Variant report

Variant	rs16968682
Chromosome Location	chr17:37386899-37386900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr17:37386832-37387721	SH-SY5Y	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37329739..37332413-chr17:37385967..37387931,2	K562	blood:
2	chr17:37385522..37388485-chr17:37394783..37397321,2	K562	blood:
3	chr17:37355062..37368949-chr17:37377464..37389224,25	K562	blood:
4	chr17:37386529..37388946-chr17:37423466..37425656,2	K562	blood:
5	chr17:37358851..37360681-chr17:37383999..37386934,2	K562	blood:
6	chr17:37385765..37388752-chr17:37398596..37401259,2	MCF-7	breast:
7	chr17:37360836..37363197-chr17:37386687..37388864,2	K562	blood:

No data

Variant related genes	Relation type
STAC2	TF binding region
ENSG00000265460	Chromatin interaction
ENSG00000108298	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12950162	0.94[EUR][1000 genomes]
rs1457818	0.81[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap]
rs16968720	0.91[CEU][hapmap]
rs34739816	0.84[EUR][1000 genomes]
rs35137197	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35290672	0.83[EUR][1000 genomes]
rs35421081	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4999757	1.00[GIH][hapmap];0.94[TSI][hapmap];0.80[EUR][1000 genomes]
rs67691062	0.95[EUR][1000 genomes]
rs8080963	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057470	chr17:37135183-37549816	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv543339	chr17:37135183-37549816	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	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
4	nsv833441	chr17:37320807-37476796	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv908203	chr17:37327165-37405657	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv1061084	chr17:37333956-37501598	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
9	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
10	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
11	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37382600-37387800	Weak transcription	Lung	lung
2	chr17:37382800-37387200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:37382800-37387400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:37382800-37387600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:37382800-37387600	Weak transcription	Pancreas	Pancrea
6	chr17:37382800-37388000	Weak transcription	Right Ventricle	heart
7	chr17:37382800-37388200	Weak transcription	Right Atrium	heart
8	chr17:37383200-37387200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr17:37384000-37387600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:37384400-37388200	Weak transcription	Psoas Muscle	Psoas
11	chr17:37385400-37387200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr17:37385600-37387600	Weak transcription	HSMM	muscle
13	chr17:37385600-37388200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr17:37386000-37387000	Weak transcription	Hela-S3	cervix
15	chr17:37386000-37387200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:37386000-37387600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr17:37386000-37387800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:37386000-37388200	Weak transcription	HSMMtube	muscle
19	chr17:37386200-37387200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr17:37386200-37387200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:37386200-37387200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr17:37386200-37387200	Weak transcription	NHDF-Ad	bronchial
23	chr17:37386200-37387400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr17:37386200-37387600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr17:37386200-37388000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr17:37386200-37388000	Weak transcription	A549	lung
27	chr17:37386200-37388000	Weak transcription	HUVEC	blood vessel
28	chr17:37386200-37388000	Weak transcription	NH-A	brain
29	chr17:37386200-37388200	Weak transcription	K562	blood
30	chr17:37386600-37387200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr17:37386800-37387600	Enhancers	Placenta	Placenta
32	chr17:37386800-37388000	Enhancers	Osteobl	bone
33	chr17:37386800-37388600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr17:37386800-37389000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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