Variant report

Variant	rs10851913
Chromosome Location	chr15:79166822-79166823
allele	C/T
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	chr15:79166765-79167045	K562	blood:	n/a	n/a
2	POLR2A	chr15:79166743-79166944	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr15:79164370-79166916	A549	lung:	n/a	n/a
4	CTCF	chr15:79166749-79166835	GM19240	blood:	n/a	n/a
5	MAZ	chr15:79164788-79166870	GM12878	blood:	n/a	chr15:79165634-79165643 chr15:79165905-79165914 chr15:79165751-79165761 chr15:79165754-79165764 chr15:79166018-79166028
6	SIN3A	chr15:79164488-79167250	H1-hESC	embryonic stem cell:	n/a	chr15:79165220-79165229 chr15:79165188-79165199 chr15:79165800-79165811 chr15:79164952-79164965
7	CTCF	chr15:79166771-79166852	GM12891	blood:	n/a	n/a
8	POLR2A	chr15:79165318-79167946	A549	lung:	n/a	n/a
9	POLR2A	chr15:79164507-79168166	K562	blood:	n/a	n/a
10	POLR2A	chr15:79164932-79167213	Hela-S3	cervix:	n/a	n/a
11	MAZ	chr15:79166806-79166909	Hela-S3	cervix:	n/a	n/a
12	REST	chr15:79164193-79167132	H1-neurons	neurons:	n/a	chr15:79165009-79165019
13	MAZ	chr15:79164387-79166934	IMR90	lung:	n/a	chr15:79165634-79165643 chr15:79165905-79165914 chr15:79165751-79165761 chr15:79165754-79165764 chr15:79166018-79166028
14	ZNF384	chr15:79166728-79166941	K562	blood:	n/a	n/a
15	TBL1XR1	chr15:79164678-79166860	GM12878	blood:	n/a	n/a
16	MXI1	chr15:79165462-79166845	K562	blood:	n/a	n/a
17	SIN3AK20	chr15:79166644-79166954	K562	blood:	n/a	n/a
18	ZNF384	chr15:79166776-79167077	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:79164790-79166963	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr15:79165000-79166867	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr15:79165207-79167647	HepG2	liver:	n/a	n/a
22	YY1	chr15:79166679-79166892	K562	blood:	n/a	n/a
23	GTF3C2	chr15:79166010-79167317	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr15:79164402-79167947	IMR90	lung:	n/a	n/a
25	HCFC1	chr15:79164373-79166897	Hela-S3	cervix:	n/a	n/a
26	PML	chr15:79164565-79166838	GM12878	blood:	n/a	n/a
27	MYC	chr15:79164461-79166973	K562	blood:	n/a	chr15:79165634-79165643 chr15:79165905-79165914 chr15:79165751-79165761 chr15:79165754-79165764 chr15:79166018-79166028
28	TBL1XR1	chr15:79164486-79166893	K562	blood:	n/a	n/a
29	HCFC1	chr15:79166676-79166912	K562	blood:	n/a	n/a
30	POLR2A	chr15:79165048-79167244	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr15:79164980-79166906	Hela-S3	cervix:	n/a	n/a
32	YY1	chr15:79166690-79166972	GM12878	blood:	n/a	n/a
33	SMC3	chr15:79165438-79166862	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr15:79165112-79167238	GM12878	blood:	n/a	n/a
35	CHD1	chr15:79165314-79167631	GM12878	blood:	n/a	chr15:79165408-79165415 chr15:79165761-79165771
36	POLR2A	chr15:79164403-79166824	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr15:79166650-79166906	HepG2	liver:	n/a	n/a
38	WRNIP1	chr15:79166707-79167132	GM12878	blood:	n/a	n/a
39	POLR2A	chr15:79165151-79167116	GM12891	blood:	n/a	n/a
40	MXI1	chr15:79164472-79167903	SK-N-SH	brain:	n/a	n/a
41	E2F4	chr15:79166711-79166928	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr15:79166482-79166895	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr15:79164817-79166862	MCF10A-Er-Src	breast:	n/a	n/a
44	UBTF	chr15:79165304-79167211	K562	blood:	n/a	n/a
45	MAZ	chr15:79166659-79167238	K562	blood:	n/a	n/a
46	YY1	chr15:79166682-79166886	GM12878	blood:	n/a	n/a
47	CHD1	chr15:79164330-79168123	IMR90	lung:	n/a	chr15:79165408-79165415 chr15:79165761-79165771
48	CTCF	chr15:79166773-79166866	GM19238	blood:	n/a	n/a
49	MXI1	chr15:79164846-79166876	Hela-S3	cervix:	n/a	n/a
50	CHD1	chr15:79165307-79167547	H1-hESC	embryonic stem cell:	n/a	chr15:79165408-79165415 chr15:79165761-79165771

