Variant report

Variant	rs323866
Chromosome Location	chr3:51975718-51975719
allele	C/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	SIN3AK20	chr3:51975610-51976498	HepG2	liver:	n/a	n/a
2	MAX	chr3:51975537-51976634	H1-hESC	embryonic stem cell:	n/a	chr3:51976408-51976418 chr3:51975571-51975581 chr3:51975918-51975927
3	HCFC1	chr3:51974752-51977446	Hela-S3	cervix:	n/a	n/a
4	RELA	chr3:51975696-51977084	GM18951	blood:	n/a	n/a
5	MAZ	chr3:51975614-51977420	Hela-S3	cervix:	n/a	chr3:51976408-51976418 chr3:51975918-51975927
6	POLR2A	chr3:51975661-51976598	H1-neurons	neurons:	n/a	n/a
7	YY1	chr3:51975698-51975985	A549	lung:	n/a	chr3:51975944-51975955
8	ZNF263	chr3:51975715-51976838	HEK293-T-REx	kidney:	n/a	chr3:51976283-51976292
9	YY1	chr3:51975676-51976464	GM12891	blood:	n/a	chr3:51976233-51976244 chr3:51975944-51975955
10	POLR2A	chr3:51975531-51977401	GM12892	blood:	n/a	n/a
11	MAZ	chr3:51975673-51977373	HepG2	liver:	n/a	chr3:51976408-51976418 chr3:51975918-51975927
12	POLR2A	chr3:51975668-51977272	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr3:51975649-51976642	HL-60	blood:	n/a	n/a
14	CEBPD	chr3:51975623-51975988	HepG2	liver:	n/a	n/a
15	MAX	chr3:51975542-51976773	ECC-1	luminal epithelium:	n/a	chr3:51976408-51976418 chr3:51975571-51975581 chr3:51975918-51975927
16	MAX	chr3:51975393-51977389	Hela-S3	cervix:	n/a	chr3:51976408-51976418 chr3:51975571-51975581 chr3:51975918-51975927
17	TAF1	chr3:51975711-51976522	Hela-S3	cervix:	n/a	n/a
18	RAD21	chr3:51975623-51977399	HCT-116	colon:	n/a	chr3:51976332-51976345 chr3:51976232-51976251 chr3:51976101-51976115 chr3:51976910-51976920
19	USF1	chr3:51975683-51976518	SK-N-SH_RA	brain:	n/a	n/a
20	SP1	chr3:51975708-51976433	GM12878	blood:	n/a	chr3:51976041-51976051 chr3:51975999-51976008 chr3:51976077-51976089 chr3:51975998-51976010 chr3:51976077-51976089 chr3:51976078-51976092 chr3:51975999-51976013 chr3:51976041-51976051 chr3:51976078-51976087 chr3:51976000-51976009 chr3:51976079-51976088 chr3:51975998-51976010 chr3:51976077-51976088
21	MAX	chr3:51975685-51976331	H1-hESC	embryonic stem cell:	n/a	chr3:51975918-51975927
22	MAX	chr3:51975712-51976472	HUVEC	blood vessel:	n/a	chr3:51976408-51976418 chr3:51975918-51975927
23	SP1	chr3:51975673-51976556	HepG2	liver:	n/a	chr3:51976041-51976051 chr3:51975999-51976008 chr3:51976077-51976089 chr3:51975998-51976010 chr3:51976077-51976089 chr3:51976078-51976092 chr3:51975999-51976013 chr3:51976041-51976051 chr3:51976078-51976087 chr3:51976000-51976009 chr3:51976079-51976088 chr3:51975998-51976010 chr3:51976077-51976088
24	USF1	chr3:51975708-51976045	A549	lung:	n/a	n/a
25	POLR2A	chr3:51975658-51976099	U87	brain:	n/a	n/a
26	POLR2A	chr3:51975643-51977304	GM19099	blood:	n/a	n/a
27	RCOR1	chr3:51975699-51976461	HepG2	liver:	n/a	n/a
28	TAF7	chr3:51975676-51976043	H1-hESC	embryonic stem cell:	n/a	n/a
29	MXI1	chr3:51975264-51977367	Hela-S3	cervix:	n/a	n/a
30	RAD21	chr3:51975218-51976865	SK-N-SH	brain:	n/a	chr3:51976332-51976345 chr3:51976232-51976251 chr3:51976101-51976115
31	POLR2A	chr3:51975681-51976574	HEK293	kidney:	n/a	n/a
32	MAX	chr3:51975529-51977328	A549	lung:	n/a	chr3:51976408-51976418 chr3:51975571-51975581 chr3:51975918-51975927
33	GABPA	chr3:51975705-51976700	SK-N-SH	brain:	n/a	chr3:51976163-51976177
34	POLR2A	chr3:51975685-51976081	GM12892	blood:	n/a	n/a
35	POLR2A	chr3:51975693-51976077	HepG2	liver:	n/a	n/a
36	POLR2A	chr3:51975679-51977274	SK-N-SH	brain:	n/a	n/a
37	TCF12	chr3:51975605-51976599	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr3:51975538-51977688	GM12878	blood:	n/a	n/a
39	MAX	chr3:51975687-51976560	K562	blood:	n/a	chr3:51976408-51976418 chr3:51975918-51975927
