Variant report

Variant	rs43225
Chromosome Location	chr8:90773004-90773005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr8:90772871-90773186	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90770120..90773332-chr8:90778069..90782721,6	K562	blood:
2	chr8:90766360..90773428-chr8:90991217..91000142,22	MCF-7	breast:
3	chr6:27099899..27102052-chr8:90770515..90773024,2	MCF-7	breast:
4	chr8:90731255..90734229-chr8:90770926..90773381,2	MCF-7	breast:
5	chr8:90735927..90738609-chr8:90772144..90774444,2	K562	blood:
6	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
7	chr8:90767236..90773457-chr8:90912212..90919638,16	MCF-7	breast:
8	chr8:90736815..90743993-chr8:90765696..90773918,18	MCF-7	breast:
9	chr8:90772791..90774637-chr8:90794290..90797972,3	MCF-7	breast:
10	chr8:90772003..90774182-chr8:90878976..90880598,2	K562	blood:
11	chr8:90766719..90773256-chr8:90991979..90999179,19	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251136	TF binding region
ENSG00000251136	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000124635	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1003843	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10095743	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10112852	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13252013	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13252917	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13259882	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13279023	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1397308	0.81[CEU][hapmap]
rs218895	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs218899	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs218900	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs218901	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs218902	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs218903	0.96[CEU][hapmap]
rs218905	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs218907	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218908	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218909	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs218910	0.82[EUR][1000 genomes]
rs218913	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs218914	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218925	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218929	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218932	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218934	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218936	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218944	0.80[EUR][1000 genomes]
rs218946	0.81[EUR][1000 genomes]
rs218947	0.81[EUR][1000 genomes]
rs2644021	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2644033	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2735870	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2735871	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2735873	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2735878	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2735882	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs367640	1.00[YRI][hapmap]
rs370282	1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs383592	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs385524	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs388866	1.00[YRI][hapmap]
rs394108	0.82[AMR][1000 genomes]
rs39499	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs39500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39503	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39504	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39505	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39509	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs39761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39767	0.82[AMR][1000 genomes]
rs400411	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs40246	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs40247	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs40250	1.00[YRI][hapmap]
rs402886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40382	0.87[AMR][1000 genomes]
rs40452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40453	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs40459	0.81[CEU][hapmap]
rs40544	0.96[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs40545	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40547	0.85[AMR][1000 genomes]
rs405734	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40636	0.89[AMR][1000 genomes]
rs40638	1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs410663	0.81[CEU][hapmap]
rs411279	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs416324	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs419754	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs42346	1.00[YRI][hapmap];0.89[AMR][1000 genomes]
rs42481	0.81[CEU][hapmap]
rs42490	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs427854	1.00[YRI][hapmap]
rs431264	0.91[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs43134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs43135	0.86[AMR][1000 genomes]
rs447618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs454441	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs465	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs51331	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs610880	1.00[YRI][hapmap]
rs6470366	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67143546	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6992985	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6993133	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]

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	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs43225	RP11-37B2.1	cis	Artery Tibial	GTEx
rs43225	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx
rs43225	RP11-37B2.1	cis	Thyroid	GTEx
rs43225	RP11-37B2.1	cis	Nerve Tibial	GTEx
rs43225	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90770800-90773800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:90771000-90773600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr8:90771000-90774200	Weak transcription	Gastric	stomach
4	chr8:90771000-90797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:90771600-90774200	Enhancers	Fetal Heart	heart
6	chr8:90771600-90803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:90771800-90773200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:90771800-90773800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:90771800-90774200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:90771800-90774200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr8:90771800-90777400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:90771800-90784400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr8:90771800-90805000	Weak transcription	Esophagus	oesophagus
14	chr8:90772000-90773200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr8:90772000-90773200	Enhancers	HUVEC	blood vessel
16	chr8:90772000-90773400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:90772000-90773800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:90772000-90776200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:90772000-90777400	Weak transcription	Primary T cells from cord blood	blood
20	chr8:90772000-90778000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:90772000-90778400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:90772000-90784600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:90772000-90785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:90772000-90785400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:90772000-90796800	Weak transcription	Lung	lung
26	chr8:90772000-90797000	Weak transcription	Ovary	ovary
27	chr8:90772200-90773200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr8:90772200-90773200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:90772200-90773200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:90772200-90773200	Enhancers	Brain Angular Gyrus	brain
31	chr8:90772200-90773600	Weak transcription	Stomach Mucosa	stomach
32	chr8:90772200-90773800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:90772200-90773800	Enhancers	Brain Substantia Nigra	brain
34	chr8:90772200-90774000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr8:90772200-90774200	Enhancers	HepG2	liver
36	chr8:90772200-90774400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:90772200-90775800	Weak transcription	HSMM	muscle
38	chr8:90772200-90777600	Weak transcription	Placenta	Placenta
39	chr8:90772200-90778000	Weak transcription	Fetal Kidney	kidney
40	chr8:90772200-90778200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:90772200-90778200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:90772200-90778200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr8:90772200-90783600	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:90772200-90783800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:90772200-90784600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr8:90772200-90785200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:90772200-90785600	Weak transcription	Fetal Muscle Leg	muscle
48	chr8:90772200-90802000	Weak transcription	Colonic Mucosa	Colon
49	chr8:90772200-90802400	Weak transcription	Spleen	Spleen
50	chr8:90772200-90805200	Weak transcription	Fetal Brain Male	brain

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