Variant report

Variant	rs12268133
Chromosome Location	chr10:93315271-93315272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:93309163..93311774-chr10:93314390..93315926,2	MCF-7	breast:
2	chr10:93309981..93319603-chr10:93387875..93394075,18	MCF-7	breast:
3	chr10:93312317..93316991-chr10:93389052..93393840,6	MCF-7	breast:
4	chr10:93310787..93313296-chr10:93313678..93315496,2	K562	blood:

Variant related genes	Relation type
ENSG00000119938	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10881918	0.81[ASN][1000 genomes]
rs10881919	0.81[ASN][1000 genomes]
rs10881923	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186608	0.85[GIH][hapmap]
rs11186610	0.81[ASN][1000 genomes]
rs11186613	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12241797	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12246543	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs12253464	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs12255223	0.81[ASN][1000 genomes]
rs12256369	0.81[ASN][1000 genomes]
rs12256726	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12260905	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12263117	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1411120	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1411121	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106760	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2094710	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4933659	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs4933660	0.81[ASN][1000 genomes]
rs4933661	0.81[ASN][1000 genomes]
rs4933662	0.81[ASN][1000 genomes]
rs4933663	0.81[ASN][1000 genomes]
rs4933665	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4933666	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4933667	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4933668	1.00[ASN][1000 genomes]
rs4933669	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56198147	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59997744	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7068979	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.81[ASN][1000 genomes]
rs7074115	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs716361	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.83[MEX][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72819249	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72819252	1.00[ASN][1000 genomes]
rs7477129	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7895083	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7904550	0.82[EUR][1000 genomes]
rs7908831	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7910891	1.00[CHB][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7911125	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs928118	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv19622	chr10:93305214-93361590	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12268133	MARCH5	cis	cerebellum	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93311600-93316400	Enhancers	HepG2	liver
2	chr10:93311600-93321000	Enhancers	Fetal Intestine Small	intestine
3	chr10:93312000-93317000	Weak transcription	K562	blood
4	chr10:93312000-93320800	Enhancers	Fetal Intestine Large	intestine
5	chr10:93312000-93321000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:93312200-93316200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr10:93312200-93316200	Weak transcription	A549	lung
8	chr10:93312200-93316600	Weak transcription	Osteobl	bone
9	chr10:93312200-93318600	Enhancers	Fetal Heart	heart
10	chr10:93312400-93316400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:93312600-93316000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr10:93312600-93316200	Weak transcription	Psoas Muscle	Psoas
13	chr10:93312600-93320000	Enhancers	Liver	Liver
14	chr10:93312800-93316400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:93312800-93316400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr10:93313800-93316200	Enhancers	Hela-S3	cervix
17	chr10:93314000-93316000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:93314000-93316400	Enhancers	Esophagus	oesophagus
19	chr10:93314000-93316800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:93314400-93316000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:93314400-93316200	Enhancers	Duodenum Mucosa	Duodenum
22	chr10:93314400-93316200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr10:93314400-93316600	Enhancers	HMEC	breast
24	chr10:93314600-93315400	Enhancers	Pancreas	Pancrea
25	chr10:93314600-93316000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:93314800-93316200	Weak transcription	Right Atrium	heart
27	chr10:93314800-93318200	Enhancers	Fetal Lung	lung
28	chr10:93314800-93321600	Enhancers	Stomach Mucosa	stomach
29	chr10:93315200-93316200	Weak transcription	Colonic Mucosa	Colon
30	chr10:93315200-93316200	Weak transcription	Fetal Muscle Leg	muscle
31	chr10:93315200-93316200	Weak transcription	Fetal Stomach	stomach
32	chr10:93315200-93316400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr10:93315200-93316800	Enhancers	NHEK	skin
34	chr10:93315200-93317000	Weak transcription	Left Ventricle	heart
35	chr10:93315200-93317400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr10:93315200-93317800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr10:93315200-93321000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:93315200-93321200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr10:93315200-93321200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr10:93315200-93322600	Weak transcription	Aorta	Aorta
41	chr10:93315200-93325600	Weak transcription	Gastric	stomach
42	chr10:93315200-93335600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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