Variant report

Variant	rs1790383
Chromosome Location	chr11:73846576-73846577
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr11:73846212-73846925	MCF-7	breast:	n/a	n/a
2	ZNF263	chr11:73846247-73846723	HEK293-T-REx	kidney:	n/a	n/a
3	GATA3	chr11:73846127-73847157	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr11:73846202-73846939	SK-N-SH	brain:	n/a	n/a
5	EP300	chr11:73846120-73846960	A549	lung:	n/a	n/a
6	GATA3	chr11:73846219-73847107	MCF-7	breast:	n/a	n/a
7	REST	chr11:73846279-73846734	MCF-7	breast:	n/a	n/a
8	FOSL2	chr11:73846043-73846663	A549	lung:	n/a	n/a
9	PBX3	chr11:73846201-73846769	SK-N-SH	brain:	n/a	n/a
10	FOSL2	chr11:73846127-73846746	SK-N-SH	brain:	n/a	n/a
11	GATA3	chr11:73846213-73847066	SK-N-SH	brain:	n/a	n/a
12	EP300	chr11:73846097-73846734	A549	lung:	n/a	n/a
13	KAP1	chr11:73846193-73847042	U2OS	brain:	n/a	n/a
14	REST	chr11:73846277-73846580	MCF-7	breast:	n/a	n/a
15	NR2F2	chr11:73846230-73846746	MCF-7	breast:	n/a	n/a
16	SETDB1	chr11:73846136-73846669	U2OS	brain:	n/a	n/a
17	KAP1	chr11:73846163-73846920	HEK293	kidney:	n/a	n/a
18	SP1	chr11:73846210-73847029	HCT-116	colon:	n/a	n/a
19	EP300	chr11:73846145-73846874	SK-N-SH	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73721341..73724009-chr11:73846427..73849046,2	K562	blood:
2	chr11:73781184..73783085-chr11:73845837..73847589,2	MCF-7	breast:
3	chr11:73846193..73847795-chr11:73848289..73850687,2	MCF-7	breast:
4	chr11:73691531..73694874-chr11:73846318..73851293,5	MCF-7	breast:

No data

Variant related genes	Relation type
C2CD3	TF binding region
ENSG00000175567	Chromatin interaction
ENSG00000168014	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10898966	1.00[YRI][hapmap]
rs1095419	0.83[AFR][1000 genomes]
rs1095420	0.83[AFR][1000 genomes]
rs1095421	0.86[AFR][1000 genomes]
rs1095423	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1095426	1.00[AMR][1000 genomes]
rs1095428	0.80[AFR][1000 genomes]
rs12285706	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12286971	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12291461	0.83[YRI][hapmap]
rs1632245	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1685342	0.96[YRI][hapmap];1.00[AMR][1000 genomes]
rs1685343	0.83[YRI][hapmap]
rs1726742	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1726755	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1726756	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs1790402	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1790408	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1790409	1.00[YRI][hapmap]
rs1944971	1.00[YRI][hapmap]
rs28604496	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2950412	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs3741133	0.95[YRI][hapmap]
rs826032	0.83[AFR][1000 genomes]
rs826034	0.83[AFR][1000 genomes]
rs826036	0.83[AFR][1000 genomes]
rs826037	0.85[AFR][1000 genomes]
rs826038	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs826040	0.83[AFR][1000 genomes]
rs826041	0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs826043	0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs826045	0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs826046	0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs826047	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs826049	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs826052	0.83[AFR][1000 genomes]
rs826053	0.83[AFR][1000 genomes]
rs826070	0.92[YRI][hapmap]
rs826074	0.96[YRI][hapmap];1.00[AMR][1000 genomes]
rs826076	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs826077	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs826084	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs826086	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs826088	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs826090	0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs861144	0.83[AFR][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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73781800-73849200	Weak transcription	Stomach Mucosa	stomach
2	chr11:73802200-73880800	Weak transcription	Esophagus	oesophagus
3	chr11:73804000-73880800	Weak transcription	Aorta	Aorta
4	chr11:73809800-73847200	Weak transcription	HepG2	liver
5	chr11:73812000-73849000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:73817200-73846800	Weak transcription	Spleen	Spleen
7	chr11:73817600-73849200	Weak transcription	NHLF	lung
8	chr11:73817600-73880800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:73824400-73852400	Weak transcription	Colonic Mucosa	Colon
10	chr11:73824600-73846800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:73825000-73880400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:73825600-73846600	Weak transcription	K562	blood
13	chr11:73825600-73847400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:73825800-73878600	Weak transcription	Fetal Brain Male	brain
15	chr11:73829400-73846600	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:73829400-73849400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:73829400-73873800	Weak transcription	Right Ventricle	heart
18	chr11:73833200-73852800	Weak transcription	Pancreas	Pancrea
19	chr11:73833400-73847200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:73833400-73849600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:73833600-73849000	Weak transcription	Fetal Heart	heart
22	chr11:73833800-73849200	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:73838000-73849400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:73840000-73850800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:73841000-73850800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:73841200-73847600	Strong transcription	Fetal Muscle Leg	muscle
27	chr11:73841200-73849600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:73841200-73850600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:73841200-73850800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr11:73841200-73851000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr11:73841400-73848400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:73841400-73850800	Strong transcription	Fetal Thymus	thymus
33	chr11:73841400-73850800	Strong transcription	Dnd41	blood
34	chr11:73841400-73851800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr11:73841600-73849000	Strong transcription	HSMM	muscle
36	chr11:73841600-73850800	Strong transcription	Primary B cells from cord blood	blood
37	chr11:73841800-73850800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:73841800-73859800	Weak transcription	Small Intestine	intestine
39	chr11:73842000-73848000	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:73842200-73848400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:73842200-73849600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:73842200-73850400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:73842200-73852200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:73842400-73850200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:73842600-73847800	Strong transcription	Fetal Lung	lung
46	chr11:73842600-73848000	Strong transcription	Primary T cells from cord blood	blood
47	chr11:73842600-73848000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:73842600-73850200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr11:73843200-73847800	Strong transcription	Left Ventricle	heart
50	chr11:73843400-73847200	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links