Variant report

Variant	rs16965199
Chromosome Location	chr17:37788740-37788741
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:37788518-37789125	PANC-1	pancreas:	n/a	n/a
2	TCF7L2	chr17:37788452-37789158	PANC-1	pancreas:	n/a	n/a
3	MYC	chr17:37788504-37788817	NB4	blood:	n/a	n/a
4	ESR1	chr17:37788704-37789162	ECC-1	luminal epithelium:	n/a	n/a
5	ZBTB7A	chr17:37788460-37789221	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr17:37788721-37789231	HCT-116	colon:	n/a	n/a
7	TCF7L2	chr17:37788461-37789244	HCT-116	colon:	n/a	n/a
8	TCF12	chr17:37788308-37789306	ECC-1	luminal epithelium:	n/a	n/a
9	NFIC	chr17:37788401-37789197	ECC-1	luminal epithelium:	n/a	chr17:37788950-37788978
10	ESR1	chr17:37788714-37789149	ECC-1	luminal epithelium:	n/a	n/a
11	ESR1	chr17:37788635-37789212	ECC-1	luminal epithelium:	n/a	n/a
12	TCF12	chr17:37788499-37789209	ECC-1	luminal epithelium:	n/a	n/a
13	EP300	chr17:37788444-37789342	ECC-1	luminal epithelium:	n/a	n/a
14	NR3C1	chr17:37788728-37789160	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr17:37788457-37789287	HL-60	blood:	n/a	n/a
16	NFIC	chr17:37788415-37789286	ECC-1	luminal epithelium:	n/a	chr17:37788950-37788978
17	POLR2A	chr17:37788736-37789187	HCT-116	colon:	n/a	n/a
18	POLR2A	chr17:37787477-37789095	HCT-116	colon:	n/a	n/a
19	MAX	chr17:37788384-37789124	ECC-1	luminal epithelium:	n/a	n/a
20	MAX	chr17:37788528-37788811	NB4	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:37776436..37778537-chr17:37788682..37790894,2	MCF-7	breast:

No data

Variant related genes	Relation type
STARD3	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28498326	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35797948	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5638	1.00[EUR][1000 genomes]
rs9532	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9896679	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9908580	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9913626	0.86[AFR][1000 genomes];0.88[AMR][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	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
3	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
10	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
11	nsv908209	chr17:37749259-37790340	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv908212	chr17:37765047-37790340	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv457738	chr17:37770005-37831035	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	nsv574991	chr17:37770005-37831035	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv516757	chr17:37781849-37834541	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37778800-37790600	Weak transcription	K562	blood
2	chr17:37783400-37792200	Weak transcription	Lung	lung
3	chr17:37783600-37790600	Weak transcription	Gastric	stomach
4	chr17:37784000-37789600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr17:37784600-37789000	Enhancers	H9 Cell Line	embryonic stem cell
6	chr17:37784600-37792800	Weak transcription	Right Atrium	heart
7	chr17:37785000-37791000	Weak transcription	Esophagus	oesophagus
8	chr17:37785200-37789800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:37785200-37792800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr17:37785200-37792800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:37785400-37792600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr17:37785800-37792400	Weak transcription	Fetal Lung	lung
13	chr17:37786600-37791400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr17:37786800-37792000	Weak transcription	Spleen	Spleen
15	chr17:37787000-37790400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:37787000-37792600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr17:37787400-37788800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:37787400-37788800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr17:37787400-37789200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr17:37787400-37789200	Enhancers	Fetal Intestine Small	intestine
21	chr17:37787400-37789400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr17:37787400-37789600	Enhancers	Primary hematopoietic stem cells	blood
23	chr17:37787400-37791200	Enhancers	Fetal Intestine Large	intestine
24	chr17:37787400-37792800	Enhancers	Fetal Thymus	thymus
25	chr17:37787600-37788800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr17:37787600-37788800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr17:37787600-37789000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:37787600-37789000	Enhancers	Primary T cells from cord blood	blood
29	chr17:37787600-37789000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr17:37787600-37789400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr17:37787600-37789600	Enhancers	Primary B cells from cord blood	blood
32	chr17:37787600-37790200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr17:37787600-37791200	Enhancers	Stomach Mucosa	stomach
34	chr17:37787800-37788800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr17:37787800-37788800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr17:37787800-37789000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr17:37787800-37789000	Enhancers	Thymus	Thymus
38	chr17:37787800-37789000	Enhancers	A549	lung
39	chr17:37787800-37789200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr17:37787800-37791200	Enhancers	Brain Angular Gyrus	brain
41	chr17:37787800-37791200	Enhancers	Brain Hippocampus Middle	brain
42	chr17:37788000-37788800	Active TSS	Rectal Smooth Muscle	rectum
43	chr17:37788000-37790600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr17:37788000-37791800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr17:37788000-37792600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr17:37788200-37789000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr17:37788200-37789200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr17:37788200-37789400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr17:37788200-37789400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr17:37788200-37790400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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