Variant report

Variant	rs9532
Chromosome Location	chr17:37792613-37792614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 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	POLR2A	chr17:37792504-37794088	HUVEC	blood vessel:	n/a	n/a
3	HCFC1	chr17:37792564-37794281	Hela-S3	cervix:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37792539..37793245-chr19:13263539..13264259,2	Hela-S3	cervix:
2	chr17:37792116..37794246-chr17:37816401..37819185,2	MCF-7	breast:
3	chr17:37792417..37794971-chr17:37842551..37845979,3	MCF-7	breast:
4	chr17:37785506..37788397-chr17:37788916..37793369,4	K562	blood:
5	chr17:37791351..37794497-chr17:37895466..37898659,4	MCF-7	breast:
6	chr17:37790905..37794856-chr17:37820000..37822270,4	K562	blood:
7	chr17:37792000..37794042-chr17:37806624..37808948,2	MCF-7	breast:
8	chr17:37791520..37796368-chr17:37822308..37826994,8	K562	blood:
9	chr17:37762236..37764592-chr17:37791810..37794599,2	K562	blood:

No data

Variant related genes	Relation type
STARD3	TF binding region
ENSG00000173991	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000141744	Chromatin interaction
ENSG00000161395	Chromatin interaction
ENSG00000131771	Chromatin interaction
ENSG00000131748	Chromatin interaction
ENSG00000171532	Chromatin interaction
ENSG00000141738	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16965199	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28498326	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35797948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5638	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7226073	1.00[CEU][hapmap]
rs9896679	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9908580	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9913626	1.00[CEU][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs998480	1.00[CEU][hapmap]

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:120 , 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	chr17:37787400-37792800	Enhancers	Fetal Thymus	thymus
5	chr17:37788200-37793000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr17:37788200-37793400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr17:37788400-37793000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr17:37788600-37792800	Weak transcription	Fetal Brain Female	brain
9	chr17:37788800-37792800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:37789400-37793000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr17:37790000-37793200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr17:37790400-37792800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr17:37790400-37792800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr17:37790400-37792800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr17:37790400-37793400	Weak transcription	Small Intestine	intestine
16	chr17:37790600-37792800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr17:37790600-37792800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:37790600-37792800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr17:37790600-37793000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr17:37790800-37792800	Enhancers	Primary B cells from cord blood	blood
21	chr17:37790800-37792800	Enhancers	Primary hematopoietic stem cells	blood
22	chr17:37791000-37792800	Enhancers	Fetal Muscle Trunk	muscle
23	chr17:37791000-37793000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr17:37791600-37792800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr17:37791600-37792800	Enhancers	A549	lung
26	chr17:37791600-37793000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr17:37791600-37793000	Enhancers	Placenta	Placenta
28	chr17:37791800-37792800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr17:37791800-37792800	Enhancers	Fetal Muscle Leg	muscle
30	chr17:37791800-37793000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr17:37791800-37793000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr17:37791800-37793000	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr17:37791800-37793200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr17:37792000-37792800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr17:37792000-37792800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr17:37792000-37792800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:37792000-37793200	Enhancers	Gastric	stomach
38	chr17:37792000-37793200	Enhancers	Spleen	Spleen
39	chr17:37792200-37792800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr17:37792200-37792800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr17:37792200-37792800	Enhancers	Lung	lung
42	chr17:37792200-37793200	Flanking Active TSS	Dnd41	blood
43	chr17:37792400-37792800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:37792400-37792800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr17:37792400-37792800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr17:37792400-37792800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr17:37792400-37792800	Enhancers	Liver	Liver
48	chr17:37792400-37792800	Genic enhancers	Fetal Intestine Small	intestine
49	chr17:37792400-37792800	Enhancers	Fetal Stomach	stomach
50	chr17:37792400-37792800	Enhancers	Ovary	ovary

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