Variant report

Variant	rs34731486
Chromosome Location	chr9:110046227-110046228
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:375)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr9:110044837-110046592	IMR90	lung:	n/a	chr9:110045865-110045879 chr9:110046028-110046042
2	MAX	chr9:110044929-110046766	MCF-7	breast:	n/a	chr9:110045533-110045542
3	MAX	chr9:110045096-110046455	K562	blood:	n/a	chr9:110045533-110045542
4	POLR2A	chr9:110045429-110046359	A549	lung:	n/a	n/a
5	REST	chr9:110044598-110046652	H1-neurons	neurons:	n/a	chr9:110045722-110045735 chr9:110045867-110045877 chr9:110046104-110046117 chr9:110045853-110045866 chr9:110045127-110045137
6	CTCF	chr9:110046100-110046250	AoAF	blood vessel:	n/a	n/a
7	HDAC2	chr9:110046073-110046451	K562	blood:	n/a	chr9:110046282-110046290 chr9:110046430-110046444 chr9:110046427-110046441
8	SIN3AK20	chr9:110046049-110046520	H1-hESC	embryonic stem cell:	n/a	n/a
9	BHLHE40	chr9:110044951-110046487	K562	blood:	n/a	chr9:110045121-110045137 chr9:110045877-110045893 chr9:110045295-110045311 chr9:110045867-110045883
10	POLR2A	chr9:110044925-110046470	K562	blood:	n/a	n/a
11	POU2F2	chr9:110046022-110046629	GM12891	blood:	n/a	n/a
12	SMARCB1	chr9:110044805-110046554	Hela-S3	cervix:	n/a	n/a
13	TCF12	chr9:110045964-110046501	GM12878	blood:	n/a	n/a
14	MYC	chr9:110046096-110046473	HUVEC	blood vessel:	n/a	n/a
15	YY1	chr9:110045010-110046330	K562	blood:	n/a	chr9:110045869-110045883 chr9:110045426-110045435 chr9:110046107-110046121 chr9:110045556-110045578 chr9:110045568-110045578
16	MAX	chr9:110046195-110046613	H1-hESC	embryonic stem cell:	n/a	n/a
17	RELA	chr9:110044841-110047095	GM18505	blood:	n/a	n/a
18	POLR2A	chr9:110044942-110046689	K562	blood:	n/a	n/a
19	BHLHE40	chr9:110045132-110046686	GM12878	blood:	n/a	chr9:110045877-110045893 chr9:110045295-110045311 chr9:110045867-110045883
20	BCL11A	chr9:110046128-110046407	GM12878	blood:	n/a	n/a
21	RCOR1	chr9:110046124-110046625	HepG2	liver:	n/a	n/a
22	SIN3A	chr9:110045979-110047025	GM12878	blood:	n/a	n/a
23	MYC	chr9:110044990-110046534	K562	blood:	n/a	chr9:110045533-110045542
24	TAL1	chr9:110046181-110046658	K562	blood:	n/a	n/a
25	SIN3AK20	chr9:110046097-110046753	SK-N-SH	brain:	n/a	n/a
26	TAF1	chr9:110046055-110046517	A549	lung:	n/a	n/a
27	MAZ	chr9:110044770-110046595	GM12878	blood:	n/a	chr9:110045533-110045542
28	TAF1	chr9:110046183-110046387	SK-N-SH	brain:	n/a	n/a
29	GTF2F1	chr9:110046216-110046703	Hela-S3	cervix:	n/a	n/a
30	RAD21	chr9:110046010-110046551	MCF-7	breast:	n/a	chr9:110046028-110046042
31	EP300	chr9:110046198-110046491	SK-N-SH_RA	brain:	n/a	n/a
32	POLR2A	chr9:110045996-110046726	U87	brain:	n/a	n/a
33	POLR2A	chr9:110046028-110046502	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr9:110044896-110046471	GM12892	blood:	n/a	n/a
35	POLR2A	chr9:110044983-110046483	K562	blood:	n/a	n/a
36	POLR2A	chr9:110044989-110046613	MCF-7	breast:	n/a	n/a
37	TBP	chr9:110044960-110046606	HepG2	liver:	n/a	n/a
38	CTCF	chr9:110046160-110046310	AG04449	skin:	n/a	n/a
39	TEAD4	chr9:110046052-110046681	K562	blood:	n/a	n/a
40	MYC	chr9:110046077-110046428	MCF-7	breast:	n/a	n/a
41	STAT1	chr9:110046016-110046402	GM12878	blood:	n/a	n/a
42	TBP	chr9:110044699-110046562	K562	blood:	n/a	n/a
43	POLR2A	chr9:110044685-110046710	K562	blood:	n/a	n/a
44	RFX5	chr9:110046061-110046685	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr9:110044978-110046393	A549	lung:	n/a	n/a
46	SIX5	chr9:110046200-110046672	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr9:110044963-110046504	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr9:110044919-110046400	Gliobla	brain:	n/a	n/a
49	FOXM1	chr9:110046002-110046500	GM12878	blood:	n/a	n/a
50	GATA1	chr9:110044393-110046235	PBDE	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:110046224-110046274	NHDF-neo	bronchial:	n/a
2	chr9:110046224-110046274	IMR90	lung:	fetal
3	chr9:110046224-110046274	H1-hESC	embryonic stem cell:	embryo
4	chr9:110046224-110046274	PFSK-1	brain:	n/a
5	chr9:110046224-110046274	ProgFib	skin:	n/a
6	chr9:110046224-110046274	HUVEC	blood vessel:	n/a
7	chr9:110046224-110046274	AG04449	skin:	fetal
8	chr9:110046224-110046274	AG09309	skin:	n/a
9	chr9:110046224-110046274	RPTEC	kidney:	n/a
