Variant report

Variant	rs11259192
Chromosome Location	chr10:5726821-5726822
allele	A/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	IRF1	chr10:5726088-5727003	K562	blood:	n/a	chr10:5726740-5726753 chr10:5726745-5726756 chr10:5726740-5726751 chr10:5726740-5726753 chr10:5726741-5726755 chr10:5726737-5726751 chr10:5726743-5726757 chr10:5726741-5726751 chr10:5726740-5726754 chr10:5726739-5726759
2	HCFC1	chr10:5725796-5727904	Hela-S3	cervix:	n/a	n/a
3	TAF1	chr10:5726670-5726927	GM12891	blood:	n/a	n/a
4	MYC	chr10:5726294-5727788	Hela-S3	cervix:	n/a	chr10:5726467-5726478 chr10:5726759-5726769 chr10:5726468-5726477 chr10:5726468-5726478 chr10:5726467-5726478 chr10:5726466-5726479 chr10:5726467-5726476 chr10:5726464-5726479 chr10:5726468-5726478 chr10:5726470-5726479 chr10:5726467-5726477
5	NRF1	chr10:5726355-5727097	SK-N-SH	brain:	n/a	chr10:5726623-5726637 chr10:5726625-5726634 chr10:5726620-5726634 chr10:5726675-5726686 chr10:5726623-5726634 chr10:5726675-5726686 chr10:5726623-5726634 chr10:5726672-5726686
6	MAZ	chr10:5726336-5727875	GM12878	blood:	n/a	chr10:5726467-5726478 chr10:5726759-5726769 chr10:5726468-5726477 chr10:5726468-5726478 chr10:5726467-5726478 chr10:5726466-5726479 chr10:5726467-5726476 chr10:5726464-5726479 chr10:5726468-5726478 chr10:5726470-5726479 chr10:5726467-5726477
7	SMARCB1	chr10:5726400-5727640	Hela-S3	cervix:	n/a	n/a
8	GTF2F1	chr10:5726187-5726871	K562	blood:	n/a	n/a
9	MYC	chr10:5726273-5727195	MCF-7	breast:	n/a	chr10:5726467-5726478 chr10:5726759-5726769 chr10:5726468-5726477 chr10:5726468-5726478 chr10:5726467-5726478 chr10:5726466-5726479 chr10:5726467-5726476 chr10:5726464-5726479 chr10:5726468-5726478 chr10:5726470-5726479 chr10:5726467-5726477
10	ZBTB33	chr10:5726116-5727077	SK-N-SH	brain:	n/a	chr10:5726791-5726798
11	TCF7L2	chr10:5726355-5727707	HCT-116	colon:	n/a	n/a
12	GABPA	chr10:5726363-5727115	HepG2	liver:	n/a	chr10:5726623-5726637 chr10:5726625-5726634 chr10:5726620-5726634 chr10:5726675-5726686 chr10:5726623-5726634 chr10:5726672-5726686
13	RFX5	chr10:5726393-5726835	HepG2	liver:	n/a	n/a
14	TBP	chr10:5726577-5726925	HepG2	liver:	n/a	n/a
15	POLR2A	chr10:5726731-5726942	SK-N-SH	brain:	n/a	n/a
16	HEY1	chr10:5726275-5727044	HepG2	liver:	n/a	n/a
17	POLR2A	chr10:5726323-5727634	K562	blood:	n/a	n/a
18	SETDB1	chr10:5726216-5727578	K562	blood:	n/a	chr10:5726676-5726685
19	TAF1	chr10:5726305-5726976	PFSK-1	brain:	n/a	n/a
20	FOXM1	chr10:5726152-5727856	GM12878	blood:	n/a	n/a
21	POLR2A	chr10:5726279-5727721	K562	blood:	n/a	n/a
22	MAZ	chr10:5726429-5726901	HepG2	liver:	n/a	chr10:5726467-5726478 chr10:5726759-5726769 chr10:5726468-5726477 chr10:5726468-5726478 chr10:5726467-5726478 chr10:5726466-5726479 chr10:5726467-5726476 chr10:5726464-5726479 chr10:5726468-5726478 chr10:5726470-5726479 chr10:5726467-5726477
23	TAF1	chr10:5726663-5727039	K562	blood:	n/a	n/a
24	RCOR1	chr10:5726340-5726991	Hela-S3	cervix:	n/a	n/a
25	RCOR1	chr10:5726122-5726850	GM12878	blood:	n/a	n/a
26	IRF1	chr10:5726198-5728754	K562	blood:	n/a	chr10:5726740-5726753 chr10:5726745-5726756 chr10:5726740-5726751 chr10:5726740-5726753 chr10:5726741-5726755 chr10:5726737-5726751 chr10:5726743-5726757 chr10:5726741-5726751 chr10:5726740-5726754 chr10:5726739-5726759
27	ELK1	chr10:5726350-5727659	K562	blood:	n/a	chr10:5726800-5726809 chr10:5726800-5726809
28	RFX5	chr10:5726413-5727006	Hela-S3	cervix:	n/a	n/a
29	ELF1	chr10:5726374-5727336	K562	blood:	n/a	chr10:5726801-5726810
30	POLR2A	chr10:5726268-5727180	A549	lung:	n/a	n/a
