Variant report

Variant	rs2735870
Chromosome Location	chr8:90742684-90742685
allele	A/C
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90741497..90743886-chr8:90913667..90916372,2	MCF-7	breast:
2	chr8:90742547..90745404-chr8:90995245..90998010,2	MCF-7	breast:
3	chr8:90740621..90743258-chr8:90763138..90765800,2	K562	blood:
4	chr8:90741234..90743922-chr8:90995229..90998004,3	MCF-7	breast:
5	chr8:90739799..90743850-chr8:90767861..90774313,11	K562	blood:
6	chr8:90736815..90743993-chr8:90765696..90773918,18	MCF-7	breast:
7	chr8:90732925..90737686-chr8:90738407..90742912,6	K562	blood:
8	chr8:90742416..90744281-chr8:90745142..90746926,3	MCF-7	breast:
9	chr8:90739799..90744088-chr8:90767861..90774313,10	K562	blood:
10	chr8:90740510..90743977-chr8:90993488..90997809,6	K562	blood:
11	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
12	chr8:90734630..90736246-chr8:90739978..90742912,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251136	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1003843	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095743	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10112852	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12675281	0.80[EUR][1000 genomes]
rs13252013	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13252917	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13259882	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13279023	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs184302	0.85[EUR][1000 genomes]
rs218895	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs218899	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs218900	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218901	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218902	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218905	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218907	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218908	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218909	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218910	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218913	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218916	0.80[EUR][1000 genomes]
rs218925	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218929	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218932	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218934	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218936	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218944	0.86[EUR][1000 genomes]
rs218946	0.87[EUR][1000 genomes]
rs218947	0.87[EUR][1000 genomes]
rs218948	0.85[EUR][1000 genomes]
rs2644021	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2644033	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735871	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2735873	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735878	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735882	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs370282	0.84[AMR][1000 genomes]
rs383592	0.83[EUR][1000 genomes]
rs385524	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs39499	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39500	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39503	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39504	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39505	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39506	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39509	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs39761	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs400411	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs40246	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs40247	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs402886	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40382	0.83[AMR][1000 genomes]
rs40452	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40453	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs40544	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40545	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40547	0.81[AMR][1000 genomes]
rs405734	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40636	0.85[AMR][1000 genomes]
rs40638	0.84[AMR][1000 genomes]
rs411279	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs416324	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs419754	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs42346	0.85[AMR][1000 genomes]
rs42490	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs431264	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs43134	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs43135	0.82[AMR][1000 genomes]
rs43225	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs447618	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs454441	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs465	0.83[AMR][1000 genomes]
rs4961158	0.80[EUR][1000 genomes]
rs51331	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6470366	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67143546	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6992985	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6993133	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7824932	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv6294	chr8:90705780-90750101	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	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
7	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
rs2735870	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs2735870	RP11-37B2.1	cis	Thyroid	GTEx
rs2735870	RP11-37B2.1	cis	Nerve Tibial	GTEx
rs2735870	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx
rs2735870	RP11-37B2.1	cis	Artery Tibial	GTEx

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
2	chr8:90717800-90747800	Weak transcription	Ovary	ovary
3	chr8:90738600-90749000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:90738600-90749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:90739000-90749400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:90739200-90744800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:90739200-90748800	Weak transcription	A549	lung
8	chr8:90739400-90745400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:90739600-90743000	Weak transcription	HSMM	muscle
10	chr8:90740400-90742800	Enhancers	Fetal Intestine Large	intestine
11	chr8:90740800-90742800	Enhancers	Stomach Mucosa	stomach
12	chr8:90741000-90745200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:90741400-90742800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr8:90741400-90742800	Active TSS	Adipose Nuclei	Adipose
15	chr8:90741400-90742800	Active TSS	Duodenum Mucosa	Duodenum
16	chr8:90741400-90743000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:90741400-90751400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:90741600-90742800	Active TSS	Right Atrium	heart
19	chr8:90741600-90742800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr8:90741600-90749000	Weak transcription	Gastric	stomach
21	chr8:90741600-90768200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:90742000-90742800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:90742000-90742800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:90742000-90742800	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr8:90742000-90742800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:90742000-90742800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:90742000-90742800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr8:90742000-90742800	Active TSS	HMEC	breast
29	chr8:90742000-90742800	Flanking Active TSS	HUVEC	blood vessel
30	chr8:90742000-90742800	Active TSS	NHLF	lung
31	chr8:90742000-90747000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:90742200-90742800	Enhancers	Hela-S3	cervix
33	chr8:90742400-90742800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:90742400-90742800	Active TSS	Aorta	Aorta
35	chr8:90742400-90742800	Flanking Active TSS	Liver	Liver
36	chr8:90742400-90742800	Flanking Active TSS	GM12878-XiMat	blood
37	chr8:90742400-90742800	Flanking Active TSS	K562	blood
38	chr8:90742400-90743000	Weak transcription	Fetal Stomach	stomach
39	chr8:90742600-90742800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:90742600-90742800	Enhancers	Fetal Intestine Small	intestine
41	chr8:90742600-90742800	Flanking Active TSS	NHDF-Ad	bronchial
42	chr8:90742600-90743000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr8:90742600-90743000	Enhancers	Primary B cells from peripheral blood	blood
44	chr8:90742600-90743000	Enhancers	Primary T cells fromperipheralblood	blood
45	chr8:90742600-90743000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:90742600-90743000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:90742600-90743200	Enhancers	Primary B cells from cord blood	blood
48	chr8:90742600-90743600	Weak transcription	Fetal Lung	lung
49	chr8:90742600-90746400	Weak transcription	Psoas Muscle	Psoas
50	chr8:90742600-90747600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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