10	chr9:110046224-110046274	HIPEpiC	eye:	n/a
11	chr9:110046224-110046274	GM12892	blood:	n/a
12	chr9:110046224-110046274	HMEC	breast:	n/a
13	chr9:110046224-110046274	Jurkat	blood:	n/a
14	chr9:110046224-110046274	T-47D	breast:	n/a
15	chr9:110046224-110046274	Hepatocyte	liver:	n/a
16	chr9:110046224-110046274	SK-N-SH_RA	brain:	n/a
17	chr9:110046224-110046274	NB4	blood:	n/a
18	chr9:110046224-110046274	GM12891	blood:	n/a
19	chr9:110046224-110046274	HCM	heart:	n/a
20	chr9:110046224-110046274	HAEpiC	amniotic membrane:	n/a
21	chr9:110046224-110046274	HL-60	blood:	n/a
22	chr9:110046224-110046274	SAEC	small airway:	n/a
23	chr9:110046224-110046274	AG09319	gingival:	n/a
24	chr9:110046224-110046274	HEEpiC	esophagus:	n/a
25	chr9:110046224-110046274	HNPCEpiC	eye:	n/a
26	chr9:110046224-110046274	Caco-2	colon:	n/a
27	chr9:110046224-110046274	SK-N-MC	brain:	n/a
28	chr9:110046224-110046274	GM19239	blood:	n/a
29	chr9:110046224-110046274	PrEC	prostate:	n/a
30	chr9:110046224-110046274	HRE	kidney:	n/a
31	chr9:110046224-110046274	Hela-S3	cervix:	n/a
32	chr9:110046224-110046274	HepG2	liver:	n/a
33	chr9:110046224-110046274	AoSMC	blood vessel:	n/a
34	chr9:110046224-110046274	SKMC	muscle:	n/a
35	chr9:110046224-110046274	HRPEpiC	eye:	n/a
36	chr9:110046224-110046274	HCPEpiC	choroid plexus:	n/a
37	chr9:110046224-110046274	HEK293	kidney:	embryo
38	chr9:110046224-110046274	BE2_C	brain:	n/a
39	chr9:110046224-110046274	NH-A	brain:	n/a
40	chr9:110046224-110046274	NT2-D1	testis:	n/a
41	chr9:110046224-110046274	SK-N-SH	brain:	n/a
42	chr9:110046224-110046274	GM06990	blood:	n/a
43	chr9:110046224-110046274	ECC-1	luminal epithelium:	n/a
44	chr9:110046224-110046274	CMK	blood:	n/a
45	chr9:110046224-110046274	BJ	skin:	n/a
46	chr9:110046224-110046274	MCF10A-Er-Src	breast:	n/a
47	chr9:110046224-110046274	AG10803	skin:	n/a
48	chr9:110046224-110046274	ovcar-3	ovarian:	n/a
49	chr9:110046224-110046274	HPAEpiC	pulmonary alveolar:	n/a
50	chr9:110046224-110046274	HCF	heart:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:110044300..110048942-chr9:110067094..110074281,11	MCF-7	breast:
2	chr9:110044573..110046524-chrX:150150957..150152759,2	MCF-7	breast:
3	chr6:27860628..27861288-chr9:110045415..110046393,2	Hela-S3	cervix:
4	chr9:110045521..110048079-chr9:110251760..110253947,2	MCF-7	breast:
5	chr9:110045113..110046713-chr9:110046851..110048527,3	MCF-7	breast:
6	chr9:110044689..110046322-chr9:110067933..110070602,2	MCF-7	breast:
7	chr12:54673289..54673950-chr9:110045597..110046480,2	Hela-S3	cervix:
8	chr10:16478731..16479259-chr9:110045655..110046403,2	Hela-S3	cervix:
9	chr17:56738323..56740813-chr9:110045478..110047129,2	MCF-7	breast:

No data

Variant related genes	Relation type
RAD23B	TF binding region
RAD23B	CpG island
ENSG00000165983	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000119318	Chromatin interaction
ENSG00000029993	Chromatin interaction
ENSG00000136826	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000266826	Chromatin interaction
ENSG00000094916	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10868	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11573607	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11573662	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11573665	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11573703	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11573711	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11573721	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13287251	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13298939	0.81[EUR][1000 genomes]
rs1805331	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34593991	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34745099	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35218924	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35494237	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35626978	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35865856	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35967129	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36089467	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56161943	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56377721	0.81[EUR][1000 genomes]
