Variant report

Variant	rs7572386
Chromosome Location	chr2:86272191-86272192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86076023..86078955-chr2:86270919..86273082,2	MCF-7	breast:
2	chr2:86271666..86274392-chr2:86276622..86278866,2	MCF-7	breast:
3	chr2:86271262..86274058-chr2:86286293..86288618,2	K562	blood:
4	chr2:86270899..86273641-chr2:86288128..86290154,3	MCF-7	breast:
5	chr16:3313990..3314691-chr2:86271802..86272302,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000115525	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10175330	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs10178120	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10178540	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10184246	0.83[EUR][1000 genomes]
rs10184462	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10185452	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10187150	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs10195199	1.00[YRI][hapmap]
rs10496318	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs10496320	1.00[YRI][hapmap]
rs1057893	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs11395	0.85[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs11885380	1.00[CHB][hapmap]
rs11899254	1.00[CHB][hapmap]
rs11900161	0.81[CEU][hapmap]
rs12328100	1.00[YRI][hapmap]
rs12469762	1.00[CHB][hapmap]
rs12475079	1.00[CHB][hapmap]
rs12475126	1.00[CHB][hapmap]
rs12477274	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs12478097	1.00[CHB][hapmap]
rs12714162	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12714166	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12714169	0.80[EUR][1000 genomes]
rs12714170	0.80[EUR][1000 genomes]
rs12714171	1.00[CHB][hapmap]
rs12714172	1.00[CHB][hapmap]
rs12714175	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12714177	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs12714178	1.00[YRI][hapmap]
rs12990400	1.00[YRI][hapmap]
rs12994838	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996308	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs12997506	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13001470	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13004643	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13007807	1.00[YRI][hapmap]
rs13013916	0.82[EUR][1000 genomes]
rs13014421	1.00[YRI][hapmap]
rs13019073	0.82[EUR][1000 genomes]
rs13024123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027248	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13028023	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs13403186	0.93[CEU][hapmap]
rs1424522	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs1540391	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17026675	1.00[YRI][hapmap]
rs17027013	1.00[CHB][hapmap]
rs2241438	1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs2278083	1.00[CHB][hapmap]
rs2278536	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2288113	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs2288115	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2289239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2367203	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs2367204	1.00[CHB][hapmap]
rs34263823	0.84[EUR][1000 genomes]
rs34478066	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34723687	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3770059	0.92[JPT][hapmap]
rs3770062	1.00[CHB][hapmap]
rs3770065	1.00[CHB][hapmap]
rs3770067	1.00[CHB][hapmap]
rs3770075	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3821017	0.89[CEU][hapmap]
rs4374375	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs4402761	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs4422155	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs4450596	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs4544439	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs4569473	0.80[EUR][1000 genomes]
rs4597526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832019	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4832234	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4832236	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547661	1.00[CHB][hapmap]
rs6547665	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6707029	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs6725046	0.81[CEU][hapmap]
rs6725372	1.00[CHB][hapmap]
rs6729732	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs6731535	0.80[EUR][1000 genomes]
rs6731995	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs6735014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737950	1.00[CHB][hapmap]
rs6740044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6749090	0.92[CEU][hapmap]
rs6757387	1.00[CHB][hapmap]
rs715334	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs735738	1.00[CHB][hapmap]
rs7560376	1.00[JPT][hapmap]
rs7563742	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7566721	1.00[CHB][hapmap]
rs7569853	0.81[EUR][1000 genomes]
rs7590445	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7608547	0.81[EUR][1000 genomes]
rs7609008	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs8244	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs876242	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs9309632	1.00[CHB][hapmap]
rs9309633	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs9653508	0.92[CEU][hapmap]
rs9653569	1.00[CHB][hapmap]

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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7572386	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs7572386	IMMT	cis	multi-tissue	Pritchard
rs7572386	IMMT	cis	Whole Blood	GTEx
rs7572386	IMMT	cis	Artery Aorta	GTEx
rs7572386	LOC90784	Cis_1M	lymphoblastoid	RTeQTL
rs7572386	IMMT	cis	Esophagus Muscularis	GTEx
rs7572386	IMMT	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86251200-86273200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:86251200-86281400	Strong transcription	H9 Cell Line	embryonic stem cell
3	chr2:86251200-86283000	Strong transcription	HepG2	liver
4	chr2:86251200-86283200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:86251200-86285000	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:86251200-86285200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:86252000-86331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:86252200-86282600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:86252200-86285200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:86252400-86283200	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr2:86252600-86276800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:86264000-86281800	Strong transcription	Fetal Brain Female	brain
13	chr2:86264000-86332000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:86264200-86275400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:86264400-86279400	Strong transcription	Hela-S3	cervix
16	chr2:86264400-86285400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:86264400-86285400	Strong transcription	A549	lung
18	chr2:86264600-86273800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:86264800-86273000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:86264800-86275400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:86265200-86281600	Strong transcription	HMEC	breast
22	chr2:86265200-86284000	Strong transcription	NHEK	skin
23	chr2:86265200-86330000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:86265400-86282600	Strong transcription	Esophagus	oesophagus
25	chr2:86265400-86285200	Strong transcription	Fetal Intestine Large	intestine
26	chr2:86265400-86289800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:86265400-86289800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:86265600-86272600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:86265600-86273200	Strong transcription	Aorta	Aorta
30	chr2:86265600-86274600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:86265600-86282000	Strong transcription	K562	blood
32	chr2:86265600-86282400	Strong transcription	Brain Germinal Matrix	brain
33	chr2:86265600-86289800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:86265800-86274400	Strong transcription	Brain Anterior Caudate	brain
35	chr2:86265800-86276600	Strong transcription	Brain Cingulate Gyrus	brain
36	chr2:86265800-86278600	Weak transcription	Small Intestine	intestine
37	chr2:86265800-86280400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:86265800-86284000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:86265800-86305400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:86266000-86273000	Strong transcription	Colonic Mucosa	Colon
41	chr2:86266000-86274600	Strong transcription	Brain Angular Gyrus	brain
42	chr2:86266000-86275200	Strong transcription	Colon Smooth Muscle	Colon
43	chr2:86266000-86276600	Strong transcription	Brain Hippocampus Middle	brain
44	chr2:86266000-86278000	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr2:86266000-86281800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:86266000-86282600	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:86266000-86282800	Strong transcription	Gastric	stomach
48	chr2:86266000-86282800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr2:86266000-86283800	Strong transcription	Fetal Intestine Small	intestine
50	chr2:86266000-86287800	Weak transcription	Right Atrium	heart

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