Variant report

Variant	rs10811624
Chromosome Location	chr9:21812720-21812721
allele	C/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	RAD21	chr9:21812428-21812757	Hela-S3	cervix:	n/a	n/a
2	JUN	chr9:21812412-21812856	HUVEC	blood vessel:	n/a	chr9:21812617-21812630
3	EP300	chr9:21812427-21812790	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr9:21812040-21813215	PFSK-1	brain:	n/a	n/a
5	CEBPB	chr9:21812326-21813326	Hela-S3	cervix:	n/a	chr9:21812969-21812980
6	MAFK	chr9:21812383-21813442	Hela-S3	cervix:	n/a	chr9:21813415-21813425
7	CTCF	chr9:21812469-21814351	SK-N-SH	brain:	n/a	chr9:21814037-21814053 chr9:21813156-21813177 chr9:21813155-21813171 chr9:21814039-21814052 chr9:21813430-21813443 chr9:21813154-21813172 chr9:21813157-21813165 chr9:21814036-21814054 chr9:21814038-21814059 chr9:21814012-21814020
8	CTCF	chr9:21812700-21812850	HAc	cerebellar:	n/a	n/a
9	SMC3	chr9:21812326-21814372	Hela-S3	cervix:	n/a	chr9:21814038-21814052 chr9:21813156-21813170
10	CHD1	chr9:21812496-21813645	IMR90	lung:	n/a	n/a
11	POLR2A	chr9:21811561-21814235	Hela-S3	cervix:	n/a	n/a
12	JUN	chr9:21812426-21813374	Hela-S3	cervix:	n/a	chr9:21812617-21812630
13	CEBPB	chr9:21812408-21813276	A549	lung:	n/a	chr9:21812969-21812980
14	JUND	chr9:21812445-21813314	Hela-S3	cervix:	n/a	chr9:21812656-21812667
15	JUND	chr9:21812528-21812784	H1-hESC	embryonic stem cell:	n/a	chr9:21812656-21812667
16	POLR2A	chr9:21812276-21813198	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr9:21812560-21814298	MCF-7	breast:	n/a	n/a
18	GATA2	chr9:21812377-21813181	HUVEC	blood vessel:	n/a	n/a
19	GTF2F1	chr9:21812522-21813282	Hela-S3	cervix:	n/a	n/a
20	RCOR1	chr9:21812363-21813330	Hela-S3	cervix:	n/a	n/a
21	JUND	chr9:21812486-21812791	HepG2	liver:	n/a	chr9:21812656-21812667
22	JUN	chr9:21812498-21812784	HepG2	liver:	n/a	chr9:21812617-21812630
23	POLR2A	chr9:21812353-21812753	HCT-116	colon:	n/a	n/a
24	STAT3	chr9:21812498-21812799	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr9:21811752-21814285	A549	lung:	n/a	n/a
26	POLR2A	chr9:21812380-21812722	Hela-S3	cervix:	n/a	n/a
27	FOSL2	chr9:21812369-21812759	A549	lung:	n/a	n/a
28	FOS	chr9:21812424-21812887	HUVEC	blood vessel:	n/a	chr9:21812656-21812667
29	RFX5	chr9:21812502-21813434	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr9:21812521-21813392	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:21812476..21814067-chr9:22243888..22245328,7	MCF-7	breast:
2	chr9:21811237..21820561-chr9:21988636..21997115,18	MCF-7	breast:
3	chr9:21811532..21820564-chr9:21988281..21997291,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266732	TF binding region
TUBB8P1	TF binding region
ENSG00000147889	Chromatin interaction
ENSG00000266446	Chromatin interaction
ENSG00000240498	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10115601	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10217131	0.90[CEU][hapmap]
rs10217379	0.90[CEU][hapmap]
rs10811599	0.85[AMR][1000 genomes]
rs10811612	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10811614	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10965139	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10965146	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10965147	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10965150	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12337510	0.81[CEU][hapmap]
rs12348884	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12378675	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs13300161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1544195	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2185683	1.00[ASN][1000 genomes]
rs4375086	0.90[CEU][hapmap]
rs4543632	0.90[CEU][hapmap]
rs6475581	0.90[CEU][hapmap]
rs6475583	0.90[CEU][hapmap]
rs6475584	0.81[CEU][hapmap]
rs6475590	1.00[ASN][1000 genomes]
rs7029287	0.81[CEU][hapmap]
rs71506705	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7851125	0.81[CEU][hapmap]
rs7860126	0.81[CEU][hapmap]
rs7867176	0.81[CEU][hapmap]
rs7871477	0.81[CEU][hapmap]
rs885518	0.81[CEU][hapmap]
rs9722004	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21804000-21814200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:21804000-21817600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:21804000-21838200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr9:21804200-21813200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr9:21804200-21813200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr9:21804400-21813200	Weak transcription	Colonic Mucosa	Colon
7	chr9:21804400-21816000	Weak transcription	Fetal Kidney	kidney
8	chr9:21804800-21813600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr9:21805000-21813200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr9:21805000-21816200	Weak transcription	Fetal Brain Male	brain
11	chr9:21805200-21812800	Strong transcription	Fetal Stomach	stomach
12	chr9:21805200-21813200	Weak transcription	Psoas Muscle	Psoas
13	chr9:21805200-21813400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr9:21805800-21813200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr9:21805800-21813200	Weak transcription	Brain Angular Gyrus	brain
16	chr9:21806000-21817600	Genic enhancers	HMEC	breast
17	chr9:21806200-21813200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr9:21806400-21812800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:21806400-21813200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr9:21806400-21813200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:21806400-21819800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr9:21806600-21815800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:21806600-21841200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:21806800-21812800	Strong transcription	Primary T cells from cord blood	blood
25	chr9:21806800-21813200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr9:21806800-21815800	Weak transcription	Brain Germinal Matrix	brain
27	chr9:21807000-21813600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:21807200-21812800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr9:21807200-21813200	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr9:21807200-21813400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr9:21807400-21813200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr9:21807400-21813200	Weak transcription	Brain Substantia Nigra	brain
33	chr9:21807600-21813600	Weak transcription	Fetal Heart	heart
34	chr9:21808000-21812800	Strong transcription	Dnd41	blood
35	chr9:21808600-21812800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr9:21809200-21836800	Weak transcription	Small Intestine	intestine
37	chr9:21809400-21813600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr9:21809600-21813600	Weak transcription	HSMMtube	muscle
39	chr9:21809800-21813200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr9:21809800-21813800	Genic enhancers	NHEK	skin
41	chr9:21809800-21814400	Genic enhancers	A549	lung
42	chr9:21810200-21813000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:21810200-21813600	Genic enhancers	Osteobl	bone
44	chr9:21810800-21812800	Enhancers	Right Ventricle	heart
45	chr9:21810800-21813200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr9:21810800-21813200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr9:21810800-21813200	Weak transcription	NHDF-Ad	bronchial
48	chr9:21810800-21813400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr9:21810800-21813800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr9:21811000-21813200	Weak transcription	Primary B cells from peripheral blood	blood

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