Variant report

Variant	rs4252652
Chromosome Location	chr17:37882416-37882417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:37878857-37887318	HepG2	liver:	n/a	n/a
2	POLR2A	chr17:37882267-37882441	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr17:37882374-37886907	HepG2	liver:	n/a	n/a
4	POLR2A	chr17:37880838-37884803	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr17:37882349-37887130	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr17:37881289-37882417	GM12892	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37873495..37876430-chr17:37881806..37884578,2	K562	blood:
2	chr17:37862394..37865054-chr17:37882153..37884156,2	K562	blood:
3	chr17:37879758..37882694-chr17:37890867..37892531,2	MCF-7	breast:
4	chr17:37872892..37874995-chr17:37881128..37883306,2	K562	blood:
5	chr17:37879887..37888300-chr17:37891591..37897811,12	K562	blood:
6	chr17:37841867..37845178-chr17:37881477..37884200,3	K562	blood:

No data

Variant related genes	Relation type
MIR4728	TF binding region
ERBB2	TF binding region
ENSG00000161395	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000141738	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12940881	1.00[EUR][1000 genomes]
rs12943456	1.00[EUR][1000 genomes]
rs12944298	1.00[EUR][1000 genomes]
rs12950784	1.00[EUR][1000 genomes]
rs2132141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34910003	1.00[EUR][1000 genomes]
rs35550184	1.00[EUR][1000 genomes]
rs35598597	1.00[EUR][1000 genomes]
rs35821333	1.00[EUR][1000 genomes]
rs4252626	1.00[EUR][1000 genomes]
rs4252646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4252647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4252660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4988981	1.00[EUR][1000 genomes]
rs57059040	1.00[EUR][1000 genomes]
rs58452873	1.00[EUR][1000 genomes]
rs71369773	1.00[EUR][1000 genomes]
rs7219611	1.00[EUR][1000 genomes]
rs7219683	1.00[EUR][1000 genomes]
rs9747666	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv908219	chr17:37880265-37917633	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37858000-37885200	Weak transcription	Fetal Brain Male	brain
2	chr17:37858000-37885600	Weak transcription	Hela-S3	cervix
3	chr17:37858200-37882600	Weak transcription	NHDF-Ad	bronchial
4	chr17:37861400-37883600	Weak transcription	Brain Substantia Nigra	brain
5	chr17:37862200-37885200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr17:37862400-37885400	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr17:37862400-37885600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:37862400-37885600	Strong transcription	Fetal Stomach	stomach
9	chr17:37862400-37885800	Weak transcription	Right Atrium	heart
10	chr17:37862600-37885600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr17:37862800-37883200	Weak transcription	Small Intestine	intestine
12	chr17:37862800-37885600	Strong transcription	Fetal Intestine Large	intestine
13	chr17:37863000-37885600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:37863200-37885600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr17:37863200-37885800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr17:37863600-37883000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:37863600-37885600	Strong transcription	Fetal Intestine Small	intestine
18	chr17:37864800-37883400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:37865000-37884800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr17:37865800-37884200	Weak transcription	Brain Angular Gyrus	brain
21	chr17:37866000-37885000	Weak transcription	Primary B cells from cord blood	blood
22	chr17:37867000-37882800	Weak transcription	Fetal Thymus	thymus
23	chr17:37868400-37882800	Weak transcription	Brain Anterior Caudate	brain
24	chr17:37869200-37883000	Weak transcription	Brain Hippocampus Middle	brain
25	chr17:37872200-37886000	Weak transcription	NH-A	brain
26	chr17:37872800-37885400	Strong transcription	Stomach Smooth Muscle	stomach
27	chr17:37873600-37885200	Strong transcription	Fetal Muscle Leg	muscle
28	chr17:37873600-37885600	Strong transcription	Liver	Liver
29	chr17:37873800-37885400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr17:37875600-37884800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr17:37875800-37883200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr17:37875800-37885400	Strong transcription	Lung	lung
33	chr17:37876200-37885600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr17:37876400-37885600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr17:37876600-37883600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr17:37876800-37885200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr17:37876800-37885800	Weak transcription	HSMM	muscle
38	chr17:37876800-37886000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr17:37877200-37886000	Weak transcription	Psoas Muscle	Psoas
40	chr17:37877800-37885400	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr17:37878400-37885200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr17:37878400-37885600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr17:37878400-37885800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:37879000-37882600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr17:37879000-37886200	Weak transcription	Fetal Kidney	kidney
46	chr17:37879400-37884400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:37879400-37884400	Enhancers	HUVEC	blood vessel
48	chr17:37879400-37885200	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr17:37879400-37885400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr17:37879400-37885400	Strong transcription	HepG2	liver

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