Variant report

Variant	rs148871431
Chromosome Location	chr17:17585247-17585248
allele	-/G
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	CTCF	chr17:17585181-17585457	GM19240	blood:	n/a	n/a
2	MYC	chr17:17584481-17586673	K562	blood:	n/a	chr17:17584569-17584579 chr17:17584960-17584970
3	RAD21	chr17:17585148-17585472	GM12878	blood:	n/a	n/a
4	YY1	chr17:17584362-17585269	HepG2	liver:	n/a	chr17:17584928-17584942 chr17:17584965-17584979 chr17:17584970-17584979
5	CTCF	chr17:17585220-17585370	AoAF	blood vessel:	n/a	n/a
6	SIN3AK20	chr17:17584432-17585384	PANC-1	pancreas:	n/a	n/a
7	CTCF	chr17:17585066-17585806	GM12878	blood:	n/a	n/a
8	ZBTB7A	chr17:17584254-17586993	ECC-1	luminal epithelium:	n/a	chr17:17585395-17585404 chr17:17584964-17584973 chr17:17585784-17585792
9	MAX	chr17:17584439-17586906	Hela-S3	cervix:	n/a	chr17:17584460-17584470 chr17:17584569-17584579 chr17:17584960-17584970
10	CCNT2	chr17:17584483-17586765	K562	blood:	n/a	chr17:17586230-17586239 chr17:17586383-17586392 chr17:17586224-17586233 chr17:17585462-17585471
11	CTCF	chr17:17585240-17585390	AG04449	skin:	n/a	n/a
12	TFAP2C	chr17:17584423-17586451	Hela-S3	cervix:	n/a	chr17:17585148-17585163
13	CTCF	chr17:17585070-17585471	GM12891	blood:	n/a	n/a
14	CTCF	chr17:17585240-17585390	HepG2	liver:	n/a	n/a
15	RAD21	chr17:17585172-17585457	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr17:17585240-17585390	GM12874	blood:	n/a	n/a
17	POLR2A	chr17:17584608-17586488	GM12878	blood:	n/a	n/a
18	CTCF	chr17:17585120-17585270	NHEK	skin:	n/a	n/a
19	POLR2A	chr17:17584630-17586357	NB4	blood:	n/a	n/a
20	RAD21	chr17:17584993-17585454	HepG2	liver:	n/a	n/a
21	MAX	chr17:17584171-17586520	HepG2	liver:	n/a	chr17:17584460-17584470 chr17:17584569-17584579 chr17:17584960-17584970
22	CTCF	chr17:17585200-17585350	HepG2	liver:	n/a	n/a
23	CTCF	chr17:17585100-17585455	K562	blood:	n/a	n/a
24	PAX5	chr17:17584398-17586425	GM12892	blood:	n/a	chr17:17585556-17585565 chr17:17585224-17585233 chr17:17584950-17584959 chr17:17585549-17585566 chr17:17585222-17585231
25	CTCF	chr17:17585200-17585350	GM12878	blood:	n/a	n/a
26	TAF1	chr17:17584466-17585415	HepG2	liver:	n/a	n/a
27	POLR2A	chr17:17584466-17585891	HUVEC	blood vessel:	n/a	n/a
28	ZBTB7A	chr17:17584450-17585463	K562	blood:	n/a	chr17:17585395-17585404 chr17:17584964-17584973
29	POLR2A	chr17:17584593-17587213	GM12878	blood:	n/a	n/a
30	POLR2A	chr17:17584546-17586799	GM12892	blood:	n/a	n/a
31	POLR2A	chr17:17585140-17585395	Hela-S3	cervix:	n/a	n/a
32	RCOR1	chr17:17585135-17586405	K562	blood:	n/a	n/a
33	POLR2A	chr17:17585031-17585266	ProgFib	skin:	n/a	n/a
34	REST	chr17:17584150-17587378	H1-neurons	neurons:	n/a	chr17:17586117-17586130 chr17:17585274-17585287 chr17:17585661-17585674 chr17:17584557-17584570 chr17:17584457-17584470 chr17:17586267-17586277
35	POLR2A	chr17:17584547-17586471	MCF-7	breast:	n/a	n/a
36	YY1	chr17:17584431-17585353	GM12892	blood:	n/a	chr17:17584928-17584942 chr17:17584965-17584979 chr17:17584970-17584979
37	CTCF	chr17:17585080-17585370	GM12873	blood:	n/a	n/a
38	POLR2A	chr17:17584557-17586740	GM18951	blood:	n/a	n/a
39	TAF1	chr17:17584980-17585327	K562	blood:	n/a	n/a
40	ZNF143	chr17:17584407-17585396	GM12878	blood:	n/a	chr17:17584569-17584579
41	CEBPD	chr17:17585016-17585277	HepG2	liver:	n/a	n/a
42	POLR2A	chr17:17585174-17586919	GM12891	blood:	n/a	n/a
43	SMC3	chr17:17585170-17585806	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr17:17584520-17586690	K562	blood:	n/a	n/a
45	MAX	chr17:17585164-17586491	MCF-7	breast:	n/a	n/a
46	POLR2A	chr17:17585238-17585499	K562	blood:	n/a	n/a
47	POLR2A	chr17:17584205-17587046	H1-neurons	neurons:	n/a	n/a
48	CTCF	chr17:17585240-17585390	HCPEpiC	choroid plexus:	n/a	n/a
49	POLR2A	chr17:17584525-17586756	GM19099	blood:	n/a	n/a
50	UBTF	chr17:17584618-17585279	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:17583267..17586800-chr17:17714001..17718221,4	K562	blood:
2	chr17:17584474..17587446-chr17:17720269..17722303,2	K562	blood:
3	chr17:17584846..17587033-chr17:17696013..17697749,2	MCF-7	breast:
4	chr17:17581707..17587972-chr17:17684185..17691006,14	MCF-7	breast:
5	chr17:17584228..17586367-chr17:17721759..17723604,3	MCF-7	breast:
6	chr17:17583605..17586318-chr17:17753777..17755939,2	K562	blood:
7	chr17:17583924..17586191-chr17:17941715..17944094,3	K562	blood:
8	chr17:17583519..17585283-chr17:17719170..17722055,2	MCF-7	breast:
9	chr17:17583640..17587401-chr17:17713270..17717474,6	MCF-7	breast:
10	chr17:17584408..17586554-chr17:17725797..17727625,2	K562	blood:
11	chr17:17585064..17587457-chr17:17712160..17714917,4	K562	blood:
12	chr17:17582541..17589441-chr17:17738170..17742091,10	K562	blood:
13	chr17:17584674..17588119-chr17:17738170..17742427,6	K562	blood:
14	chr17:17584810..17586718-chr17:17672245..17674838,2	MCF-7	breast:
15	chr17:17583171..17587600-chr17:17683205..17687633,5	MCF-7	breast:
16	chr17:17580850..17587926-chr17:17737733..17744809,17	MCF-7	breast:
17	chr17:17584818..17588540-chr17:17752581..17756325,4	K562	blood:
18	chr17:17584806..17586554-chr17:17724863..17727625,2	K562	blood:
19	chr17:17583537..17586679-chr17:17711908..17715201,3	MCF-7	breast:
20	chr17:17583643..17586896-chr17:17724231..17729521,8	MCF-7	breast:
21	chr17:17585146..17587854-chr17:17712160..17713787,2	K562	blood:

