Variant report

Variant	rs11981905
Chromosome Location	chr7:5014218-5014219
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	ZBTB7A	chr7:5013299-5014399	K562	blood:	n/a	n/a
2	POLR2A	chr7:5014131-5014511	HUVEC	blood vessel:	n/a	n/a
3	MXI1	chr7:5013468-5014570	GM12878	blood:	n/a	n/a
4	CHD2	chr7:5013596-5014366	K562	blood:	n/a	chr7:5014128-5014138
5	YY1	chr7:5014060-5014376	K562	blood:	n/a	n/a
6	CHD2	chr7:5013431-5014382	GM12878	blood:	n/a	chr7:5014128-5014138
7	PAX5	chr7:5013447-5014271	GM12892	blood:	n/a	chr7:5014247-5014256 chr7:5013831-5013850
8	PAX5	chr7:5013962-5014245	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr7:5013318-5014636	SK-N-SH	brain:	n/a	n/a
10	CREB1	chr7:5013385-5014328	A549	lung:	n/a	n/a
11	BHLHE40	chr7:5013437-5014320	GM12878	blood:	n/a	chr7:5013793-5013809 chr7:5014073-5014089
12	MAX	chr7:5013479-5014407	A549	lung:	n/a	n/a
13	GABPA	chr7:5014198-5014435	H1-hESC	embryonic stem cell:	n/a	chr7:5014418-5014432
14	MYC	chr7:5013339-5014594	K562	blood:	n/a	n/a
15	MYC	chr7:5013483-5014456	MCF-7	breast:	n/a	n/a
16	CTCF	chr7:5013153-5014735	SK-N-SH	brain:	n/a	chr7:5014126-5014139
17	POLR2A	chr7:5013496-5014320	GM12878	blood:	n/a	n/a
18	MAX	chr7:5013341-5014596	A549	lung:	n/a	n/a
19	POLR2A	chr7:5013511-5014522	GM12878	blood:	n/a	n/a
20	CBX3	chr7:5013157-5014292	K562	blood:	n/a	n/a
21	MXI1	chr7:5013448-5014465	HepG2	liver:	n/a	n/a
22	EGR1	chr7:5013186-5014247	HCT-116	colon:	n/a	n/a
23	TAF1	chr7:5013373-5014501	HepG2	liver:	n/a	n/a
24	POLR2A	chr7:5013936-5014388	GM12878	blood:	n/a	n/a
25	MXI1	chr7:5013555-5014524	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr7:5013458-5014450	Raji	blood:	n/a	n/a
27	POU2F2	chr7:5013244-5014346	GM12878	blood:	n/a	chr7:5013992-5014004
28	MYC	chr7:5014190-5014561	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr7:5013393-5014489	MCF-7	breast:	n/a	n/a
30	SIN3AK20	chr7:5013509-5014517	K562	blood:	n/a	n/a
31	HMGN3	chr7:5013533-5014388	K562	blood:	n/a	n/a
32	SIN3AK20	chr7:5013367-5014436	PANC-1	pancreas:	n/a	n/a
33	TAF1	chr7:5013491-5014341	HepG2	liver:	n/a	n/a
34	ETS1	chr7:5013364-5014265	K562	blood:	n/a	n/a
35	MAZ	chr7:5013418-5014368	Hela-S3	cervix:	n/a	n/a
36	HCFC1	chr7:5013187-5014447	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr7:5013528-5014413	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr7:5013489-5014466	K562	blood:	n/a	n/a
39	POLR2A	chr7:5013457-5014275	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr7:5013545-5014480	IMR90	lung:	n/a	n/a
41	HEY1	chr7:5013515-5014303	K562	blood:	n/a	chr7:5013928-5013943 chr7:5014244-5014259 chr7:5014077-5014092
42	MAX	chr7:5013419-5014539	ECC-1	luminal epithelium:	n/a	n/a
43	MAX	chr7:5013465-5014441	GM12878	blood:	n/a	n/a
44	E2F6	chr7:5013416-5014608	K562	blood:	n/a	chr7:5014057-5014068 chr7:5013529-5013539 chr7:5014012-5014023
45	MYC	chr7:5013455-5014532	K562	blood:	n/a	n/a
46	MXI1	chr7:5013281-5014756	IMR90	lung:	n/a	chr7:5013398-5013407
47	MYC	chr7:5013442-5014571	NB4	blood:	n/a	n/a
48	POLR2A	chr7:5013483-5014470	GM12878	blood:	n/a	n/a
49	ESRRA	chr7:5013130-5014286	GM12878	blood:	n/a	chr7:5013563-5013576
50	PML	chr7:5013290-5014506	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:5012537..5014887-chr7:5022005..5024140,2	K562	blood:
2	chr7:5013631..5016563-chr7:5022027..5023765,2	K562	blood:
3	chr7:5012695..5014428-chr7:5820890..5822170,10	MCF-7	breast:
4	chr7:5012957..5014985-chr7:5085347..5086905,2	MCF-7	breast:
5	chr7:5013565..5014445-chr7:5820432..5821785,4	K562	blood:
6	chr7:5013249..5014674-chr7:5819932..5821408,8	Hela-S3	cervix:
7	chr7:5012944..5014466-chr7:5819776..5821589,2	MCF-7	breast:
8	chr7:5012983..5015694-chr7:5819277..5821133,2	K562	blood:
9	chr7:5012284..5014483-chr7:5819277..5821280,2	K562	blood:

