Variant report

Variant	rs4252647
Chromosome Location	chr17:37880376-37880377
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:37879654-37880395	K562	blood:	n/a	n/a
2	MAFF	chr17:37880299-37880491	K562	blood:	n/a	n/a
3	POLR2A	chr17:37879623-37880605	K562	blood:	n/a	n/a
4	POLR2A	chr17:37878857-37887318	HepG2	liver:	n/a	n/a
5	EP300	chr17:37879830-37880621	K562	blood:	n/a	n/a
6	GATA2	chr17:37880225-37880703	K562	blood:	n/a	n/a
7	TAF1	chr17:37880225-37880606	K562	blood:	n/a	n/a
8	TBL1XR1	chr17:37879831-37880480	K562	blood:	n/a	n/a
9	TAL1	chr17:37879711-37880666	K562	blood:	n/a	n/a
10	POLR2A	chr17:37879364-37880606	K562	blood:	n/a	n/a
11	MAZ	chr17:37879547-37880457	K562	blood:	n/a	n/a
12	NR2F2	chr17:37879357-37880724	K562	blood:	n/a	n/a
13	POLR2A	chr17:37879695-37880683	K562	blood:	n/a	n/a
14	CEBPD	chr17:37880210-37880676	K562	blood:	n/a	n/a
15	IRF1	chr17:37879513-37880464	K562	blood:	n/a	chr17:37879951-37879965
16	YY1	chr17:37880368-37880563	K562	blood:	n/a	n/a
17	REST	chr17:37880258-37880572	K562	blood:	n/a	chr17:37880271-37880284
18	POLR2A	chr17:37879670-37880403	K562	blood:	n/a	n/a
19	TBL1XR1	chr17:37880000-37880384	K562	blood:	n/a	n/a
20	TEAD4	chr17:37879459-37880584	K562	blood:	n/a	n/a
21	JUND	chr17:37879771-37880533	K562	blood:	n/a	n/a
22	POLR2A	chr17:37879517-37880601	K562	blood:	n/a	n/a
23	POLR2A	chr17:37879665-37880465	K562	blood:	n/a	n/a
24	TEAD4	chr17:37880096-37880643	K562	blood:	n/a	n/a
25	RCOR1	chr17:37879327-37880572	K562	blood:	n/a	n/a
26	ZNF384	chr17:37879904-37880713	K562	blood:	n/a	n/a
27	UBTF	chr17:37879790-37880563	K562	blood:	n/a	n/a
28	ZMIZ1	chr17:37879736-37880480	K562	blood:	n/a	n/a
29	UBTF	chr17:37880370-37880570	K562	blood:	n/a	n/a
30	POLR2A	chr17:37879290-37880620	K562	blood:	n/a	n/a
31	POLR2A	chr17:37879663-37880448	K562	blood:	n/a	n/a
32	IRF1	chr17:37879649-37880500	K562	blood:	n/a	chr17:37879951-37879965
33	CBX3	chr17:37879695-37880611	K562	blood:	n/a	n/a
34	MAX	chr17:37880239-37880634	K562	blood:	n/a	n/a
35	POLR2A	chr17:37878955-37880414	H1-hESC	embryonic stem cell:	n/a	n/a
36	TBP	chr17:37879730-37880386	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37807008..37809974-chr17:37878237..37881849,3	K562	blood:
2	chr17:37823184..37826416-chr17:37879642..37881477,3	K562	blood:
3	chr17:37875103..37877735-chr17:37878952..37881487,4	K562	blood:
4	chr17:37857359..37860774-chr17:37877797..37881019,3	MCF-7	breast:
5	chr17:37879758..37882694-chr17:37890867..37892531,2	MCF-7	breast:
6	chr17:37861723..37863621-chr17:37878570..37880965,2	MCF-7	breast:
7	chr17:37803714..37809656-chr17:37878369..37881849,5	K562	blood:
8	chr17:37821349..37827255-chr17:37878140..37881623,7	K562	blood:
9	chr17:37879887..37888300-chr17:37891591..37897811,12	K562	blood:
10	chr17:37760982..37763537-chr17:37878611..37880800,2	K562	blood:
11	chr17:37878383..37881370-chr17:37906332..37908876,2	K562	blood:
12	chr17:37832659..37835422-chr17:37879679..37882174,3	K562	blood:
13	chr17:37754053..37755569-chr17:37879843..37881401,2	K562	blood:

No data

Variant related genes	Relation type
ERBB2	TF binding region
MIR4728	TF binding region
ENSG00000173991	Chromatin interaction
ENSG00000141738	Chromatin interaction
ENSG00000131748	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000141744	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

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]
rs34904106	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]
rs4252652	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:6 , 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	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
6	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:111 , 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	chr17:37859400-37881000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr17:37861400-37883600	Weak transcription	Brain Substantia Nigra	brain
6	chr17:37862200-37885200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr17:37862400-37885400	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr17:37862400-37885600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:37862400-37885600	Strong transcription	Fetal Stomach	stomach
10	chr17:37862400-37885800	Weak transcription	Right Atrium	heart
11	chr17:37862600-37885600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr17:37862800-37883200	Weak transcription	Small Intestine	intestine
13	chr17:37862800-37885600	Strong transcription	Fetal Intestine Large	intestine
14	chr17:37863000-37885600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:37863200-37885600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:37863200-37885800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:37863600-37883000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:37863600-37885600	Strong transcription	Fetal Intestine Small	intestine
19	chr17:37863800-37881000	Weak transcription	Thymus	Thymus
20	chr17:37863800-37881200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr17:37864600-37882200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr17:37864800-37883400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:37865000-37884800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr17:37865800-37884200	Weak transcription	Brain Angular Gyrus	brain
25	chr17:37866000-37885000	Weak transcription	Primary B cells from cord blood	blood
26	chr17:37867000-37882800	Weak transcription	Fetal Thymus	thymus
27	chr17:37868400-37882800	Weak transcription	Brain Anterior Caudate	brain
28	chr17:37869200-37883000	Weak transcription	Brain Hippocampus Middle	brain
29	chr17:37872200-37886000	Weak transcription	NH-A	brain
30	chr17:37872400-37881000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr17:37872600-37880800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr17:37872600-37881000	Weak transcription	Spleen	Spleen
33	chr17:37872800-37881000	Weak transcription	Brain Germinal Matrix	brain
34	chr17:37872800-37885400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr17:37873600-37881000	Weak transcription	Colon Smooth Muscle	Colon
36	chr17:37873600-37885200	Strong transcription	Fetal Muscle Leg	muscle
37	chr17:37873600-37885600	Strong transcription	Liver	Liver
38	chr17:37873800-37885400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr17:37874800-37880800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr17:37875600-37884800	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr17:37875800-37883200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr17:37875800-37885400	Strong transcription	Lung	lung
43	chr17:37876200-37885600	Strong transcription	Fetal Muscle Trunk	muscle
44	chr17:37876400-37881000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr17:37876400-37885600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr17:37876600-37880800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr17:37876600-37881000	Weak transcription	Adipose Nuclei	Adipose
48	chr17:37876600-37881000	Weak transcription	Ovary	ovary
49	chr17:37876600-37882200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:37876600-37883600	Weak transcription	Brain Inferior Temporal Lobe	brain

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