Variant related genes	Relation type
RAI1	TF binding region
SMCR2	TF binding region
ENSG00000207839	Chromatin interaction
ENSG00000175662	Chromatin interaction
ENSG00000141034	Chromatin interaction
ENSG00000108557	Chromatin interaction
ENSG00000237328	Chromatin interaction
ENSG00000171953	Chromatin interaction
ENSG00000072310	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv869118	chr17:17509896-17599850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv907752	chr17:17569012-17750907	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
8	nsv907753	chr17:17573539-17747289	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS 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	78 gene(s)	inside rSNPs	diseases
10	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
11	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
12	nsv543239	chr17:17580295-17599851	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv907755	chr17:17581184-17610587	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	esv3369275	chr17:17583127-17586825	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	esv3443065	chr17:17583652-17586200	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv827910	chr17:17583901-17586576	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	esv3413919	chr17:17583902-17586600	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17581000-17586400	Weak transcription	Fetal Heart	heart
2	chr17:17583600-17586800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr17:17584000-17586000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr17:17584000-17586600	Active TSS	Hela-S3	cervix
5	chr17:17584200-17586400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr17:17584200-17586400	Active TSS	Brain Anterior Caudate	brain
7	chr17:17584200-17586400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr17:17584200-17586600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr17:17584200-17586600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr17:17584200-17586600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr17:17584200-17586600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr17:17584200-17586600	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr17:17584200-17586600	Active TSS	Rectal Smooth Muscle	rectum
14	chr17:17584200-17587000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr17:17584400-17585800	Active TSS	Colonic Mucosa	Colon
16	chr17:17584400-17586400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:17584400-17586400	Active TSS	Primary monocytes fromperipheralblood	blood
18	chr17:17584400-17586400	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr17:17584400-17586400	Active TSS	Adipose Nuclei	Adipose
20	chr17:17584400-17586600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr17:17584400-17586600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr17:17584400-17586600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr17:17584400-17586600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr17:17584400-17586600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:17584400-17586600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr17:17584400-17586600	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr17:17584400-17586600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:17584400-17586600	Active TSS	Muscle Satellite Cultured Cells	--
29	chr17:17584400-17586600	Active TSS	Brain Angular Gyrus	brain
30	chr17:17584400-17586600	Active TSS	Brain Hippocampus Middle	brain
31	chr17:17584400-17586600	Active TSS	Duodenum Mucosa	Duodenum
32	chr17:17584400-17586600	Active TSS	Fetal Brain Female	brain
33	chr17:17584400-17586600	Active TSS	Lung	lung
34	chr17:17584400-17586600	Active TSS	Pancreas	Pancrea
35	chr17:17584400-17586600	Active TSS	Psoas Muscle	Psoas
36	chr17:17584400-17586600	Active TSS	Right Atrium	heart
37	chr17:17584400-17586600	Active TSS	Right Ventricle	heart
38	chr17:17584400-17586600	Active TSS	HSMMtube	muscle
39	chr17:17584400-17586600	Active TSS	NHDF-Ad	bronchial
40	chr17:17584400-17586600	Active TSS	NHLF	lung
41	chr17:17584400-17586600	Active TSS	Osteobl	bone
42	chr17:17584400-17586800	Active TSS	Aorta	Aorta
43	chr17:17584600-17585400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
44	chr17:17584600-17585400	Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr17:17584600-17585400	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr17:17584600-17585400	Weak transcription	Fetal Lung	lung
47	chr17:17584600-17585600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr17:17584600-17585800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr17:17584600-17585800	Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr17:17584600-17586000	Active TSS	Primary neutrophils fromperipheralblood	blood

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