Variant report

Variant	rs7120370
Chromosome Location	chr11:73849327-73849328
allele	A/C
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	NR3C1	chr11:73849256-73849419	A549	lung:	n/a	chr11:73849382-73849396 chr11:73849338-73849352
2	SP1	chr11:73849316-73850430	A549	lung:	n/a	n/a
3	FOXA1	chr11:73849002-73849441	T-47D	breast:	n/a	n/a
4	POLR2A	chr11:73849261-73850033	MCF10A-Er-Src	breast:	n/a	n/a
5	EP300	chr11:73849253-73850277	A549	lung:	n/a	chr11:73849519-73849528
6	EP300	chr11:73848948-73850041	T-47D	breast:	n/a	chr11:73849219-73849233 chr11:73849229-73849239 chr11:73849114-73849123 chr11:73849519-73849528
7	FOSL2	chr11:73848979-73850214	A549	lung:	n/a	n/a
8	TCF7L2	chr11:73849257-73850167	PANC-1	pancreas:	n/a	n/a
9	FOS	chr11:73849287-73850273	MCF10A-Er-Src	breast:	n/a	chr11:73849808-73849819
10	JUND	chr11:73849060-73850666	SK-N-SH	brain:	n/a	chr11:73849808-73849819
11	TCF12	chr11:73849060-73850829	A549	lung:	n/a	n/a
12	SRF	chr11:73849037-73849477	ECC-1	luminal epithelium:	n/a	chr11:73849253-73849268 chr11:73849255-73849266 chr11:73849254-73849267 chr11:73849252-73849269 chr11:73849254-73849265 chr11:73849256-73849267 chr11:73849252-73849270 chr11:73849256-73849265
13	MAFK	chr11:73849265-73850000	K562	blood:	n/a	chr11:73849418-73849429 chr11:73849419-73849430 chr11:73849418-73849429
14	E2F4	chr11:73849116-73849338	MCF10A-Er-Src	breast:	n/a	n/a
15	FOXM1	chr11:73849308-73850231	ECC-1	luminal epithelium:	n/a	n/a
16	EP300	chr11:73849021-73850219	A549	lung:	n/a	chr11:73849219-73849233 chr11:73849229-73849239 chr11:73849114-73849123 chr11:73849519-73849528
17	NR3C1	chr11:73849050-73849466	A549	lung:	n/a	chr11:73849382-73849396 chr11:73849338-73849352
18	BCL3	chr11:73848912-73850116	A549	lung:	n/a	n/a
19	GATA3	chr11:73849247-73850290	A549	lung:	n/a	chr11:73849735-73849744
20	ESR1	chr11:73849026-73849470	T-47D	breast:	n/a	n/a
21	FOXA1	chr11:73849133-73849476	T-47D	breast:	n/a	n/a
22	POLR2A	chr11:73849079-73850300	MCF10A-Er-Src	breast:	n/a	n/a
23	ESR1	chr11:73848935-73849440	T-47D	breast:	n/a	n/a
24	REST	chr11:73849202-73850167	A549	lung:	n/a	n/a
25	NR3C1	chr11:73849070-73849991	A549	lung:	n/a	chr11:73849382-73849396 chr11:73849338-73849352
26	GTF3C2	chr11:73849211-73849748	Hela-S3	cervix:	n/a	n/a
27	GATA3	chr11:73848986-73850051	T-47D	breast:	n/a	chr11:73849735-73849744
28	SP1	chr11:73849054-73850361	A549	lung:	n/a	n/a
29	POLR2A	chr11:73849188-73850129	IMR90	lung:	n/a	n/a
30	EP300	chr11:73849324-73850159	ECC-1	luminal epithelium:	n/a	chr11:73849519-73849528
31	NR3C1	chr11:73849123-73849515	A549	lung:	n/a	chr11:73849382-73849396 chr11:73849338-73849352
32	JUN	chr11:73849227-73849378	K562	blood:	n/a	n/a
33	JUND	chr11:73848996-73850114	T-47D	breast:	n/a	chr11:73849808-73849819
34	POLR2A	chr11:73849089-73849414	SK-N-SH	brain:	n/a	n/a
35	GATA3	chr11:73849097-73849992	T-47D	breast:	n/a	chr11:73849735-73849744

No.	Distal block	Cell Line	Cell type
1	chr11:73849175..73851405-chr11:73880732..73883222,2	MCF-7	breast:
2	chr11:73691531..73694874-chr11:73846318..73851293,5	MCF-7	breast:
3	chr11:73846193..73847795-chr11:73848289..73850687,2	MCF-7	breast:
4	chr11:73848111..73849835-chr11:73857840..73860709,2	K562	blood:
5	chr11:73847442..73850917-chr11:73851039..73854081,3	MCF-7	breast:
6	chr11:73849192..73850732-chr11:73880786..73882875,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256098	TF binding region
C2CD3	TF binding region
ENSG00000256098	Chromatin interaction
ENSG00000175567	Chromatin interaction
ENSG00000168014	Chromatin interaction
ENSG00000214517	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs34448930	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45569936	1.00[AMR][1000 genomes]
rs7113991	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7119052	1.00[AMR][1000 genomes]
rs7933802	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7946879	1.00[AMR][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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73802200-73880800	Weak transcription	Esophagus	oesophagus
2	chr11:73804000-73880800	Weak transcription	Aorta	Aorta
3	chr11:73817600-73880800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:73824400-73852400	Weak transcription	Colonic Mucosa	Colon
5	chr11:73825000-73880400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:73825800-73878600	Weak transcription	Fetal Brain Male	brain
7	chr11:73829400-73849400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:73829400-73873800	Weak transcription	Right Ventricle	heart
9	chr11:73833200-73852800	Weak transcription	Pancreas	Pancrea
10	chr11:73833400-73849600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:73838000-73849400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:73840000-73850800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:73841000-73850800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:73841200-73849600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:73841200-73850600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:73841200-73850800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr11:73841200-73851000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr11:73841400-73850800	Strong transcription	Fetal Thymus	thymus
19	chr11:73841400-73850800	Strong transcription	Dnd41	blood
20	chr11:73841400-73851800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr11:73841600-73850800	Strong transcription	Primary B cells from cord blood	blood
22	chr11:73841800-73850800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:73841800-73859800	Weak transcription	Small Intestine	intestine
24	chr11:73842200-73849600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:73842200-73850400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:73842200-73852200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:73842400-73850200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:73842600-73850200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr11:73843400-73851400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:73843400-73867200	Weak transcription	Fetal Stomach	stomach
31	chr11:73843600-73851800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr11:73844800-73850800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:73844800-73852600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr11:73844800-73858200	Weak transcription	Ovary	ovary
35	chr11:73844800-73880200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr11:73845000-73849400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:73845000-73849800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:73845800-73850600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:73846000-73849600	Weak transcription	Psoas Muscle	Psoas
40	chr11:73846000-73850800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:73846600-73850800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr11:73847200-73869800	Weak transcription	Fetal Kidney	kidney
43	chr11:73847600-73849600	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:73847600-73850200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:73847800-73849400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:73847800-73849600	Weak transcription	Adipose Nuclei	Adipose
47	chr11:73847800-73850000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:73847800-73852400	Weak transcription	Gastric	stomach
49	chr11:73847800-73866800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr11:73847800-73870800	Weak transcription	Duodenum Mucosa	Duodenum

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