Variant report

Variant	rs73436854
Chromosome Location	chr15:75750425-75750426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75748588..75750460-chr15:75930709..75932431,2	MCF-7	breast:
2	chr15:75748585..75750516-chr15:75799662..75801280,2	K562	blood:
3	chr15:75749224..75751066-chr15:75754223..75756445,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1128585	0.88[EUR][1000 genomes]
rs11634109	0.84[EUR][1000 genomes]
rs28372916	0.82[EUR][1000 genomes]
rs28372917	0.81[EUR][1000 genomes]
rs3210683	0.88[EUR][1000 genomes]
rs55737327	0.88[EUR][1000 genomes]
rs56178382	0.84[EUR][1000 genomes]
rs56267307	0.88[EUR][1000 genomes]
rs8027749	0.94[EUR][1000 genomes]
rs8041160	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
6	nsv482802	chr15:75686519-75899896	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
8	nsv904387	chr15:75706296-75806911	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv531902	chr15:75724505-75919237	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
10	nsv904388	chr15:75730182-75804543	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	nsv904389	chr15:75739824-75806911	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs73436854	MAN2C1	cis	Esophagus Muscularis	GTEx
rs73436854	MAN2C1	cis	Whole Blood	GTEx
rs73436854	CTD-2323K18.1	cis	lung	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75748600-75758200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:75748600-75759000	Weak transcription	Gastric	stomach
3	chr15:75748800-75757800	Weak transcription	Left Ventricle	heart
4	chr15:75748800-75758600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:75748800-75760000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:75748800-75760800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:75749000-75752800	Weak transcription	Small Intestine	intestine
8	chr15:75749000-75753000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr15:75749000-75753200	Weak transcription	Fetal Kidney	kidney
10	chr15:75749000-75754200	Weak transcription	HSMMtube	muscle
11	chr15:75749000-75755200	Weak transcription	Fetal Brain Female	brain
12	chr15:75749000-75755600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:75749000-75756800	Weak transcription	Primary T cells from cord blood	blood
14	chr15:75749000-75757200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr15:75749000-75758200	Weak transcription	Brain Hippocampus Middle	brain
16	chr15:75749000-75758200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr15:75749000-75758400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr15:75749000-75758600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr15:75749000-75758600	Weak transcription	Esophagus	oesophagus
20	chr15:75749000-75758600	Weak transcription	Right Ventricle	heart
21	chr15:75749000-75758800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:75749000-75759800	Weak transcription	Brain Substantia Nigra	brain
23	chr15:75749000-75760800	Weak transcription	Fetal Brain Male	brain
24	chr15:75749000-75761000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr15:75749000-75797800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr15:75749200-75752800	Weak transcription	Colonic Mucosa	Colon
27	chr15:75749200-75752800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr15:75749200-75752800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr15:75749200-75753200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr15:75749200-75753400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr15:75749200-75753400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:75749200-75753400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr15:75749200-75753600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr15:75749200-75754000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:75749200-75754000	Weak transcription	HSMM	muscle
36	chr15:75749200-75754200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:75749200-75755400	Weak transcription	Fetal Muscle Leg	muscle
38	chr15:75749200-75755800	Weak transcription	Primary B cells from cord blood	blood
39	chr15:75749200-75756200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr15:75749200-75756200	Weak transcription	Fetal Stomach	stomach
41	chr15:75749200-75756600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr15:75749200-75756800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:75749200-75757400	Weak transcription	Thymus	Thymus
44	chr15:75749200-75757800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:75749200-75757800	Weak transcription	Brain Angular Gyrus	brain
46	chr15:75749200-75757800	Weak transcription	Colon Smooth Muscle	Colon
47	chr15:75749200-75757800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr15:75749200-75757800	Weak transcription	HUVEC	blood vessel
49	chr15:75749200-75758000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr15:75749200-75758000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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