Variant report

Variant	rs11983904
Chromosome Location	chr7:86975564-86975565
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr7:86975549-86975742	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:86973791-86975643	GM12891	blood:	n/a	n/a
3	MAX	chr7:86974305-86975581	HepG2	liver:	n/a	n/a
4	MYBL2	chr7:86974629-86975689	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:86974129-86975620	HepG2	liver:	n/a	n/a
6	MAX	chr7:86974220-86975585	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:86974189-86975684	GM12878	blood:	n/a	n/a
8	NRF1	chr7:86974319-86975867	SK-N-SH	brain:	n/a	chr7:86975128-86975137
9	HDAC2	chr7:86974285-86975780	MCF-7	breast:	n/a	chr7:86975639-86975653 chr7:86975601-86975615
10	POLR2A	chr7:86974155-86975571	Raji	blood:	n/a	n/a
11	MAX	chr7:86974373-86975642	MCF-7	breast:	n/a	n/a
12	POLR2A	chr7:86974188-86975579	MCF-7	breast:	n/a	n/a
13	MXI1	chr7:86974177-86975747	IMR90	lung:	n/a	n/a
14	MTA3	chr7:86974080-86975639	GM12878	blood:	n/a	n/a
15	KAP1	chr7:86974210-86975582	HEK293	kidney:	n/a	n/a
16	NFYB	chr7:86974308-86975572	GM12878	blood:	n/a	n/a
17	RCOR1	chr7:86974094-86975572	K562	blood:	n/a	n/a
18	REST	chr7:86974038-86975611	H1-neurons	neurons:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:86975534-86975584	HCM	heart:	n/a
2	chr7:86975534-86975584	NHBE	bronchial:	n/a
3	chr7:86975534-86975584	GM12892	blood:	n/a
4	chr7:86975534-86975584	HRCEpiC	kidney:	n/a
5	chr7:86975534-86975584	HAEpiC	amniotic membrane:	n/a
6	chr7:86975534-86975584	PFSK-1	brain:	n/a
7	chr7:86975534-86975584	PrEC	prostate:	n/a
8	chr7:86975534-86975584	GM12878	blood:	n/a
9	chr7:86975534-86975584	A549	lung:	n/a
10	chr7:86975534-86975584	NHDF-neo	bronchial:	n/a
11	chr7:86975534-86975584	HUVEC	blood vessel:	n/a
12	chr7:86975534-86975584	K562	blood:	n/a
13	chr7:86975534-86975584	PANC-1	pancreas:	n/a
14	chr7:86975534-86975584	HEEpiC	esophagus:	n/a
15	chr7:86975534-86975584	T-47D	breast:	n/a
16	chr7:86975534-86975584	RPTEC	kidney:	n/a
17	chr7:86975534-86975584	HCT-116	colon:	n/a
18	chr7:86975534-86975584	ovcar-3	ovarian:	n/a
19	chr7:86975534-86975584	HCF	heart:	n/a
20	chr7:86975534-86975584	HL-60	blood:	n/a
21	chr7:86975534-86975584	MCF-7	breast:	n/a
22	chr7:86975534-86975584	ProgFib	skin:	n/a
23	chr7:86975534-86975584	HRPEpiC	eye:	n/a
24	chr7:86975534-86975584	MCF10A-Er-Src	breast:	n/a
25	chr7:86975534-86975584	SK-N-MC	brain:	n/a
26	chr7:86975534-86975584	HNPCEpiC	eye:	n/a
27	chr7:86975534-86975584	AoSMC	blood vessel:	n/a
28	chr7:86975534-86975584	HIPEpiC	eye:	n/a
29	chr7:86975534-86975584	BJ	skin:	n/a
30	chr7:86975534-86975584	SK-N-SH_RA	brain:	n/a
31	chr7:86975534-86975584	SKMC	muscle:	n/a
32	chr7:86975534-86975584	Hepatocyte	liver:	n/a
33	chr7:86975534-86975584	Caco-2	colon:	n/a
34	chr7:86975534-86975584	IMR90	lung:	fetal
35	chr7:86975534-86975584	GM12891	blood:	n/a
36	chr7:86975534-86975584	NH-A	brain:	n/a
37	chr7:86975534-86975584	HCPEpiC	choroid plexus:	n/a
38	chr7:86975534-86975584	Hela-S3	cervix:	n/a
39	chr7:86975534-86975584	HPAEpiC	pulmonary alveolar:	n/a
40	chr7:86975534-86975584	Jurkat	blood:	n/a
41	chr7:86975534-86975584	HMEC	breast:	n/a
42	chr7:86975534-86975584	AG09309	skin:	n/a
43	chr7:86975534-86975584	AG10803	skin:	n/a
44	chr7:86975534-86975584	BE2_C	brain:	n/a
45	chr7:86975534-86975584	HepG2	liver:	n/a
46	chr7:86975534-86975584	AG04449	skin:	fetal
47	chr7:86975534-86975584	NT2-D1	testis:	n/a
48	chr7:86975534-86975584	SAEC	small airway:	n/a
49	chr7:86975534-86975584	HRE	kidney:	n/a
50	chr7:86975534-86975584	NB4	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:86973803..86976722-chr7:86989973..86992500,2	MCF-7	breast:
2	chr6:133135224..133137195-chr7:86974442..86977103,2	MCF-7	breast:
3	chr7:86846140..86849007-chr7:86974665..86976624,2	MCF-7	breast:
4	chr7:86972969..86975918-chr7:87004365..87006027,2	K562	blood:
5	chr7:86974685..86977736-chr7:87002429..87005336,3	MCF-7	breast:
6	chr20:45983193..45985158-chr7:86975242..86977827,2	MCF-7	breast:
7	chr7:86973027..86976593-chr7:87504303..87507795,3	K562	blood:

