Variant report

Variant	rs734645
Chromosome Location	chr17:37792293-37792294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:37791765-37794352	HepG2	liver:	n/a	n/a
2	SPI1	chr17:37791874-37792360	HL-60	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37792116..37794246-chr17:37816401..37819185,2	MCF-7	breast:
2	chr17:37785506..37788397-chr17:37788916..37793369,4	K562	blood:
3	chr17:37791351..37794497-chr17:37895466..37898659,4	MCF-7	breast:
4	chr17:37790905..37794856-chr17:37820000..37822270,4	K562	blood:
5	chr17:37792000..37794042-chr17:37806624..37808948,2	MCF-7	breast:
6	chr17:37791520..37796368-chr17:37822308..37826994,8	K562	blood:
7	chr17:37762236..37764592-chr17:37791810..37794599,2	K562	blood:
8	chr17:37789315..37792571-chr17:37910228..37913282,4	K562	blood:

No data

Variant related genes	Relation type
STARD3	TF binding region
ENSG00000171532	Chromatin interaction
ENSG00000131771	Chromatin interaction
ENSG00000141744	Chromatin interaction
ENSG00000131748	Chromatin interaction
ENSG00000141738	Chromatin interaction
ENSG00000173991	Chromatin interaction

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

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

rs_ID	r²[population]
rs12103674	0.95[AFR][1000 genomes]
rs33938012	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33978574	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34695955	0.97[AFR][1000 genomes]
rs66482609	0.83[AFR][1000 genomes]
rs9899653	0.85[AFR][1000 genomes]
rs9907501	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
12	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
13	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37784600-37792800	Weak transcription	Right Atrium	heart
2	chr17:37785200-37792800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr17:37785200-37792800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:37785400-37792600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:37785800-37792400	Weak transcription	Fetal Lung	lung
6	chr17:37787000-37792600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr17:37787400-37792800	Enhancers	Fetal Thymus	thymus
8	chr17:37788000-37792600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr17:37788200-37792400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:37788200-37792600	Enhancers	Brain Substantia Nigra	brain
11	chr17:37788200-37792600	Weak transcription	HMEC	breast
12	chr17:37788200-37793000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr17:37788200-37793400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr17:37788400-37792600	Weak transcription	NHEK	skin
15	chr17:37788400-37793000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:37788600-37792800	Weak transcription	Fetal Brain Female	brain
17	chr17:37788800-37792800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:37789400-37793000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr17:37789600-37792400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr17:37789800-37792600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:37789800-37792600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr17:37789800-37792600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr17:37790000-37792600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr17:37790000-37792600	Genic enhancers	Rectal Mucosa Donor 29	rectum
25	chr17:37790000-37793200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:37790200-37792600	Enhancers	Primary B cells from peripheral blood	blood
27	chr17:37790400-37792400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:37790400-37792600	Genic enhancers	Rectal Mucosa Donor 31	rectum
29	chr17:37790400-37792600	Enhancers	HepG2	liver
30	chr17:37790400-37792800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr17:37790400-37792800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr17:37790400-37792800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr17:37790400-37793400	Weak transcription	Small Intestine	intestine
34	chr17:37790600-37792400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr17:37790600-37792600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr17:37790600-37792600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr17:37790600-37792600	Genic enhancers	Brain Anterior Caudate	brain
38	chr17:37790600-37792600	Enhancers	K562	blood
39	chr17:37790600-37792800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr17:37790600-37792800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr17:37790600-37792800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr17:37790600-37793000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr17:37790800-37792400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr17:37790800-37792400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr17:37790800-37792800	Enhancers	Primary B cells from cord blood	blood
46	chr17:37790800-37792800	Enhancers	Primary hematopoietic stem cells	blood
47	chr17:37791000-37792400	Genic enhancers	Colonic Mucosa	Colon
48	chr17:37791000-37792400	Weak transcription	Fetal Brain Male	brain
49	chr17:37791000-37792400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr17:37791000-37792800	Enhancers	Fetal Muscle Trunk	muscle

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