Variant report

Variant	rs7084298
Chromosome Location	chr10:22634257-22634258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:22634140-22634290	SK-N-SH_RA	brain:	n/a	n/a
2	ZNF263	chr10:22633768-22634584	HEK293-T-REx	kidney:	n/a	n/a
3	YY1	chr10:22634156-22634721	H1-hESC	embryonic stem cell:	n/a	chr10:22634327-22634341 chr10:22634304-22634313
4	GABPA	chr10:22634241-22634515	HL-60	blood:	n/a	n/a
5	SIN3A	chr10:22634000-22635123	H1-hESC	embryonic stem cell:	n/a	chr10:22634112-22634125
6	TBP	chr10:22634183-22634371	H1-hESC	embryonic stem cell:	n/a	n/a
7	GABPA	chr10:22634133-22634617	SK-N-SH	brain:	n/a	n/a
8	MAX	chr10:22633874-22634847	H1-hESC	embryonic stem cell:	n/a	chr10:22634107-22634116
9	CREB1	chr10:22633944-22634757	H1-hESC	embryonic stem cell:	n/a	chr10:22634340-22634353
10	BRCA1	chr10:22634226-22634426	H1-hESC	embryonic stem cell:	n/a	n/a
11	GABPA	chr10:22634057-22634646	SK-N-SH	brain:	n/a	n/a
12	RAD21	chr10:22634031-22634787	H1-hESC	embryonic stem cell:	n/a	n/a
13	ELF1	chr10:22633967-22635007	GM12878	blood:	n/a	chr10:22634304-22634313
14	CREB1	chr10:22633982-22634715	H1-hESC	embryonic stem cell:	n/a	chr10:22634340-22634353
15	JUND	chr10:22634192-22634720	H1-hESC	embryonic stem cell:	n/a	chr10:22634308-22634317 chr10:22634342-22634351
16	GABPA	chr10:22634204-22634520	GM12878	blood:	n/a	n/a
17	GABPA	chr10:22634069-22634608	H1-hESC	embryonic stem cell:	n/a	n/a
18	TEAD4	chr10:22634171-22634751	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr10:22634079-22634582	GM19099	blood:	n/a	n/a
20	PAX5	chr10:22634180-22634484	GM12878	blood:	n/a	n/a
21	E2F6	chr10:22633867-22634827	H1-hESC	embryonic stem cell:	n/a	chr10:22634217-22634231 chr10:22634343-22634352 chr10:22634341-22634350 chr10:22634305-22634315
22	ZNF143	chr10:22634067-22634639	H1-hESC	embryonic stem cell:	n/a	n/a
23	HMGN3	chr10:22634073-22634278	K562	blood:	n/a	n/a
24	POLR2A	chr10:22633642-22634880	H1-neurons	neurons:	n/a	n/a
25	CREB1	chr10:22634036-22634613	GM12878	blood:	n/a	chr10:22634340-22634353
26	POLR2A	chr10:22634036-22634474	SK-N-MC	brain:	n/a	n/a
27	MYC	chr10:22634186-22634385	H1-hESC	embryonic stem cell:	n/a	n/a
28	GABPA	chr10:22634122-22634592	H1-hESC	embryonic stem cell:	n/a	n/a
29	PAX5	chr10:22634140-22634550	GM12892	blood:	n/a	n/a
30	CHD2	chr10:22634196-22634573	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTBP2	chr10:22634022-22635014	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr10:22634171-22634674	H1-hESC	embryonic stem cell:	n/a	n/a
33	E2F6	chr10:22633831-22634804	H1-hESC	embryonic stem cell:	n/a	chr10:22634217-22634231 chr10:22634343-22634352 chr10:22634341-22634350 chr10:22634305-22634315
34	MAX	chr10:22634155-22634390	GM12878	blood:	n/a	n/a
35	JUND	chr10:22634247-22634589	H1-hESC	embryonic stem cell:	n/a	chr10:22634308-22634317 chr10:22634342-22634351
36	SUZ12	chr10:22633861-22635189	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr10:22634017-22634675	H1-hESC	embryonic stem cell:	n/a	chr10:22634107-22634116
38	MAX	chr10:22633952-22634569	SK-N-SH	brain:	n/a	chr10:22634107-22634116
39	EP300	chr10:22634181-22634566	H1-hESC	embryonic stem cell:	n/a	chr10:22634239-22634255
40	USF2	chr10:22634237-22634540	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr10:22633696-22634468	H1-neurons	neurons:	n/a	n/a
42	BACH1	chr10:22633829-22634663	H1-hESC	embryonic stem cell:	n/a	n/a
43	RAD21	chr10:22634237-22634616	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr10:22633924-22634816	H1-hESC	embryonic stem cell:	n/a	chr10:22634107-22634116

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:22634218-22634268	ProgFib	skin:	n/a
2	chr10:22634218-22634268	HUVEC	blood vessel:	n/a
3	chr10:22634226-22634276	HEK293	kidney:	embryo
4	chr10:22634224-22634274	Caco-2	colon:	n/a
5	chr10:22634226-22634276	HPAEpiC	pulmonary alveolar:	n/a
6	chr10:22634226-22634276	HepG2	liver:	n/a
7	chr10:22634218-22634268	AG09309	skin:	n/a
8	chr10:22634218-22634268	HRPEpiC	eye:	n/a
9	chr10:22634218-22634268	ovcar-3	ovarian:	n/a
10	chr10:22634218-22634268	GM19239	blood:	n/a