Variant related genes	Relation type
RNF216P1	TF binding region
ENSG00000272968	Chromatin interaction
ENSG00000196204	Chromatin interaction
ENSG00000146587	Chromatin interaction
ENSG00000011275	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12702059	0.93[ASN][1000 genomes]
rs13245015	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28401649	0.89[EUR][1000 genomes]
rs28712306	0.92[ASN][1000 genomes]
rs2942561	0.93[ASN][1000 genomes]
rs2965031	0.88[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs34218981	0.84[ASN][1000 genomes]
rs6945927	0.83[CHB][hapmap];0.84[ASN][1000 genomes]
rs6957907	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6977268	0.82[ASN][1000 genomes]
rs6978215	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7782681	0.81[ASN][1000 genomes]
rs7782832	0.82[ASN][1000 genomes]
rs907719	0.88[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap]
rs9639898	0.82[CEU][hapmap]
rs9690781	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1021170	chr7:4831361-5058033	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv538706	chr7:4831361-5058033	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1025467	chr7:4850447-5021443	ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1033855	chr7:4862677-5069764	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
13	nsv1019120	chr7:4929653-5138409	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	nsv917078	chr7:4962123-5151633	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
15	nsv525289	chr7:5003373-5083741	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	esv3379760	chr7:5012976-5014924	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11981905	RNF216P1	cis	Esophagus Mucosa	GTEx
rs11981905	RNF216	cis	cerebellum	SCAN
rs11981905	RNF216L	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5012800-5014800	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr7:5013200-5014400	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr7:5013200-5014400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr7:5013200-5014600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:5013200-5014600	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr7:5013200-5014600	Active TSS	HSMMtube	muscle
7	chr7:5013200-5014800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:5013200-5014800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:5013200-5014800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:5013200-5014800	Active TSS	Colonic Mucosa	Colon
11	chr7:5013200-5014800	Active TSS	Duodenum Mucosa	Duodenum
12	chr7:5013200-5014800	Active TSS	Fetal Stomach	stomach
13	chr7:5013200-5014800	Active TSS	HUVEC	blood vessel
14	chr7:5013200-5014800	Active TSS	NHDF-Ad	bronchial
15	chr7:5013200-5015000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:5013200-5015000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:5013200-5015000	Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr7:5013200-5015000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:5013200-5015000	Active TSS	Muscle Satellite Cultured Cells	--
20	chr7:5013200-5015000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:5013200-5015000	Active TSS	Brain Angular Gyrus	brain
22	chr7:5013200-5015000	Active TSS	Brain Anterior Caudate	brain
23	chr7:5013200-5015000	Active TSS	Brain Cingulate Gyrus	brain
24	chr7:5013200-5015000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:5013200-5015000	Active TSS	Fetal Brain Female	brain
26	chr7:5013200-5015000	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr7:5013200-5015000	Active TSS	Stomach Smooth Muscle	stomach
28	chr7:5013200-5015000	Active TSS	A549	lung
29	chr7:5013200-5015000	Active TSS	GM12878-XiMat	blood
30	chr7:5013200-5015000	Active TSS	Osteobl	bone
31	chr7:5013200-5015200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr7:5013200-5015200	Active TSS	Psoas Muscle	Psoas
33	chr7:5013200-5015200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr7:5013200-5015200	Active TSS	Right Ventricle	heart
35	chr7:5013200-5015200	Active TSS	HMEC	breast
36	chr7:5013200-5015200	Active TSS	HSMM	muscle
37	chr7:5013200-5015200	Active TSS	K562	blood
38	chr7:5013200-5015400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:5013200-5015400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:5013200-5015400	Active TSS	Hela-S3	cervix
41	chr7:5013200-5015400	Active TSS	NHLF	lung
42	chr7:5013400-5014400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr7:5013400-5014400	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr7:5013400-5014400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:5013400-5014400	Active TSS	Fetal Lung	lung
46	chr7:5013400-5014400	Active TSS	Spleen	Spleen
47	chr7:5013400-5014600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:5013400-5014600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr7:5013400-5014600	Active TSS	Brain Substantia Nigra	brain
50	chr7:5013400-5014600	Active TSS	Esophagus	oesophagus

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