31	SIN3AK20	chr10:5726083-5727962	MCF-7	breast:	n/a	n/a
32	MAX	chr10:5726245-5727812	Hela-S3	cervix:	n/a	chr10:5726467-5726478 chr10:5726759-5726769 chr10:5726468-5726477 chr10:5726468-5726478 chr10:5726467-5726478 chr10:5726466-5726479 chr10:5726467-5726476 chr10:5726464-5726479 chr10:5726468-5726478 chr10:5726470-5726479 chr10:5726467-5726477
33	TAF1	chr10:5726424-5727432	H1-hESC	embryonic stem cell:	n/a	n/a
34	YY1	chr10:5726331-5727056	ECC-1	luminal epithelium:	n/a	n/a
35	MYC	chr10:5726159-5727824	K562	blood:	n/a	chr10:5726467-5726478 chr10:5726759-5726769 chr10:5726468-5726477 chr10:5726468-5726478 chr10:5726467-5726478 chr10:5726466-5726479 chr10:5726467-5726476 chr10:5726464-5726479 chr10:5726468-5726478 chr10:5726470-5726479 chr10:5726467-5726477
36	ZBTB33	chr10:5726227-5726886	HCT-116	colon:	n/a	chr10:5726791-5726798
37	USF2	chr10:5726276-5728011	GM12878	blood:	n/a	chr10:5726466-5726477 chr10:5727206-5727222
38	MYC	chr10:5726180-5727874	NB4	blood:	n/a	chr10:5726467-5726478 chr10:5726759-5726769 chr10:5726468-5726477 chr10:5726468-5726478 chr10:5726467-5726478 chr10:5726466-5726479 chr10:5726467-5726476 chr10:5726464-5726479 chr10:5726468-5726478 chr10:5726470-5726479 chr10:5726467-5726477
39	POLR2A	chr10:5726015-5727753	GM18951	blood:	n/a	n/a
40	MYC	chr10:5726283-5727576	MCF-7	breast:	n/a	chr10:5726467-5726478 chr10:5726759-5726769 chr10:5726468-5726477 chr10:5726468-5726478 chr10:5726467-5726478 chr10:5726466-5726479 chr10:5726467-5726476 chr10:5726464-5726479 chr10:5726468-5726478 chr10:5726470-5726479 chr10:5726467-5726477
41	TEAD4	chr10:5726181-5726921	K562	blood:	n/a	n/a
42	E2F6	chr10:5726245-5727479	K562	blood:	n/a	chr10:5726676-5726685 chr10:5726624-5726633 chr10:5726449-5726463 chr10:5726512-5726523
43	ELF1	chr10:5726302-5726944	HepG2	liver:	n/a	chr10:5726801-5726810
44	REST	chr10:5726044-5726917	A549	lung:	n/a	chr10:5726667-5726680 chr10:5726662-5726675 chr10:5726419-5726429
45	MAX	chr10:5725920-5727744	A549	lung:	n/a	chr10:5726467-5726478 chr10:5726759-5726769 chr10:5726468-5726477 chr10:5726468-5726478 chr10:5726467-5726478 chr10:5726466-5726479 chr10:5726467-5726476 chr10:5726464-5726479 chr10:5726468-5726478 chr10:5726470-5726479 chr10:5726467-5726477
46	YY1	chr10:5726367-5727027	GM12891	blood:	n/a	n/a
47	TBL1XR1	chr10:5726369-5726877	K562	blood:	n/a	n/a
48	HA-E2F1	chr10:5726188-5727840	MCF-7	breast:	n/a	chr10:5726676-5726685 chr10:5726624-5726633 chr10:5726449-5726463
49	MXI1	chr10:5726096-5728151	K562	blood:	n/a	chr10:5726467-5726476 chr10:5726469-5726478
50	POLR2A	chr10:5726318-5727752	GM12892	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:5726819-5726869	GM12878	blood:	n/a
2	chr10:5726819-5726869	AG09319	gingival:	n/a
3	chr10:5726819-5726869	MCF-7	breast:	n/a
4	chr10:5726819-5726869	Jurkat	blood:	n/a
5	chr10:5726819-5726869	AG09309	skin:	n/a
6	chr10:5726819-5726869	A549	lung:	n/a
7	chr10:5726819-5726869	GM12891	blood:	n/a
8	chr10:5726819-5726869	AG10803	skin:	n/a
9	chr10:5726819-5726869	Hepatocyte	liver:	n/a
10	chr10:5726819-5726869	HCM	heart:	n/a
11	chr10:5726819-5726869	ovcar-3	ovarian:	n/a
12	chr10:5726819-5726869	SAEC	small airway:	n/a
13	chr10:5726819-5726869	RPTEC	kidney:	n/a
14	chr10:5726819-5726869	NB4	blood:	n/a
15	chr10:5726819-5726869	SK-N-SH_RA	brain:	n/a
16	chr10:5726819-5726869	HEEpiC	esophagus:	n/a
17	chr10:5726819-5726869	T-47D	breast:	n/a
18	chr10:5726819-5726869	IMR90	lung:	fetal
19	chr10:5726819-5726869	NT2-D1	testis:	n/a