11	chr10:22634226-22634276	HIPEpiC	eye:	n/a
12	chr10:22634218-22634268	AG09319	gingival:	n/a
13	chr10:22634218-22634268	NH-A	brain:	n/a
14	chr10:22634218-22634268	HNPCEpiC	eye:	n/a
15	chr10:22634224-22634274	GM12891	blood:	n/a
16	chr10:22634218-22634268	HCT-116	colon:	n/a
17	chr10:22634218-22634268	HRE	kidney:	n/a
18	chr10:22634224-22634274	CMK	blood:	n/a
19	chr10:22634224-22634274	Hela-S3	cervix:	n/a
20	chr10:22634218-22634268	HPAEpiC	pulmonary alveolar:	n/a
21	chr10:22634218-22634268	GM06990	blood:	n/a
22	chr10:22634226-22634276	Jurkat	blood:	n/a
23	chr10:22634218-22634268	HMEC	breast:	n/a
24	chr10:22634226-22634276	AoSMC	blood vessel:	n/a
25	chr10:22634226-22634276	GM19239	blood:	n/a
26	chr10:22634224-22634274	T-47D	breast:	n/a
27	chr10:22634224-22634274	GM12892	blood:	n/a
28	chr10:22634218-22634268	IMR90	lung:	fetal
29	chr10:22634226-22634276	MCF-7	breast:	n/a
30	chr10:22634218-22634268	CMK	blood:	n/a
31	chr10:22634224-22634274	HCF	heart:	n/a
32	chr10:22634218-22634268	Hepatocyte	liver:	n/a
33	chr10:22634226-22634276	GM12878	blood:	n/a
34	chr10:22634224-22634274	IMR90	lung:	fetal
35	chr10:22634218-22634268	ECC-1	luminal epithelium:	n/a
36	chr10:22634218-22634268	Jurkat	blood:	n/a
37	chr10:22634226-22634276	NB4	blood:	n/a
38	chr10:22634224-22634274	Hepatocyte	liver:	n/a
39	chr10:22634226-22634276	LNCaP	prostate:	n/a
40	chr10:22634224-22634274	HIPEpiC	eye:	n/a
41	chr10:22634218-22634268	GM12891	blood:	n/a
42	chr10:22634224-22634274	SKMC	muscle:	n/a
43	chr10:22634224-22634274	LNCaP	prostate:	n/a
44	chr10:22634226-22634276	AG09319	gingival:	n/a
45	chr10:22634226-22634276	IMR90	lung:	fetal
46	chr10:22634218-22634268	GM12878	blood:	n/a
47	chr10:22634224-22634274	GM12878	blood:	n/a
48	chr10:22634224-22634274	GM06990	blood:	n/a
49	chr10:22634224-22634274	HCM	heart:	n/a
50	chr10:22634224-22634274	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
SPAG6	TF binding region
ENSG00000272366	TF binding region
SPAG6	CpG island
ENSG00000272366	CpG island

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10508643	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11012884	1.00[AMR][1000 genomes]
rs11012929	1.00[AMR][1000 genomes]
rs11012930	1.00[AMR][1000 genomes]
rs11012959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11012963	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11813663	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12249265	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12253809	1.00[AMR][1000 genomes]
rs12257327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16922161	1.00[AMR][1000 genomes]
rs2026631	0.83[AFR][1000 genomes]
rs7075793	0.83[AFR][1000 genomes]
rs7088482	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7092238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7094794	1.00[AMR][1000 genomes]
rs73596583	1.00[AMR][1000 genomes]
rs73596584	1.00[AMR][1000 genomes]
rs73596585	1.00[AMR][1000 genomes]
rs73596586	1.00[AMR][1000 genomes]
rs7904329	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7911562	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7913154	1.00[AMR][1000 genomes]
rs7913454	1.00[AMR][1000 genomes]
rs9971241	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825292	chr10:22560347-22642200	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv825293	chr10:22575226-22637618	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv825294	chr10:22590627-22644910	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv825295	chr10:22591275-22643207	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv825296	chr10:22591339-22638994	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv894950	chr10:22591830-22639903	Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv894957	chr10:22594765-22637381	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv1816646	chr10:22594765-22639707	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv894958	chr10:22594765-22639903	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv825297	chr10:22596793-22637576	Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv825299	chr10:22596793-22638994	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer 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	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22633000-22634400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr10:22633600-22634400	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
