Variant report

Variant	rs7571529
Chromosome Location	chr2:86217414-86217415
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86210697..86213277-chr2:86217060..86219061,2	K562	blood:
2	chr2:86203428..86205643-chr2:86215451..86219080,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10173155	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10208184	0.84[ASN][1000 genomes]
rs1036553	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2083168	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2099616	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2099617	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2886885	0.85[ASN][1000 genomes]
rs311564	0.83[ASN][1000 genomes]
rs311576	0.83[ASN][1000 genomes]
rs311578	0.83[ASN][1000 genomes]
rs311579	0.83[ASN][1000 genomes]
rs311585	0.83[ASN][1000 genomes]
rs311588	0.83[ASN][1000 genomes]
rs3937593	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4832233	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6547653	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6547654	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6547655	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs717144	0.87[ASN][1000 genomes]
rs7586985	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7595420	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7599326	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7606897	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7607138	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs879649	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs893442	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs934829	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs934831	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7571529	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs7571529	IMMT	Cis_1M	lymphoblastoid	RTeQTL
rs7571529	IMMT	cis	Whole Blood	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86204000-86221000	Weak transcription	Right Atrium	heart
2	chr2:86207000-86223400	Weak transcription	Liver	Liver
3	chr2:86207600-86219800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:86214400-86217800	Enhancers	Fetal Muscle Leg	muscle
5	chr2:86214600-86218400	Enhancers	K562	blood
6	chr2:86214600-86221200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:86215600-86217800	Enhancers	Psoas Muscle	Psoas
8	chr2:86215600-86221000	Weak transcription	HSMM	muscle
9	chr2:86215800-86219800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:86215800-86221000	Weak transcription	Right Ventricle	heart
11	chr2:86215800-86221000	Weak transcription	Spleen	Spleen
12	chr2:86216000-86218200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:86216000-86221000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:86216000-86221000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:86216000-86221000	Weak transcription	Thymus	Thymus
16	chr2:86216000-86221200	Weak transcription	NHDF-Ad	bronchial
17	chr2:86216000-86222600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:86216000-86223400	Weak transcription	Fetal Lung	lung
19	chr2:86216200-86217600	Enhancers	A549	lung
20	chr2:86216200-86219800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:86216200-86220800	Weak transcription	Fetal Thymus	thymus
22	chr2:86216200-86221000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:86216200-86221000	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:86216200-86221000	Weak transcription	Ovary	ovary
25	chr2:86216200-86221000	Weak transcription	Stomach Mucosa	stomach
26	chr2:86216200-86221200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:86216200-86222800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:86216200-86225800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:86216400-86219800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:86216400-86219800	Weak transcription	Adipose Nuclei	Adipose
31	chr2:86216400-86220800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:86216400-86221000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:86216400-86221000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:86216400-86223200	Weak transcription	Pancreas	Pancrea
35	chr2:86216400-86223400	Weak transcription	Fetal Stomach	stomach
36	chr2:86216600-86221200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:86216800-86219800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:86217200-86217600	Enhancers	Hela-S3	cervix
39	chr2:86217200-86220800	Weak transcription	Placenta	Placenta
40	chr2:86217400-86217600	Enhancers	Gastric	stomach
41	chr2:86217400-86218000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:86217400-86218200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:86217400-86220400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr2:86217400-86221000	Weak transcription	Fetal Heart	heart

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