20	chr10:5726819-5726869	HCF	heart:	n/a
21	chr10:5726819-5726869	HNPCEpiC	eye:	n/a
22	chr10:5726819-5726869	Caco-2	colon:	n/a
23	chr10:5726819-5726869	SKMC	muscle:	n/a
24	chr10:5726819-5726869	HRE	kidney:	n/a
25	chr10:5726819-5726869	HRCEpiC	kidney:	n/a
26	chr10:5726819-5726869	NHBE	bronchial:	n/a
27	chr10:5726819-5726869	ProgFib	skin:	n/a
28	chr10:5726819-5726869	GM06990	blood:	n/a
29	chr10:5726819-5726869	Hela-S3	cervix:	n/a
30	chr10:5726819-5726869	HL-60	blood:	n/a
31	chr10:5726819-5726869	HEK293	kidney:	embryo
32	chr10:5726819-5726869	CMK	blood:	n/a
33	chr10:5726819-5726869	SK-N-SH	brain:	n/a
34	chr10:5726819-5726869	HUVEC	blood vessel:	n/a
35	chr10:5726819-5726869	HPAEpiC	pulmonary alveolar:	n/a
36	chr10:5726819-5726869	HMEC	breast:	n/a
37	chr10:5726819-5726869	PrEC	prostate:	n/a
38	chr10:5726819-5726869	HRPEpiC	eye:	n/a
39	chr10:5726819-5726869	HCT-116	colon:	n/a
40	chr10:5726819-5726869	LNCaP	prostate:	n/a
41	chr10:5726819-5726869	ECC-1	luminal epithelium:	n/a
42	chr10:5726819-5726869	PANC-1	pancreas:	n/a
43	chr10:5726819-5726869	HAEpiC	amniotic membrane:	n/a
44	chr10:5726819-5726869	GM12892	blood:	n/a
45	chr10:5726819-5726869	GM19239	blood:	n/a
46	chr10:5726819-5726869	HCPEpiC	choroid plexus:	n/a
47	chr10:5726819-5726869	HIPEpiC	eye:	n/a
48	chr10:5726819-5726869	MCF10A-Er-Src	breast:	n/a
49	chr10:5726819-5726869	HepG2	liver:	n/a
50	chr10:5726819-5726869	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:5487811..5491565-chr10:5724124..5727399,4	K562	blood:
2	chr10:5486978..5493668-chr10:5725151..5730020,10	MCF-7	breast:
3	chr10:5673035..5675364-chr10:5725053..5728516,4	MCF-7	breast:
4	chr10:5487109..5491565-chr10:5723765..5727399,5	K562	blood:
5	chr10:5673292..5677112-chr10:5724421..5727333,4	K562	blood:
6	chr10:5725239..5729489-chr10:5854026..5858186,8	K562	blood:
7	chr10:5725582..5728827-chr10:5752793..5758658,6	MCF-7	breast:
8	chr10:5487977..5491757-chr10:5726753..5729135,3	MCF-7	breast:
9	chr10:5725704..5728346-chr3:33480193..33482855,3	MCF-7	breast:
10	chr10:5706894..5712025-chr10:5724987..5728504,7	MCF-7	breast:
11	chr10:5725559..5728313-chr10:5930802..5933492,3	K562	blood:
12	chr10:5726410..5728417-chr10:5738015..5741917,3	MCF-7	breast:
13	chr10:5724274..5728540-chr10:5734829..5741563,8	MCF-7	breast:
14	chr10:5725503..5729426-chr10:5853777..5860412,5	MCF-7	breast:
15	chr10:5725427..5729550-chr10:5853446..5856157,4	MCF-7	breast:
16	chr10:5726775..5729176-chr10:5734287..5736106,2	MCF-7	breast:
17	chr10:5704788..5710194-chr10:5724908..5728833,8	K562	blood:
18	chr10:5725094..5729377-chr10:5927689..5933777,6	MCF-7	breast:

Variant related genes	Relation type
FAM208B	TF binding region
FAM208B	CpG island
ENSG00000057608	Chromatin interaction
ENSG00000134452	Chromatin interaction
ENSG00000108021	Chromatin interaction
ENSG00000173848	Chromatin interaction
ENSG00000196372	Chromatin interaction
ENSG00000153560	Chromatin interaction
ENSG00000240577	Chromatin interaction
ENSG00000272764	Chromatin interaction
ENSG00000134461	Chromatin interaction
ENSG00000226647	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11255072	0.81[CHD][hapmap]
rs7770	0.84[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv549895	chr10:5712310-5735648	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1796213	chr10:5716555-5766165	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv522415	chr10:5721653-5768493	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	42 gene(s)	inside rSNPs	diseases
