Variant report

Variant	rs11186923
Chromosome Location	chr10:94089160-94089161
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr10:94088839-94089428	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr10:94088730-94089217	ECC-1	luminal epithelium:	n/a	n/a
3	FOSL1	chr10:94088676-94089321	HCT-116	colon:	n/a	n/a
4	CEBPB	chr10:94088773-94089184	ECC-1	luminal epithelium:	n/a	n/a
5	FOSL1	chr10:94088588-94089306	HCT-116	colon:	n/a	n/a
6	CEBPB	chr10:94088530-94089374	Hela-S3	cervix:	n/a	n/a
7	JUND	chr10:94088575-94089243	HCT-116	colon:	n/a	n/a
8	JUND	chr10:94088618-94089277	HCT-116	colon:	n/a	n/a
9	CEBPB	chr10:94088775-94089219	MCF-7	breast:	n/a	n/a
10	STAT3	chr10:94088783-94089188	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr10:94088715-94089188	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr10:94088807-94089253	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr10:94088663-94089263	MCF10A-Er-Src	breast:	n/a	n/a
14	CEBPB	chr10:94088589-94089303	HCT-116	colon:	n/a	n/a
15	FOS	chr10:94088733-94089178	MCF10A-Er-Src	breast:	n/a	n/a
16	SRF	chr10:94088729-94089276	HCT-116	colon:	n/a	n/a
17	STAT3	chr10:94088703-94089194	MCF10A-Er-Src	breast:	n/a	n/a
18	EP300	chr10:94088669-94089327	Hela-S3	cervix:	n/a	n/a
19	SP1	chr10:94088617-94089216	HCT-116	colon:	n/a	n/a
20	STAT3	chr10:94088731-94089196	MCF10A-Er-Src	breast:	n/a	n/a
21	SP1	chr10:94088608-94089304	HCT-116	colon:	n/a	n/a
22	MYC	chr10:94088730-94089187	MCF10A-Er-Src	breast:	n/a	n/a
23	MAX	chr10:94088667-94089366	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr10:94088539-94089305	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:94083514..94086309-chr10:94087517..94090496,2	K562	blood:

Variant related genes	Relation type
MARCH5	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10509644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1057848	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs10786035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10882031	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.84[MKK][hapmap]
rs10882037	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs10882049	0.86[ASN][1000 genomes]
rs10882052	0.82[ASN][1000 genomes]
rs11186839	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11186841	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs11186852	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs11186856	0.88[CHD][hapmap]
rs11186859	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11186860	0.89[CHB][hapmap]
rs11186866	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11186868	0.86[MKK][hapmap]
rs11186870	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11186875	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11186879	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs11186884	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.86[MKK][hapmap]
rs11186888	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11186894	0.83[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.86[MKK][hapmap]
rs11186895	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs11186898	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.88[MKK][hapmap]
rs11186899	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11186903	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11186910	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11186912	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11186926	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186931	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186932	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12358967	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107517	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs17365265	1.00[YRI][hapmap]
rs1812851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2421831	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs34761542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781230	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs61875240	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61875241	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61875243	0.87[ASN][1000 genomes]
rs6583802	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs7067935	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs7080813	0.86[ASN][1000 genomes]
rs7088903	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs746842	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs7903767	0.82[ASN][1000 genomes]
rs9787608	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]

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	nsv975763	chr10:93822289-94105956	Enhancers Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11186923	MARCH5	cis	cerebellum	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94052000-94111800	Weak transcription	Gastric	stomach
2	chr10:94052200-94109400	Weak transcription	Esophagus	oesophagus
3	chr10:94052400-94101200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr10:94052400-94101600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:94052400-94108800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr10:94052400-94114600	Weak transcription	Colonic Mucosa	Colon
7	chr10:94052600-94102000	Weak transcription	NHLF	lung
8	chr10:94052600-94109400	Weak transcription	HSMMtube	muscle
9	chr10:94053400-94109400	Weak transcription	Fetal Brain Male	brain
10	chr10:94054600-94101400	Weak transcription	HSMM	muscle
11	chr10:94063600-94109400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr10:94063600-94111800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr10:94064000-94101400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr10:94064000-94109200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:94065800-94093000	Weak transcription	Psoas Muscle	Psoas
16	chr10:94066200-94101600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr10:94067000-94089600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr10:94067000-94113400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr10:94068600-94089800	Weak transcription	Small Intestine	intestine
20	chr10:94070800-94094800	Weak transcription	Colon Smooth Muscle	Colon
21	chr10:94071800-94108200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr10:94072000-94102200	Weak transcription	NHDF-Ad	bronchial
23	chr10:94072200-94109000	Weak transcription	Brain Anterior Caudate	brain
24	chr10:94072200-94109400	Weak transcription	Aorta	Aorta
25	chr10:94072400-94089800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr10:94072400-94101600	Weak transcription	NH-A	brain
27	chr10:94072600-94094800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:94072800-94101200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr10:94073000-94090000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr10:94073000-94101800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr10:94073600-94101600	Weak transcription	Spleen	Spleen
32	chr10:94074000-94101600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:94074000-94101600	Weak transcription	Right Ventricle	heart
34	chr10:94074000-94102000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:94074000-94109200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:94077800-94100000	Weak transcription	Fetal Thymus	thymus
37	chr10:94078400-94089600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:94078400-94101200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr10:94078400-94106800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr10:94078800-94100000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr10:94078800-94100400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr10:94078800-94101600	Weak transcription	Thymus	Thymus
43	chr10:94079000-94100200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr10:94079000-94102200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr10:94079000-94102800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr10:94081000-94090400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr10:94081000-94095000	Weak transcription	Fetal Intestine Large	intestine
48	chr10:94081000-94102200	Weak transcription	Fetal Kidney	kidney
49	chr10:94081000-94109400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:94081000-94112800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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