40	TCF7L2	chr3:51974744-51976522	Hela-S3	cervix:	n/a	chr3:51974830-51974839
41	MAZ	chr3:51975699-51977270	GM12878	blood:	n/a	chr3:51976408-51976418 chr3:51975918-51975927
42	TAF1	chr3:51975683-51976052	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr3:51975683-51977607	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr3:51975507-51976504	H1-hESC	embryonic stem cell:	n/a	n/a
45	MYC	chr3:51975670-51976642	MCF-7	breast:	n/a	chr3:51976408-51976418 chr3:51975918-51975927
46	HMGN3	chr3:51975595-51976772	K562	blood:	n/a	n/a
47	POLR2A	chr3:51975660-51976587	PANC-1	pancreas:	n/a	n/a
48	POLR2A	chr3:51975641-51976059	K562	blood:	n/a	n/a
49	MYC	chr3:51975669-51977304	Hela-S3	cervix:	n/a	chr3:51976408-51976418 chr3:51975918-51975927
50	MAX	chr3:51975543-51976772	A549	lung:	n/a	chr3:51976408-51976418 chr3:51975571-51975581 chr3:51975918-51975927

No.	Distal block	Cell Line	Cell type
1	chr3:51975062..51978431-chr3:52015984..52020263,5	K562	blood:
2	chr3:51975614..51976314-chr5:43120889..43121451,2	Hela-S3	cervix:
3	chr3:51974812..51978768-chr3:52006594..52010604,6	MCF-7	breast:
4	chr3:51974147..51980389-chr3:52024451..52030996,12	K562	blood:
5	chr3:51974226..51977659-chr3:52020694..52024166,4	K562	blood:
6	chr3:51974734..51977966-chr3:52006518..52010028,6	MCF-7	breast:
7	chr3:51974644..51978429-chr3:52029121..52032128,7	MCF-7	breast:
8	chr3:51862209..51864973-chr3:51975409..51978321,2	MCF-7	breast:
9	chr3:51972961..51975805-chr3:51984917..51986970,2	MCF-7	breast:
10	chr3:51975412..51976037-chr8:145013507..145014372,2	Hela-S3	cervix:
11	chr3:51972287..51978873-chr3:51998179..52003667,9	MCF-7	breast:
12	chr3:51974263..51976425-chr3:51999030..52003412,4	K562	blood:
13	chr3:51974725..51977771-chr3:52005335..52009465,8	K562	blood:
14	chr3:51974673..51977845-chr3:51999030..52003727,6	K562	blood:
15	chr3:51974263..51977386-chr3:52088681..52091436,3	K562	blood:
16	chr3:51974392..51977854-chr3:52027120..52030701,3	MCF-7	breast:
17	chr3:51974179..51978718-chr3:52004198..52010829,11	K562	blood:
18	chr3:51974624..51978885-chr3:52015984..52028227,23	K562	blood:
19	chr3:51975678..51978117-chr3:52018353..52021936,3	MCF-7	breast:

Variant related genes	Relation type
PARP3	TF binding region
ENSG00000162244	Chromatin interaction
ENSG00000090097	Chromatin interaction
ENSG00000114786	Chromatin interaction
ENSG00000114779	Chromatin interaction
ENSG00000243989	Chromatin interaction
ENSG00000229972	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000248487	Chromatin interaction
ENSG00000164086	Chromatin interaction
ENSG00000178209	Chromatin interaction
ENSG00000272762	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11916396	1.00[ASN][1000 genomes]
rs2015691	1.00[ASN][1000 genomes]
rs323858	1.00[ASN][1000 genomes]
rs323861	1.00[ASN][1000 genomes]
rs323862	1.00[ASN][1000 genomes]
rs323865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs323867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs323868	0.81[AFR][1000 genomes]
rs323879	0.83[AFR][1000 genomes]
rs323890	1.00[ASN][1000 genomes]
rs323892	1.00[ASN][1000 genomes]
rs323897	1.00[ASN][1000 genomes]
rs379462	1.00[ASN][1000 genomes]
rs380788	1.00[ASN][1000 genomes]
rs403620	1.00[ASN][1000 genomes]
rs404527	1.00[ASN][1000 genomes]
rs433823	1.00[ASN][1000 genomes]
rs72964028	1.00[ASN][1000 genomes]
rs72964029	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012847	chr3:51811062-52056727	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
3	nsv536571	chr3:51811062-52056727	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv1003453	chr3:51962081-52099441	Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv590280	chr3:51967439-51978327	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