3	chr10:22633600-22635000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr10:22633600-22635400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
5	chr10:22633800-22634400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
6	chr10:22633800-22634400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
7	chr10:22633800-22634400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
8	chr10:22633800-22634600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr10:22633800-22635000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr10:22633800-22635000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr10:22633800-22635000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
12	chr10:22633800-22635000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
13	chr10:22633800-22635200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr10:22633800-22635200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr10:22633800-22635200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:22633800-22635200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
17	chr10:22633800-22635400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr10:22634000-22634400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
19	chr10:22634000-22634400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr10:22634000-22634400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr10:22634000-22634400	Bivalent/Poised TSS	Colonic Mucosa	Colon
22	chr10:22634000-22634400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr10:22634000-22634400	Bivalent Enhancer	Placenta	Placenta
24	chr10:22634000-22634400	Bivalent/Poised TSS	Fetal Stomach	stomach
25	chr10:22634000-22634600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
26	chr10:22634000-22634600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr10:22634000-22634600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
28	chr10:22634000-22634600	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
29	chr10:22634000-22634600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
30	chr10:22634000-22634600	Bivalent/Poised TSS	HMEC	breast
31	chr10:22634000-22634800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:22634000-22634800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr10:22634000-22634800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr10:22634000-22634800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr10:22634000-22634800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr10:22634000-22634800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
37	chr10:22634000-22634800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr10:22634000-22634800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr10:22634000-22634800	ZNF genes & repeats	Aorta	Aorta
40	chr10:22634000-22634800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
41	chr10:22634000-22634800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
42	chr10:22634000-22634800	Bivalent/Poised TSS	Fetal Brain Female	brain
43	chr10:22634000-22634800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
44	chr10:22634000-22634800	Active TSS	Right Atrium	heart
45	chr10:22634000-22634800	Bivalent/Poised TSS	HSMM	muscle
46	chr10:22634000-22634800	Bivalent/Poised TSS	HSMMtube	muscle
47	chr10:22634000-22635000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
48	chr10:22634000-22635000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr10:22634000-22635000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr10:22634000-22635000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell

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