Variant report

Variant	rs12336185
Chromosome Location	chr9:26976444-26976445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF7	chr9:26975849-26976501	H1-hESC	embryonic stem cell:	n/a	n/a
2	SETDB1	chr9:26975530-26976695	U2OS	brain:	n/a	n/a
3	USF2	chr9:26975658-26976550	H1-hESC	embryonic stem cell:	n/a	chr9:26975906-26975917
4	SRF	chr9:26976295-26976868	ECC-1	luminal epithelium:	n/a	chr9:26976595-26976613
5	KAP1	chr9:26975530-26976553	HEK293	kidney:	n/a	n/a
6	POLR2A	chr9:26975531-26976693	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr9:26975209-26976501	H1-neurons	neurons:	n/a	n/a
8	MAX	chr9:26975672-26976771	H1-hESC	embryonic stem cell:	n/a	chr9:26975920-26975931
9	ATF2	chr9:26975411-26976863	H1-hESC	embryonic stem cell:	n/a	n/a
10	YY1	chr9:26975609-26976472	H1-hESC	embryonic stem cell:	n/a	n/a
11	TAF1	chr9:26975525-26976797	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAFK	chr9:26976281-26976823	H1-hESC	embryonic stem cell:	n/a	n/a
13	TBP	chr9:26974944-26976904	H1-hESC	embryonic stem cell:	n/a	n/a
14	TAF1	chr9:26975474-26976877	H1-hESC	embryonic stem cell:	n/a	n/a
15	EP300	chr9:26976141-26976884	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr9:26974800-26976880	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr9:26975668-26976921	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr9:26975685-26976543	H1-hESC	embryonic stem cell:	n/a	chr9:26975920-26975931
19	CREB1	chr9:26975679-26976677	H1-hESC	embryonic stem cell:	n/a	n/a
20	USF1	chr9:26976294-26976702	H1-hESC	embryonic stem cell:	n/a	n/a
21	SP4	chr9:26975697-26976474	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr9:26974571-26976914	H1-hESC	embryonic stem cell:	n/a	n/a
23	TEAD4	chr9:26976379-26976882	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr9:26975163-26976501	H1-hESC	embryonic stem cell:	n/a	n/a
25	MYC	chr9:26975735-26976471	H1-hESC	embryonic stem cell:	n/a	chr9:26975920-26975931
26	SRF	chr9:26976364-26976809	ECC-1	luminal epithelium:	n/a	chr9:26976595-26976613
27	SP1	chr9:26975605-26976897	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr9:26975643-26976882	H1-hESC	embryonic stem cell:	n/a	chr9:26975920-26975931
29	TAF7	chr9:26974953-26976824	H1-hESC	embryonic stem cell:	n/a	n/a
30	SRF	chr9:26976243-26976870	H1-hESC	embryonic stem cell:	n/a	chr9:26976595-26976613
31	SRF	chr9:26976089-26976883	H1-hESC	embryonic stem cell:	n/a	chr9:26976595-26976613
32	SIN3A	chr9:26975680-26976586	H1-hESC	embryonic stem cell:	n/a	n/a
33	GTF2F1	chr9:26975583-26976731	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr9:26974808-26976775	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr9:26974646-26976893	H1-hESC	embryonic stem cell:	n/a	n/a
36	JUND	chr9:26975064-26976910	H1-hESC	embryonic stem cell:	n/a	n/a
37	ATF2	chr9:26975542-26976829	H1-hESC	embryonic stem cell:	n/a	n/a
38	TEAD4	chr9:26976236-26976925	H1-hESC	embryonic stem cell:	n/a	n/a
39	SP1	chr9:26976139-26976929	H1-hESC	embryonic stem cell:	n/a	n/a
40	MXI1	chr9:26975550-26976769	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:26945881..26949167-chr9:26974909..26976838,3	MCF-7	breast:

