Variant report

Variant	rs9891545
Chromosome Location	chr17:67310580-67310581
allele	A/C/G
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	EP300	chr17:67310437-67310710	SK-N-SH_RA	brain:	n/a	chr17:67310577-67310591
2	FOXA1	chr17:67310478-67310899	T-47D	breast:	n/a	chr17:67310589-67310601 chr17:67310585-67310597
3	FOXA2	chr17:67310532-67310913	HepG2	liver:	n/a	chr17:67310589-67310601 chr17:67310585-67310597
4	FOXA2	chr17:67310556-67311087	A549	lung:	n/a	chr17:67310589-67310601 chr17:67310585-67310597
5	FOXA1	chr17:67310537-67310917	HepG2	liver:	n/a	chr17:67310589-67310601 chr17:67310585-67310597
6	TCF12	chr17:67310214-67310840	SK-N-SH	brain:	n/a	n/a
7	FOXA1	chr17:67310469-67311007	HepG2	liver:	n/a	chr17:67310589-67310601 chr17:67310585-67310597
8	EP300	chr17:67310383-67310678	SK-N-SH_RA	brain:	n/a	chr17:67310577-67310591
9	FOXA2	chr17:67310460-67311391	HepG2	liver:	n/a	chr17:67310589-67310601 chr17:67310585-67310597
10	POLR2A	chr17:67310422-67310743	PANC-1	pancreas:	n/a	n/a
11	FOXA1	chr17:67310446-67310932	HepG2	liver:	n/a	chr17:67310589-67310601 chr17:67310585-67310597
12	TCF12	chr17:67310211-67310849	SK-N-SH	brain:	n/a	n/a
13	FOXA1	chr17:67310495-67310878	T-47D	breast:	n/a	chr17:67310589-67310601 chr17:67310585-67310597
14	FOXA1	chr17:67310502-67311045	HepG2	liver:	n/a	chr17:67310589-67310601 chr17:67310585-67310597
15	FOXA2	chr17:67310443-67311083	A549	lung:	n/a	chr17:67310589-67310601 chr17:67310585-67310597

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67309727..67311288-chr17:73775195..73776995,2	MCF-7	breast:

Variant related genes	Relation type
SNRPGP4	TF binding region
ENSG00000132475	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16973878	1.00[AFR][1000 genomes]
rs9911160	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv575932	chr17:67149973-67327806	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription 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	15 gene(s)	inside rSNPs	diseases
2	nsv457889	chr17:67210992-67332355	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
3	nsv575934	chr17:67210992-67332355	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
4	nsv833527	chr17:67240575-67400871	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv575935	chr17:67256162-67327806	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
6	nsv457890	chr17:67264339-67327806	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
7	nsv575936	chr17:67264339-67327806	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
8	nsv1063768	chr17:67268342-67311136	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
9	nsv908706	chr17:67290840-67332355	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
10	nsv575937	chr17:67304447-67327806	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67244000-67321800	Weak transcription	Right Ventricle	heart
2	chr17:67261400-67322000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:67276400-67310600	Weak transcription	Brain Substantia Nigra	brain
4	chr17:67283800-67312800	Weak transcription	HMEC	breast
5	chr17:67284000-67312800	Weak transcription	NHEK	skin
6	chr17:67285000-67316200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr17:67289800-67310800	Weak transcription	Colon Smooth Muscle	Colon
8	chr17:67289800-67312800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr17:67290000-67310600	Weak transcription	Brain Angular Gyrus	brain
10	chr17:67290000-67311000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr17:67290000-67311000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr17:67290000-67317400	Weak transcription	Gastric	stomach
13	chr17:67290200-67319600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr17:67290600-67312800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:67291800-67313800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr17:67291800-67321800	Weak transcription	Esophagus	oesophagus
17	chr17:67293200-67315600	Weak transcription	GM12878-XiMat	blood
18	chr17:67294000-67310600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr17:67296600-67310600	Weak transcription	Ovary	ovary
20	chr17:67297000-67310600	Weak transcription	Fetal Kidney	kidney
21	chr17:67297000-67319400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr17:67297000-67321800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr17:67303800-67310800	Weak transcription	HepG2	liver
24	chr17:67304000-67310600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr17:67304200-67321800	Weak transcription	HUVEC	blood vessel
26	chr17:67305200-67321600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:67305600-67313000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr17:67306000-67321800	Weak transcription	Placenta	Placenta
29	chr17:67306200-67312800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr17:67306400-67310600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr17:67306400-67321000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr17:67306600-67319600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr17:67306800-67310800	Weak transcription	Pancreas	Pancrea
34	chr17:67307000-67321800	Weak transcription	Left Ventricle	heart
35	chr17:67307000-67321800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr17:67307200-67310600	Weak transcription	Adipose Nuclei	Adipose
37	chr17:67307200-67310600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr17:67307200-67313600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr17:67307200-67318800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr17:67307200-67319000	Weak transcription	Fetal Intestine Large	intestine
41	chr17:67307200-67321800	Weak transcription	Thymus	Thymus
42	chr17:67307600-67311000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr17:67307600-67316000	Weak transcription	NHDF-Ad	bronchial
44	chr17:67308000-67321200	Weak transcription	Fetal Intestine Small	intestine
45	chr17:67308800-67310600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr17:67308800-67310600	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr17:67308800-67311200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr17:67309400-67310600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr17:67310000-67310600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr17:67310000-67311600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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