No.	Distal block	Cell Line	Cell type
1	chr15:79164114..79167612-chr15:79169909..79172320,4	MCF-7	breast:
2	chr15:79149764..79156555-chr15:79163462..79168215,14	K562	blood:
3	chr15:79155412..79157094-chr15:79165344..79167511,2	MCF-7	breast:
4	chr15:79164137..79170280-chr15:79189650..79200289,14	K562	blood:
5	chr15:79166291..79168090-chr15:79212016..79214147,2	K562	blood:
6	chr15:79164147..79167807-chr15:79181870..79184969,5	MCF-7	breast:
7	chr15:79166327..79167939-chr15:79173370..79175440,2	MCF-7	breast:
8	chr15:79147722..79157046-chr15:79163022..79167664,11	K562	blood:
9	chr15:79165092..79167959-chr15:79271269..79275481,5	MCF-7	breast:

Variant related genes	Relation type
MORF4L1	TF binding region
ENSG00000185787	Chromatin interaction
ENSG00000252061	Chromatin interaction
ENSG00000058335	Chromatin interaction
ENSG00000243711	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10851914	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12592340	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12595538	0.84[ASN][1000 genomes]
rs12898532	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12899800	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12911969	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59772922	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6495346	0.84[ASN][1000 genomes]
rs7164529	0.82[ASN][1000 genomes]
rs7171258	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7175271	0.82[ASN][1000 genomes]
rs7180375	0.87[ASN][1000 genomes]
rs7181033	0.84[ASN][1000 genomes]
rs734287	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7402286	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8042186	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8042638	0.90[EUR][1000 genomes]
rs892787	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9806693	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv904432	chr15:79066932-79175813	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3312334	chr15:79162451-79167158	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	n/a
5	esv3312335	chr15:79162465-79167154	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10851913	CTSH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79164000-79167800	Active TSS	Fetal Intestine Large	intestine
2	chr15:79164000-79169200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr15:79164200-79167200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr15:79164200-79167400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr15:79164200-79167400	Active TSS	Fetal Intestine Small	intestine
6	chr15:79164200-79168600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr15:79164200-79168800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:79164400-79167000	Active TSS	Brain Hippocampus Middle	brain
9	chr15:79164400-79167000	Active TSS	Fetal Lung	lung
10	chr15:79164400-79167000	Active TSS	Fetal Stomach	stomach
11	chr15:79164400-79167200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:79164400-79167200	Active TSS	Fetal Kidney	kidney
13	chr15:79164400-79167400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr15:79164400-79167400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:79164400-79167400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:79164400-79167600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:79164400-79167800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr15:79164400-79168000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr15:79164400-79168000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:79164400-79168000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr15:79164400-79168400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:79164400-79169200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:79164600-79167000	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr15:79164600-79167000	Active TSS	Esophagus	oesophagus
25	chr15:79164600-79167000	Active TSS	Pancreas	Pancrea
26	chr15:79164600-79167000	Active TSS	Placenta Amnion	Placenta Amnion
27	chr15:79164600-79167200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:79164600-79167200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:79164600-79167400	Active TSS	Right Ventricle	heart
30	chr15:79164600-79167400	Active TSS	HMEC	breast
31	chr15:79164600-79167600	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr15:79164600-79167600	Active TSS	Colonic Mucosa	Colon
33	chr15:79164600-79167600	Active TSS	Psoas Muscle	Psoas
34	chr15:79164600-79167800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr15:79164600-79167800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:79164600-79167800	Active TSS	HSMMtube	muscle
37	chr15:79164600-79168000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr15:79164600-79168000	Active TSS	Aorta	Aorta
39	chr15:79164600-79169400	Active TSS	Ovary	ovary
40	chr15:79164600-79169800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr15:79164800-79167000	Active TSS	Brain Anterior Caudate	brain
42	chr15:79164800-79167000	Active TSS	Brain Cingulate Gyrus	brain
43	chr15:79164800-79167000	Active TSS	Fetal Muscle Trunk	muscle
44	chr15:79164800-79167000	Active TSS	Small Intestine	intestine
45	chr15:79164800-79167200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr15:79164800-79167200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr15:79164800-79167200	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr15:79164800-79167200	Active TSS	Brain Substantia Nigra	brain
49	chr15:79164800-79167200	Active TSS	Stomach Mucosa	stomach
50	chr15:79164800-79167400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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