8	nsv1003581	chr3:51973395-52108645	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 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	chr3:51974400-51976000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:51974400-51976400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:51974400-51976400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr3:51974400-51976400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr3:51974400-51976400	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr3:51974600-51975800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr3:51974600-51975800	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr3:51974600-51976000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:51974600-51976600	Active TSS	A549	lung
10	chr3:51974600-51976800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr3:51974800-51975800	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr3:51974800-51975800	Flanking Active TSS	HUVEC	blood vessel
13	chr3:51974800-51976200	Active TSS	NHLF	lung
14	chr3:51974800-51976600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr3:51974800-51976600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:51974800-51976600	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr3:51975000-51975800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr3:51975000-51975800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr3:51975000-51975800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:51975000-51975800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:51975000-51975800	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr3:51975000-51975800	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr3:51975000-51975800	Flanking Active TSS	Fetal Thymus	thymus
24	chr3:51975000-51975800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr3:51975000-51975800	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr3:51975000-51976000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr3:51975000-51976400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr3:51975000-51976400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:51975000-51976400	Active TSS	GM12878-XiMat	blood
30	chr3:51975000-51976400	Active TSS	NHDF-Ad	bronchial
31	chr3:51975000-51976600	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr3:51975000-51976600	Active TSS	Lung	lung
33	chr3:51975000-51976800	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr3:51975000-51976800	Active TSS	Small Intestine	intestine
35	chr3:51975200-51975800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr3:51975200-51975800	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr3:51975200-51975800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr3:51975200-51975800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:51975200-51975800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr3:51975200-51975800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:51975200-51975800	Flanking Active TSS	Liver	Liver
42	chr3:51975200-51975800	Flanking Active TSS	Placenta	Placenta
43	chr3:51975200-51975800	Flanking Active TSS	Thymus	Thymus
44	chr3:51975200-51976000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:51975200-51976000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:51975200-51976200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr3:51975200-51976200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:51975200-51976200	Active TSS	HMEC	breast
49	chr3:51975200-51976400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:51975200-51976400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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