Variant report

Variant	rs36030019
Chromosome Location	chr9:96928096-96928097
allele	A/T
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	USF1	chr9:96927820-96928706	K562	blood:	n/a	chr9:96928375-96928391 chr9:96928224-96928235
2	POLR2A	chr9:96927900-96929936	GM19099	blood:	n/a	n/a
3	CREB1	chr9:96927960-96929720	H1-hESC	embryonic stem cell:	n/a	chr9:96929116-96929129
4	POLR2A	chr9:96927959-96929554	ProgFib	skin:	n/a	n/a
5	POLR2A	chr9:96927828-96929895	GM12878	blood:	n/a	n/a
6	POLR2A	chr9:96927963-96929054	HCT-116	colon:	n/a	n/a
7	TAF1	chr9:96928005-96929011	HepG2	liver:	n/a	n/a
8	TAF1	chr9:96927892-96929724	A549	lung:	n/a	n/a
9	MAX	chr9:96926954-96929565	NB4	blood:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
10	SP1	chr9:96927932-96928691	HepG2	liver:	n/a	chr9:96928197-96928206 chr9:96928195-96928207 chr9:96928196-96928205 chr9:96928196-96928205 chr9:96928195-96928207
11	PBX3	chr9:96927837-96929611	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr9:96927972-96928309	HepG2	liver:	n/a	n/a
13	ELF1	chr9:96927765-96929614	MCF-7	breast:	n/a	chr9:96928724-96928733 chr9:96928596-96928605 chr9:96928678-96928687 chr9:96928494-96928506
14	RFX5	chr9:96928006-96929861	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr9:96927977-96929591	HCT-116	colon:	n/a	n/a
16	TEAD4	chr9:96928017-96928472	H1-hESC	embryonic stem cell:	n/a	n/a
17	FOXA1	chr9:96928014-96928320	T-47D	breast:	n/a	n/a
18	ELF1	chr9:96927762-96928530	MCF-7	breast:	n/a	chr9:96928494-96928506
19	POLR2A	chr9:96927948-96929737	Hela-S3	cervix:	n/a	n/a
20	SETDB1	chr9:96927991-96929333	K562	blood:	n/a	n/a
21	POLR2A	chr9:96927899-96929674	NB4	blood:	n/a	n/a
22	ELK1	chr9:96928026-96929611	Hela-S3	cervix:	n/a	n/a
23	RCOR1	chr9:96927755-96929603	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr9:96927852-96929673	GM12892	blood:	n/a	n/a
25	POLR2A	chr9:96927953-96929619	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr9:96927952-96930321	MCF10A-Er-Src	breast:	n/a	n/a
27	ELF1	chr9:96927821-96929612	GM12878	blood:	n/a	chr9:96928724-96928733 chr9:96928596-96928605 chr9:96928678-96928687 chr9:96928494-96928506
28	POLR2A	chr9:96927871-96929884	U87	brain:	n/a	n/a
29	REST	chr9:96927926-96928250	Hela-S3	cervix:	n/a	chr9:96928201-96928214 chr9:96928114-96928134 chr9:96928118-96928131 chr9:96928201-96928214
30	ZNF143	chr9:96927895-96929524	H1-hESC	embryonic stem cell:	n/a	chr9:96929269-96929287 chr9:96929064-96929074 chr9:96928784-96928802 chr9:96928490-96928500 chr9:96928193-96928211 chr9:96928926-96928944
31	ELF1	chr9:96927949-96929509	K562	blood:	n/a	chr9:96928724-96928733 chr9:96928596-96928605 chr9:96928678-96928687 chr9:96928494-96928506
32	MYC	chr9:96927481-96929683	K562	blood:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
33	POLR2A	chr9:96927910-96929888	Hela-S3	cervix:	n/a	n/a
34	HEY1	chr9:96927842-96929696	HepG2	liver:	n/a	chr9:96928898-96928913 chr9:96929119-96929128 chr9:96928488-96928503 chr9:96928516-96928531 chr9:96929117-96929126
35	POLR2A	chr9:96927195-96930723	GM12891	blood:	n/a	n/a
36	POLR2A	chr9:96927929-96929603	Gliobla	brain:	n/a	n/a
37	MYC	chr9:96927972-96929846	MCF10A-Er-Src	breast:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
38	RFX5	chr9:96928055-96928505	K562	blood:	n/a	n/a
39	POLR2A	chr9:96927921-96929720	GM12891	blood:	n/a	n/a
40	REST	chr9:96927709-96929745	H1-neurons	neurons:	n/a	chr9:96928201-96928214 chr9:96928114-96928134 chr9:96928588-96928601 chr9:96928118-96928131 chr9:96928201-96928214 chr9:96929437-96929444 chr9:96928591-96928604
41	HDAC2	chr9:96927865-96929770	MCF-7	breast:	n/a	chr9:96928652-96928661
42	MYC	chr9:96927925-96929540	K562	blood:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
43	MAZ	chr9:96927954-96929727	HepG2	liver:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
44	RFX5	chr9:96927981-96928649	GM12878	blood:	n/a	n/a
45	ZNF143	chr9:96927800-96929548	K562	blood:	n/a	chr9:96929269-96929287 chr9:96929064-96929074 chr9:96928784-96928802 chr9:96928490-96928500 chr9:96928193-96928211 chr9:96928926-96928944
46	HCFC1	chr9:96927547-96930818	Hela-S3	cervix:	n/a	n/a
47	TBP	chr9:96927928-96929819	H1-hESC	embryonic stem cell:	n/a	n/a
48	MYC	chr9:96927942-96929500	MCF-7	breast:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
49	E2F6	chr9:96927798-96929595	K562	blood:	n/a	chr9:96928382-96928392 chr9:96929119-96929128 chr9:96928931-96928943 chr9:96928190-96928200 chr9:96928490-96928500 chr9:96928579-96928591 chr9:96929117-96929126 chr9:96929064-96929074 chr9:96928907-96928917
50	TBL1XR1	chr9:96927576-96929645	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:96927010..96929542-chr9:97400485..97402088,2	MCF-7	breast:
2	chr9:96911236..96913938-chr9:96926952..96928493,2	MCF-7	breast:
3	chr9:96337657..96339290-chr9:96927321..96930180,2	K562	blood:
4	chr9:96790341..96794271-chr9:96926817..96931236,5	K562	blood:
5	chr9:96791956..96794354-chr9:96926207..96931491,6	MCF-7	breast:
6	chr15:91497959..91498724-chr9:96927748..96928648,2	Hela-S3	cervix:
7	chr9:96790823..96795467-chr9:96925835..96932235,7	K562	blood:
8	chr9:96845151..96850974-chr9:96927067..96931575,8	K562	blood:
9	chr9:96861428..96863422-chr9:96927160..96928732,2	MCF-7	breast:
10	chr9:96927406..96930148-chr9:97007636..97010398,2	MCF-7	breast:
11	chr9:96905663..96907940-chr9:96926715..96928230,2	K562	blood:
12	chr9:96792323..96794528-chr9:96927672..96930924,4	MCF-7	breast:
13	chr9:96845151..96851769-chr9:96927067..96931565,10	K562	blood:

Variant related genes	Relation type
ENSG00000269946	TF binding region
ENSG00000258384	Chromatin interaction
ENSG00000166965	Chromatin interaction
