Variant report

Variant	rs547041600
Chromosome Location	chr17:37869456-37869457
allele	C/T
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	POLR2A	chr17:37869407-37869632	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:37867857..37869588-chr17:37870435..37872270,2	K562	blood:
2	chr17:37869068..37872163-chr17:37881073..37883703,3	K562	blood:
3	chr17:37842892..37845868-chr17:37868766..37870557,2	K562	blood:

Variant related genes	Relation type
ERBB2	TF binding region
ENSG00000141736	Chromatin interaction
ENSG00000161395	Chromatin interaction
ENSG00000265178	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	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
2	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
3	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
4	esv1792029	chr17:37797757-37886460	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv1056234	chr17:37862605-37909988	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv908216	chr17:37863015-37879588	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	nsv908217	chr17:37863708-37879588	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv574993	chr17:37866135-37880978	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	nsv908218	chr17:37866591-37879588	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv1829991	chr17:37869192-37876898	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37857000-37872000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr17:37858000-37885200	Weak transcription	Fetal Brain Male	brain
3	chr17:37858000-37885600	Weak transcription	Hela-S3	cervix
4	chr17:37858200-37882600	Weak transcription	NHDF-Ad	bronchial
5	chr17:37858400-37879600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr17:37859400-37881000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr17:37861400-37883600	Weak transcription	Brain Substantia Nigra	brain
8	chr17:37862200-37877000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
9	chr17:37862200-37885200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr17:37862400-37876800	Strong transcription	HepG2	liver
11	chr17:37862400-37877600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr17:37862400-37878800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr17:37862400-37885400	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr17:37862400-37885600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:37862400-37885600	Strong transcription	Fetal Stomach	stomach
16	chr17:37862400-37885800	Weak transcription	Right Atrium	heart
17	chr17:37862600-37871400	Weak transcription	HSMM	muscle
18	chr17:37862600-37871600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr17:37862600-37885600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr17:37862800-37872000	Weak transcription	NH-A	brain
21	chr17:37862800-37878800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr17:37862800-37883200	Weak transcription	Small Intestine	intestine
23	chr17:37862800-37885600	Strong transcription	Fetal Intestine Large	intestine
24	chr17:37863000-37870000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr17:37863000-37872400	Strong transcription	Stomach Smooth Muscle	stomach
26	chr17:37863000-37873800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr17:37863000-37876600	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr17:37863000-37877000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:37863000-37878800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr17:37863000-37879000	Strong transcription	HSMMtube	muscle
31	chr17:37863000-37879600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr17:37863000-37885600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:37863200-37876800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:37863200-37879400	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr17:37863200-37885600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:37863200-37885800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:37863400-37871800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr17:37863400-37872000	Strong transcription	Left Ventricle	heart
39	chr17:37863400-37872000	Strong transcription	Right Ventricle	heart
40	chr17:37863400-37872000	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr17:37863400-37876200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr17:37863400-37876800	Strong transcription	Osteobl	bone
43	chr17:37863600-37883000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr17:37863600-37885600	Strong transcription	Fetal Intestine Small	intestine
45	chr17:37863800-37872200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr17:37863800-37881000	Weak transcription	Thymus	Thymus
47	chr17:37863800-37881200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr17:37864000-37869800	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr17:37864000-37871200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr17:37864000-37872200	Strong transcription	Duodenum Mucosa	Duodenum

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