No data

Variant related genes	Relation type
IFT74	TF binding region
ENSG00000137055	Chromatin interaction
ENSG00000096872	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10217666	1.00[AFR][1000 genomes]
rs10967618	0.91[AFR][1000 genomes]
rs10967619	0.84[AFR][1000 genomes]
rs10967620	0.84[AFR][1000 genomes]
rs10967659	1.00[AFR][1000 genomes]
rs12336174	1.00[AFR][1000 genomes]
rs12336232	1.00[AFR][1000 genomes]
rs12339549	0.91[AFR][1000 genomes]
rs12339708	1.00[AFR][1000 genomes]
rs12340112	1.00[AFR][1000 genomes]
rs12341712	1.00[AFR][1000 genomes]
rs12344880	0.82[AFR][1000 genomes]
rs12346926	1.00[AFR][1000 genomes]
rs12348593	1.00[AFR][1000 genomes]
rs12348715	0.91[AFR][1000 genomes]
rs12351839	0.91[AFR][1000 genomes]
rs12352013	0.91[AFR][1000 genomes]
rs12352278	0.91[AFR][1000 genomes]
rs13440285	1.00[AFR][1000 genomes]
rs28509785	0.91[AFR][1000 genomes]
rs28525632	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528614	chr9:26893662-27074233	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv517269	chr9:26945976-27137242	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv892862	chr9:26956663-27190655	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26957000-26980800	Weak transcription	Lung	lung
2	chr9:26957000-26983200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:26957000-26984400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr9:26957000-27024000	Weak transcription	Esophagus	oesophagus
5	chr9:26957200-26980800	Weak transcription	Fetal Intestine Large	intestine
6	chr9:26957200-26980800	Weak transcription	Fetal Stomach	stomach
7	chr9:26957200-26982600	Weak transcription	Fetal Muscle Leg	muscle
8	chr9:26957200-26982600	Weak transcription	Left Ventricle	heart
9	chr9:26957200-26983200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr9:26957200-26983200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr9:26957200-26984400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr9:26957200-26984400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr9:26957200-26984600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr9:26957200-26984800	Weak transcription	Primary B cells from cord blood	blood
15	chr9:26957200-26984800	Weak transcription	Fetal Thymus	thymus
16	chr9:26957200-27026600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr9:26957200-27040000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr9:26957400-26978200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr9:26957400-26980800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr9:26957400-26982800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr9:26957400-26983200	Weak transcription	Brain Anterior Caudate	brain
22	chr9:26957400-26983400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr9:26957400-26984600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr9:26957600-26979400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:26957600-26982800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:26957600-26983200	Weak transcription	Fetal Kidney	kidney
27	chr9:26957600-26983400	Weak transcription	Brain Angular Gyrus	brain
28	chr9:26957600-26984800	Weak transcription	Brain Hippocampus Middle	brain
29	chr9:26957800-26976600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:26957800-26984600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr9:26958600-26981000	Weak transcription	Ovary	ovary
32	chr9:26960000-26976600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:26962200-26981600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr9:26962200-26986400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:26962400-26984600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr9:26962400-26985000	Weak transcription	Brain Substantia Nigra	brain
37	chr9:26962600-26977400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr9:26962600-26977600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr9:26962600-26984600	Weak transcription	HSMM	muscle
40	chr9:26963800-26983200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr9:26966400-26984600	Weak transcription	Fetal Brain Male	brain
42	chr9:26969000-26991200	Weak transcription	NHDF-Ad	bronchial
43	chr9:26969600-26986600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr9:26970400-26982600	Weak transcription	Fetal Lung	lung
45	chr9:26970400-26983200	Weak transcription	Primary T cells from cord blood	blood
46	chr9:26970400-26984200	Weak transcription	Dnd41	blood
47	chr9:26970800-26990000	Weak transcription	Spleen	Spleen
48	chr9:26971000-26976600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr9:26971000-26980800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr9:26971000-26983200	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links