8:125647800-125651600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr8:125648200-125651000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:125648200-125651200	Enhancers	Adipose Nuclei	Adipose
42	chr8:125648400-125650800	Weak transcription	Placenta	Placenta
43	chr8:125648800-125650800	Enhancers	HSMM	muscle
44	chr8:125648800-125651200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr8:125649000-125650800	Enhancers	Brain Hippocampus Middle	brain
46	chr8:125649000-125650800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:125649000-125651000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr8:125649000-125651000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr8:125649000-125651200	Enhancers	Brain Germinal Matrix	brain
50	chr8:125649200-125651000	Flanking Active TSS	Thymus	Thymus

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