Variant report

Variant	rs17367421
Chromosome Location	chr1:155287241-155287242
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155285762-155295040	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:155286657-155289073	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:155287002-155287398	U87	brain:	n/a	n/a
4	POLR2A	chr1:155287215-155287460	HL-60	blood:	n/a	n/a
5	POLR2A	chr1:155285992-155291727	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:155286497-155292073	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr1:155285720-155292259	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr1:155287155-155287429	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:155286517-155292132	K562	blood:	n/a	n/a
10	POLR2A	chr1:155286610-155292157	K562	blood:	n/a	n/a
11	POLR2A	chr1:155286285-155287426	MCF-7	breast:	n/a	n/a
12	POLR2A	chr1:155286577-155287241	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr1:155286649-155291520	GM12891	blood:	n/a	n/a
14	POLR2A	chr1:155287127-155287385	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155286673..155288850-chr1:155291962..155294625,5	K562	blood:
2	chr1:155246729..155248789-chr1:155285548..155288546,2	K562	blood:
3	chr1:155247984..155249745-chr1:155285662..155287694,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASH1L-1	chr1:155286654-155287796	ENSG00000225855.2

No data

Variant related genes	Relation type
RUSC1	TF binding region
FDPS	TF binding region
ENSG00000176444	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000143630	Chromatin interaction
ENSG00000160753	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10752610	1.00[ASN][1000 genomes]
rs10908468	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs17377506	1.00[ASN][1000 genomes]
rs4971050	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4971070	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4971071	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4971083	0.82[CEU][hapmap]
rs4971086	1.00[ASN][1000 genomes]
rs4971087	1.00[ASN][1000 genomes]
rs7340058	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription 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	452 gene(s)	inside rSNPs	diseases
2	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
3	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
4	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
5	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
6	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
8	nsv946413	chr1:155286949-155296660	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155279200-155290400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:155279800-155290400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:155280000-155287800	Weak transcription	Brain Angular Gyrus	brain
4	chr1:155280000-155290000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:155280000-155290200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:155280000-155290200	Weak transcription	Right Atrium	heart
7	chr1:155280000-155290400	Weak transcription	Psoas Muscle	Psoas
8	chr1:155280200-155288200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:155280200-155289800	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr1:155280200-155289800	Strong transcription	Fetal Stomach	stomach
11	chr1:155280200-155290000	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:155280200-155290400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:155280200-155290400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:155280600-155289800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:155280600-155289800	Weak transcription	Fetal Brain Male	brain
16	chr1:155280600-155290200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:155280600-155290200	Weak transcription	Brain Substantia Nigra	brain
18	chr1:155280800-155290000	Strong transcription	Fetal Thymus	thymus
19	chr1:155280800-155290600	Weak transcription	Small Intestine	intestine
20	chr1:155281200-155289200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:155281400-155288000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:155281400-155290600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:155281600-155287800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:155281600-155290200	Weak transcription	Stomach Mucosa	stomach
25	chr1:155281600-155290600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:155281800-155290000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:155282000-155289600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:155282200-155287600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:155282200-155287800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:155282200-155289800	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:155282200-155290200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:155282200-155290600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:155282400-155289000	Strong transcription	HUVEC	blood vessel
34	chr1:155282400-155289200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:155282600-155288200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:155282800-155289800	Strong transcription	Fetal Brain Female	brain
37	chr1:155283000-155288800	Strong transcription	HMEC	breast
38	chr1:155283400-155287800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:155283400-155288000	Weak transcription	Fetal Kidney	kidney
40	chr1:155283400-155288400	Weak transcription	Fetal Lung	lung
41	chr1:155283400-155290200	Weak transcription	Primary B cells from cord blood	blood
42	chr1:155283600-155287800	Weak transcription	Gastric	stomach
43	chr1:155283600-155288000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:155283600-155289800	Weak transcription	Fetal Heart	heart
45	chr1:155283600-155289800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:155283600-155290000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:155283600-155290000	Strong transcription	HSMMtube	muscle
48	chr1:155283600-155290400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr1:155284000-155289200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr1:155284400-155287400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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