Variant report

Variant	rs4597526
Chromosome Location	chr2:86277308-86277309
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86098928..86100914-chr2:86276090..86278051,2	MCF-7	breast:
2	chr2:86271666..86274392-chr2:86276622..86278866,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10178120	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10178540	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10184246	0.81[EUR][1000 genomes]
rs10185452	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10187150	0.84[EUR][1000 genomes]
rs11395	0.81[EUR][1000 genomes]
rs12714162	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12714166	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12994838	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12997506	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13004643	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13013916	0.80[EUR][1000 genomes]
rs13019073	0.80[EUR][1000 genomes]
rs13024123	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028023	0.84[EUR][1000 genomes]
rs1424522	0.85[EUR][1000 genomes]
rs2241438	0.80[EUR][1000 genomes]
rs2278536	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2289239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34263823	0.82[EUR][1000 genomes]
rs34478066	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34723687	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3770075	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832019	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4832234	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4832236	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735014	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740044	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs715334	0.83[EUR][1000 genomes]
rs7572386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8244	0.82[EUR][1000 genomes]
rs876242	0.81[EUR][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	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv870120	chr2:86265437-86343058	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4597526	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs4597526	IMMT	cis	Artery Aorta	GTEx
rs4597526	IMMT	cis	Esophagus Muscularis	GTEx
rs4597526	IMMT	cis	Whole Blood	GTEx
rs4597526	IMMT	Cis_1M	lymphoblastoid	RTeQTL
rs4597526	LOC90784	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86251200-86281400	Strong transcription	H9 Cell Line	embryonic stem cell
2	chr2:86251200-86283000	Strong transcription	HepG2	liver
3	chr2:86251200-86283200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:86251200-86285000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:86251200-86285200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:86252000-86331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:86252200-86282600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:86252200-86285200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:86252400-86283200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr2:86264000-86281800	Strong transcription	Fetal Brain Female	brain
11	chr2:86264000-86332000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:86264400-86279400	Strong transcription	Hela-S3	cervix
13	chr2:86264400-86285400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:86264400-86285400	Strong transcription	A549	lung
15	chr2:86265200-86281600	Strong transcription	HMEC	breast
16	chr2:86265200-86284000	Strong transcription	NHEK	skin
17	chr2:86265200-86330000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:86265400-86282600	Strong transcription	Esophagus	oesophagus
19	chr2:86265400-86285200	Strong transcription	Fetal Intestine Large	intestine
20	chr2:86265400-86289800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:86265400-86289800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:86265600-86282000	Strong transcription	K562	blood
23	chr2:86265600-86282400	Strong transcription	Brain Germinal Matrix	brain
24	chr2:86265600-86289800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:86265800-86278600	Weak transcription	Small Intestine	intestine
26	chr2:86265800-86280400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:86265800-86284000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:86265800-86305400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:86266000-86278000	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr2:86266000-86281800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:86266000-86282600	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:86266000-86282800	Strong transcription	Gastric	stomach
33	chr2:86266000-86282800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr2:86266000-86283800	Strong transcription	Fetal Intestine Small	intestine
35	chr2:86266000-86287800	Weak transcription	Right Atrium	heart
36	chr2:86266200-86280600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:86266200-86281000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:86266200-86281400	Strong transcription	NHLF	lung
39	chr2:86266200-86281600	Strong transcription	Osteobl	bone
40	chr2:86266200-86282200	Strong transcription	GM12878-XiMat	blood
41	chr2:86266200-86282800	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:86266200-86282800	Strong transcription	Fetal Stomach	stomach
43	chr2:86266200-86284600	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:86266400-86278600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:86266400-86281400	Strong transcription	Liver	Liver
46	chr2:86266400-86281600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr2:86266400-86288800	Strong transcription	Duodenum Mucosa	Duodenum
48	chr2:86266400-86295800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:86266600-86285000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:86266800-86289800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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