Variant report

Variant	rs4871517
Chromosome Location	chr8:125631144-125631145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125628662..125631478-chr8:125658483..125661336,2	MCF-7	breast:
2	chr8:125574370..125578079-chr8:125630160..125632086,3	MCF-7	breast:
3	chr8:125551283..125554130-chr8:125630970..125633379,3	K562	blood:
4	chr8:125628680..125631257-chr8:125639768..125642424,2	K562	blood:
5	chr8:125625138..125627927-chr8:125628466..125631300,2	K562	blood:
6	chr8:125629075..125631557-chr8:125633717..125635693,2	K562	blood:

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10505448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994520	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.89[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995300	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28379655	0.87[EUR][1000 genomes]
rs3110545	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4870910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870912	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871516	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62530669	0.82[EUR][1000 genomes]
rs62530670	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984853	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs6989466	0.85[CEU][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs919544	0.91[TSI][hapmap]
rs9297695	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs9297696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9771920	0.84[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs9987267	0.93[EUR][1000 genomes]
rs9987275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4871517	MYCBP2	trans	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125617600-125631400	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr8:125618000-125632800	Weak transcription	HUVEC	blood vessel
3	chr8:125618000-125640400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:125619200-125649000	Weak transcription	Colonic Mucosa	Colon
5	chr8:125621800-125631400	Weak transcription	Esophagus	oesophagus
6	chr8:125623200-125631600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:125624200-125633800	Enhancers	Brain Hippocampus Middle	brain
8	chr8:125624800-125631200	Enhancers	Brain Germinal Matrix	brain
9	chr8:125624800-125633000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:125625200-125634400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:125625400-125632200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:125626400-125631400	Enhancers	Adipose Nuclei	Adipose
13	chr8:125626400-125631400	Weak transcription	NHEK	skin
14	chr8:125626400-125638800	Weak transcription	HMEC	breast
15	chr8:125626600-125635600	Enhancers	Fetal Heart	heart
16	chr8:125627000-125633400	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr8:125627000-125633600	Enhancers	Brain Cingulate Gyrus	brain
18	chr8:125627200-125631400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:125627200-125631600	Enhancers	HepG2	liver
20	chr8:125627200-125632800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr8:125627200-125633000	Enhancers	Brain Angular Gyrus	brain
22	chr8:125627200-125633400	Enhancers	Brain Substantia Nigra	brain
23	chr8:125627200-125633600	Enhancers	Brain Anterior Caudate	brain
24	chr8:125627200-125633800	Enhancers	Placenta	Placenta
25	chr8:125627200-125634200	Enhancers	Fetal Muscle Leg	muscle
26	chr8:125627200-125635400	Enhancers	Fetal Thymus	thymus
27	chr8:125627200-125635400	Enhancers	Left Ventricle	heart
28	chr8:125627200-125635400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr8:125627600-125631400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:125627800-125632800	Weak transcription	K562	blood
31	chr8:125627800-125633600	Weak transcription	GM12878-XiMat	blood
32	chr8:125628000-125631600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:125628200-125634600	Enhancers	Right Ventricle	heart
34	chr8:125628600-125631400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:125628600-125631400	Weak transcription	Spleen	Spleen
36	chr8:125628600-125631600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:125628600-125633600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:125628800-125631400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:125628800-125632800	Weak transcription	Fetal Kidney	kidney
40	chr8:125629000-125633400	Enhancers	NHDF-Ad	bronchial
41	chr8:125629000-125633600	Enhancers	HSMMtube	muscle
42	chr8:125629200-125632400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:125629200-125633800	Enhancers	Right Atrium	heart
44	chr8:125629400-125634200	Enhancers	Fetal Muscle Trunk	muscle
45	chr8:125629400-125634200	Enhancers	Psoas Muscle	Psoas
46	chr8:125629400-125640200	Enhancers	Fetal Brain Male	brain
47	chr8:125629600-125631400	Enhancers	Liver	Liver
48	chr8:125629600-125631400	Weak transcription	Fetal Intestine Small	intestine
49	chr8:125629600-125632600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:125629600-125633200	Weak transcription	Fetal Intestine Large	intestine

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