ENSG00000158079	Chromatin interaction
ENSG00000197724	Chromatin interaction
ENSG00000252723	Chromatin interaction
ENSG00000165140	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10512230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10739971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10761320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10761323	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10761324	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10821305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10821306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10821310	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10821311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10821316	0.84[EUR][1000 genomes]
rs10821317	0.84[EUR][1000 genomes]
rs10993072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10993073	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10993074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10993075	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10993095	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10993096	0.84[EUR][1000 genomes]
rs10993097	0.84[EUR][1000 genomes]
rs10993100	0.84[EUR][1000 genomes]
rs11790972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12004367	0.83[EUR][1000 genomes]
rs12551019	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13293512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2039012	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34181781	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7025395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7030004	0.84[EUR][1000 genomes]
rs7865876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9409706	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
2	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 gene(s)	inside rSNPs	diseases
3	esv3435412	chr9:96924949-96935312	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv3323629	chr9:96927556-96930104	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr9:96926000-96928400	Enhancers	Primary hematopoietic stem cells	blood
2	chr9:96927000-96928200	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr9:96927000-96928200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:96927400-96928200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
5	chr9:96927400-96928200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:96927400-96928200	Flanking Active TSS	GM12878-XiMat	blood
7	chr9:96927400-96929200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr9:96927600-96928200	Flanking Active TSS	A549	lung
9	chr9:96927600-96928200	Flanking Active TSS	Dnd41	blood
10	chr9:96927600-96928200	Flanking Active TSS	K562	blood
11	chr9:96927800-96928200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:96927800-96928200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:96927800-96928200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:96927800-96928200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr9:96927800-96928200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr9:96927800-96928200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr9:96927800-96928200	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr9:96927800-96928200	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr9:96927800-96928200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr9:96927800-96928200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr9:96927800-96928200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr9:96927800-96928200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr9:96927800-96928200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr9:96927800-96928200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr9:96927800-96928200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr9:96927800-96928200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr9:96927800-96928200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr9:96927800-96928200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr9:96927800-96928200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:96927800-96928200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr9:96927800-96928200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:96927800-96928200	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr9:96927800-96928200	Flanking Active TSS	Liver	Liver
34	chr9:96927800-96928200	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr9:96927800-96928200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr9:96927800-96928200	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr9:96927800-96928200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr9:96927800-96928200	Enhancers	Fetal Brain Male	brain
39	chr9:96927800-96928200	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr9:96927800-96928200	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr9:96927800-96928200	Flanking Active TSS	Placenta	Placenta
42	chr9:96927800-96928200	Flanking Active TSS	Fetal Thymus	thymus
43	chr9:96927800-96928200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr9:96927800-96928200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr9:96927800-96928200	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr9:96927800-96928200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr9:96927800-96928200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr9:96927800-96928200	Flanking Active TSS	Thymus	Thymus
49	chr9:96927800-96928200	Flanking Active TSS	Hela-S3	cervix
50	chr9:96927800-96928200	Flanking Active TSS	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links