No data

Variant related genes	Relation type
TP53TG1	TF binding region
CROT	TF binding region
TP53TG1	CpG island
CROT	CpG island
ENSG00000006634	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000200397	Chromatin interaction
ENSG00000075303	Chromatin interaction
ENSG00000005469	Chromatin interaction
ENSG00000206754	Chromatin interaction
ENSG00000112306	Chromatin interaction
ENSG00000135185	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10499902	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11971666	1.00[CEU][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11973839	1.00[CEU][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11973893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11975317	1.00[CEU][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11975323	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11975766	1.00[CEU][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11976069	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11976398	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11977095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11977186	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11977237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11983873	1.00[CEU][hapmap];0.94[YRI][hapmap]
rs11984117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35186400	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36101759	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57585161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58807320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59567057	0.85[EUR][1000 genomes]
rs6943391	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6943685	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6943711	1.00[CEU][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6943724	1.00[CEU][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6944261	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6944268	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs6974007	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv1029486	chr7:86856387-87121976	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv539004	chr7:86856387-87121976	Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1814401	chr7:86857553-87034167	Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	esv1826474	chr7:86857553-87034167	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv428177	chr7:86857553-87034167	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	esv1828294	chr7:86857553-87147397	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv1024376	chr7:86905796-87129346	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv1026153	chr7:86905796-87258822	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
15	nsv888678	chr7:86932085-87101407	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11983904	TP53AP1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86972600-86976000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:86972800-86976000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:86972800-86976000	Active TSS	NHLF	lung
4	chr7:86973000-86975600	Active TSS	GM12878-XiMat	blood
5	chr7:86973000-86975800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:86973400-86976200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:86973600-86975800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr7:86973600-86975800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:86973600-86975800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr7:86973600-86976200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:86973800-86975600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:86973800-86975600	Active TSS	Brain Angular Gyrus	brain
13	chr7:86973800-86975600	Active TSS	Thymus	Thymus
14	chr7:86973800-86976000	Active TSS	Fetal Intestine Small	intestine
15	chr7:86973800-86976200	Active TSS	Fetal Intestine Large	intestine
16	chr7:86973800-86976800	Active TSS	Aorta	Aorta
17	chr7:86974000-86975600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:86974000-86975600	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr7:86974000-86975600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr7:86974000-86975600	Active TSS	Fetal Muscle Leg	muscle
21	chr7:86974000-86975800	Active TSS	Fetal Stomach	stomach
22	chr7:86974200-86975600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:86974200-86975600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:86974200-86975600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:86974200-86975600	Active TSS	Esophagus	oesophagus
26	chr7:86974200-86975600	Active TSS	Gastric	stomach
27	chr7:86974200-86975600	Active TSS	Left Ventricle	heart
28	chr7:86974200-86975600	Active TSS	Lung	lung
29	chr7:86974200-86975600	Active TSS	Ovary	ovary
30	chr7:86974200-86975600	Active TSS	Psoas Muscle	Psoas
31	chr7:86974200-86975600	Active TSS	Right Ventricle	heart
32	chr7:86974200-86975600	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr7:86974200-86975800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:86974200-86975800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr7:86974200-86975800	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr7:86974200-86975800	Active TSS	Fetal Brain Male	brain
37	chr7:86974400-86975600	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr7:86974400-86975800	Active TSS	Brain Hippocampus Middle	brain
39	chr7:86974600-86975800	Active TSS	Hela-S3	cervix
40	chr7:86975000-86975600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr7:86975000-86975600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr7:86975000-86975600	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr7:86975000-86975600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr7:86975000-86975600	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr7:86975000-86975600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr7:86975000-86975600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:86975000-86975600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:86975000-86975600	Flanking Active TSS	HUVEC	blood vessel
49	chr7:86975000-86975600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr7:86975000-86975800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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