8	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11259192	HBG2	trans	brain	seeQTL
rs11259192	HBG1	trans	brain	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5726000-5727600	Active TSS	Brain Cingulate Gyrus	brain
2	chr10:5726000-5727800	Active TSS	Brain Hippocampus Middle	brain
3	chr10:5726000-5727800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:5726000-5727800	Active TSS	Brain Substantia Nigra	brain
5	chr10:5726000-5728000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:5726000-5728000	Active TSS	Brain Angular Gyrus	brain
7	chr10:5726000-5728000	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr10:5726000-5728600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:5726000-5728800	Active TSS	A549	lung
10	chr10:5726200-5727000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr10:5726200-5727200	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr10:5726200-5727600	Active TSS	Primary T cells fromperipheralblood	blood
13	chr10:5726200-5727800	Active TSS	Fetal Brain Female	brain
14	chr10:5726200-5728000	Active TSS	Placenta Amnion	Placenta Amnion
15	chr10:5726200-5728200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:5726200-5728200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr10:5726200-5728200	Active TSS	Aorta	Aorta
18	chr10:5726200-5728200	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr10:5726200-5728200	Active TSS	Esophagus	oesophagus
20	chr10:5726200-5728200	Active TSS	Fetal Muscle Trunk	muscle
21	chr10:5726200-5728200	Active TSS	Gastric	stomach
22	chr10:5726200-5728200	Active TSS	Left Ventricle	heart
23	chr10:5726200-5728200	Active TSS	Ovary	ovary
24	chr10:5726200-5728400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:5726200-5728400	Active TSS	Colonic Mucosa	Colon
26	chr10:5726200-5728400	Active TSS	Stomach Smooth Muscle	stomach
27	chr10:5726200-5728400	Active TSS	HSMM	muscle
28	chr10:5726200-5728600	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr10:5726200-5728600	Active TSS	Psoas Muscle	Psoas
30	chr10:5726200-5728600	Active TSS	Right Atrium	heart
31	chr10:5726200-5728800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr10:5726400-5727000	Active TSS	Brain Germinal Matrix	brain
33	chr10:5726400-5727400	Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr10:5726400-5727400	Active TSS	Rectal Smooth Muscle	rectum
35	chr10:5726400-5727600	Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr10:5726400-5727600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr10:5726400-5727600	Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr10:5726400-5727600	Active TSS	Small Intestine	intestine
39	chr10:5726400-5727800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr10:5726400-5727800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:5726400-5727800	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr10:5726400-5727800	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr10:5726400-5727800	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr10:5726400-5727800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr10:5726400-5727800	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr10:5726400-5727800	Active TSS	Brain Anterior Caudate	brain
47	chr10:5726400-5727800	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr10:5726400-5727800	Active TSS	Duodenum Mucosa	Duodenum
49	chr10:5726400-5727800	Active TSS	Fetal Lung	lung
50	chr10:5726400-5727800	Active TSS	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links