rs66495692	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66539130	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67630898	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71495992	0.81[AMR][1000 genomes];0.84[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	nsv869351	chr9:109593212-110191170	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv530948	chr9:109760752-110413602	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv831682	chr9:109937181-110075453	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv893698	chr9:109998563-110052660	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv508560	chr9:110006490-110060539	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr9:110044200-110047600	Active TSS	Thymus	Thymus
2	chr9:110044200-110048200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr9:110044400-110047400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr9:110044400-110047600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:110044400-110047800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr9:110044400-110048000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr9:110044400-110048200	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr9:110044400-110048200	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr9:110044400-110048400	Active TSS	Fetal Kidney	kidney
10	chr9:110044400-110048800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr9:110044600-110047200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:110044600-110047800	Bivalent/Poised TSS	HepG2	liver
13	chr9:110044600-110048000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:110044600-110048200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr9:110044600-110048200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:110044600-110048200	Active TSS	A549	lung
17	chr9:110044600-110048400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr9:110044600-110048400	Active TSS	GM12878-XiMat	blood
19	chr9:110044600-110049000	Active TSS	Right Ventricle	heart
20	chr9:110044800-110046600	Active TSS	Brain Substantia Nigra	brain
21	chr9:110044800-110046600	Active TSS	Rectal Smooth Muscle	rectum
22	chr9:110044800-110046800	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr9:110044800-110046800	Active TSS	Esophagus	oesophagus
24	chr9:110044800-110046800	Active TSS	Gastric	stomach
25	chr9:110044800-110046800	Active TSS	Pancreas	Pancrea
26	chr9:110044800-110047000	Active TSS	Brain Anterior Caudate	brain
27	chr9:110044800-110047000	Active TSS	Small Intestine	intestine
28	chr9:110044800-110047200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:110044800-110047200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:110044800-110047200	Active TSS	Lung	lung
31	chr9:110044800-110047200	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr9:110044800-110047600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:110044800-110047600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:110044800-110047600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr9:110044800-110047600	Active TSS	Fetal Intestine Small	intestine
36	chr9:110044800-110047600	Active TSS	Stomach Mucosa	stomach
37	chr9:110044800-110047800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:110044800-110048000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:110044800-110048000	Active TSS	Aorta	Aorta
40	chr9:110044800-110048200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:110044800-110048200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:110044800-110048200	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr9:110044800-110048200	Active TSS	Fetal Brain Female	brain
44	chr9:110044800-110048200	Active TSS	Fetal Lung	lung
45	chr9:110044800-110048400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr9:110044800-110048400	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr9:110044800-110048400	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr9:110044800-110048400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:110044800-110048400	Active TSS	Left Ventricle	heart
50	chr9:110044800-110048400	Active TSS	K562	blood

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