Variant report

Variant	rs72835920
Chromosome Location	chr17:16556425-16556426
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	TCF12	chr17:16556346-16557550	A549	lung:	n/a	chr17:16556893-16556900 chr17:16556891-16556901
2	MXI1	chr17:16556314-16557282	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr17:16556199-16557445	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr17:16556422-16556744	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr17:16556407-16557614	HCT-116	colon:	n/a	chr17:16556820-16556830
6	SIN3A	chr17:16556251-16557380	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr17:16556350-16557245	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr17:16556270-16556534	A549	lung:	n/a	n/a
9	TBL1XR1	chr17:16556246-16556508	K562	blood:	n/a	n/a
10	MAX	chr17:16556208-16557597	A549	lung:	n/a	chr17:16556820-16556830
11	POLR2A	chr17:16556401-16557325	GM12878	blood:	n/a	n/a
12	SIN3AK20	chr17:16556284-16557551	MCF-7	breast:	n/a	n/a
13	TBP	chr17:16556385-16557228	Hela-S3	cervix:	n/a	n/a
14	HCFC1	chr17:16556175-16558257	Hela-S3	cervix:	n/a	n/a
15	TAF1	chr17:16556392-16557347	A549	lung:	n/a	n/a
16	POLR2A	chr17:16556370-16557575	H1-neurons	neurons:	n/a	n/a
17	ARID3A	chr17:16556382-16556582	HepG2	liver:	n/a	n/a
18	REST	chr17:16556307-16557262	A549	lung:	n/a	n/a
19	POLR2A	chr17:16556407-16557290	GM12891	blood:	n/a	n/a
20	POLR2A	chr17:16556405-16557318	ECC-1	luminal epithelium:	n/a	n/a
21	REST	chr17:16555981-16557853	H1-neurons	neurons:	n/a	n/a
22	SP1	chr17:16556344-16557653	HCT-116	colon:	n/a	chr17:16556994-16557004 chr17:16556953-16556963 chr17:16557239-16557248 chr17:16557237-16557249 chr17:16556952-16556964 chr17:16557243-16557250 chr17:16557237-16557249 chr17:16556952-16556964 chr17:16557238-16557247
23	CUX1	chr17:16556351-16556496	K562	blood:	n/a	n/a
24	POLR2A	chr17:16556346-16557505	PFSK-1	brain:	n/a	n/a
25	MYC	chr17:16556352-16556479	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr17:16556055-16557635	H1-neurons	neurons:	n/a	n/a
27	FOSL2	chr17:16556312-16557323	A549	lung:	n/a	chr17:16556751-16556760
28	CTCF	chr17:16556380-16556530	AG04450	lung:	n/a	n/a
29	MAX	chr17:16556382-16557536	A549	lung:	n/a	chr17:16556820-16556830
30	E2F4	chr17:16556272-16557574	MCF10A-Er-Src	breast:	n/a	chr17:16557118-16557130 chr17:16557181-16557190 chr17:16557036-16557045 chr17:16557054-16557064
31	MAZ	chr17:16556416-16557922	IMR90	lung:	n/a	chr17:16556820-16556830

No.	Distal block	Cell Line	Cell type
1	chr17:16524378..16526061-chr17:16555059..16557020,2	K562	blood:
2	chr17:16341411..16344243-chr17:16555470..16557634,2	K562	blood:
3	chr17:16556241..16557924-chr4:3075466..3077603,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264765	TF binding region
ENSG00000175061	Chromatin interaction
ENSG00000251075	Chromatin interaction
ENSG00000197386	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11654767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11656972	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11658427	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11658964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16959888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3813766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66553135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72835914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72835919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72835926	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72835927	0.81[AMR][1000 genomes]
rs9889590	0.90[EUR][1000 genomes]
rs9916655	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
2	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers 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 lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
4	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	esv2758442	chr17:16527056-16817437	Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv2758676	chr17:16527056-16817437	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv427991	chr17:16527056-16817437	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16532400-16556600	Weak transcription	Lung	lung
2	chr17:16555400-16556600	Flanking Active TSS	Dnd41	blood
3	chr17:16555800-16557400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:16556000-16556600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr17:16556000-16556600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr17:16556000-16556600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr17:16556000-16556600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr17:16556000-16556600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr17:16556000-16556600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:16556000-16556600	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr17:16556000-16556600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr17:16556000-16556600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr17:16556000-16556600	Flanking Active TSS	Fetal Heart	heart
14	chr17:16556000-16556600	Flanking Active TSS	Fetal Lung	lung
15	chr17:16556000-16556600	Flanking Active TSS	Fetal Muscle Leg	muscle
16	chr17:16556000-16556600	Enhancers	Spleen	Spleen
17	chr17:16556000-16556600	Flanking Active TSS	GM12878-XiMat	blood
18	chr17:16556000-16556600	Flanking Active TSS	HMEC	breast
19	chr17:16556000-16556600	Flanking Active TSS	HSMMtube	muscle
20	chr17:16556000-16556600	Flanking Active TSS	K562	blood
21	chr17:16556000-16556600	Flanking Active TSS	Osteobl	bone
22	chr17:16556000-16556800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr17:16556000-16556800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:16556000-16556800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr17:16556000-16556800	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr17:16556000-16556800	Flanking Active TSS	Liver	Liver
27	chr17:16556000-16556800	Flanking Active TSS	Fetal Brain Male	brain
28	chr17:16556000-16556800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr17:16556000-16556800	Flanking Active TSS	Hela-S3	cervix
30	chr17:16556000-16556800	Flanking Active TSS	HUVEC	blood vessel
31	chr17:16556000-16556800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr17:16556000-16556800	Flanking Active TSS	NHEK	skin
33	chr17:16556000-16557400	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr17:16556000-16557400	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr17:16556000-16557600	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr17:16556000-16557600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:16556000-16557600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr17:16556000-16557600	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr17:16556000-16557600	Active TSS	Fetal Muscle Trunk	muscle
40	chr17:16556200-16556600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr17:16556200-16556600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr17:16556200-16556600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr17:16556200-16556600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr17:16556200-16556600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr17:16556200-16556600	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr17:16556200-16556600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr17:16556200-16556600	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr17:16556200-16556600	Flanking Active TSS	Thymus	Thymus
49	chr17:16556200-16556600	Flanking Active TSS	NH-A	brain
50	chr17:16556200-16556800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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