Variant report

Variant	rs4149823
Chromosome Location	chr11:65084640-65084641
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	POLR2A	chr11:65084449-65084899	HCT-116	colon:	n/a	n/a
2	FOS	chr11:65083995-65084706	MCF10A-Er-Src	breast:	n/a	n/a
3	SMC3	chr11:65083958-65084786	Hela-S3	cervix:	n/a	n/a
4	MAFK	chr11:65084092-65085200	Hela-S3	cervix:	n/a	chr11:65085058-65085073
5	SIN3A	chr11:65084074-65084827	H1-hESC	embryonic stem cell:	n/a	chr11:65084419-65084432
6	STAT3	chr11:65084542-65084800	MCF10A-Er-Src	breast:	n/a	chr11:65084617-65084629
7	TEAD4	chr11:65084339-65084865	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr11:65084623-65084652	MCF-7	breast:	n/a	n/a
9	MXI1	chr11:65081576-65084865	SK-N-SH	brain:	n/a	n/a
10	ZBTB7A	chr11:65084250-65085003	ECC-1	luminal epithelium:	n/a	n/a
11	MXI1	chr11:65083823-65084783	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:65081960-65084648	IMR90	lung:	n/a	n/a
13	CTBP2	chr11:65084190-65084743	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD1	chr11:65081648-65085415	IMR90	lung:	n/a	chr11:65082498-65082508 chr11:65083316-65083326 chr11:65082488-65082498 chr11:65084855-65084865 chr11:65084802-65084812
15	JUND	chr11:65084448-65084741	H1-hESC	embryonic stem cell:	n/a	n/a
16	FOS	chr11:65084252-65085446	HUVEC	blood vessel:	n/a	chr11:65084860-65084869
17	MXI1	chr11:65084492-65084713	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr11:65084352-65084857	ECC-1	luminal epithelium:	n/a	n/a
19	TCF7L2	chr11:65084110-65084726	Hela-S3	cervix:	n/a	n/a
20	STAT3	chr11:65084482-65084833	MCF10A-Er-Src	breast:	n/a	chr11:65084617-65084629
21	POLR2A	chr11:65084508-65085221	K562	blood:	n/a	n/a
22	POLR2A	chr11:65083834-65085135	HUVEC	blood vessel:	n/a	n/a
23	MAX	chr11:65084385-65084826	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr11:65084473-65084774	MCF10A-Er-Src	breast:	n/a	n/a
25	BACH1	chr11:65084247-65084799	H1-hESC	embryonic stem cell:	n/a	n/a
26	ELK1	chr11:65084540-65084732	Hela-S3	cervix:	n/a	n/a
27	MAX	chr11:65083840-65084765	Hela-S3	cervix:	n/a	chr11:65084019-65084029
28	POLR2A	chr11:65084440-65084814	U87	brain:	n/a	n/a
29	ELK4	chr11:65084619-65084739	Hela-S3	cervix:	n/a	n/a
30	MXI1	chr11:65081718-65085317	IMR90	lung:	n/a	n/a
31	POLR2A	chr11:65084026-65085069	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr11:65081784-65085198	HUVEC	blood vessel:	n/a	n/a
33	MAX	chr11:65084384-65084823	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr11:65083906-65084706	IMR90	lung:	n/a	chr11:65084206-65084217
35	MAX	chr11:65083814-65084865	ECC-1	luminal epithelium:	n/a	chr11:65084019-65084029
36	YY1	chr11:65084535-65084801	HCT-116	colon:	n/a	n/a
37	TCF12	chr11:65084085-65085032	ECC-1	luminal epithelium:	n/a	chr11:65084551-65084559
38	YY1	chr11:65084459-65084891	ECC-1	luminal epithelium:	n/a	chr11:65084803-65084814
39	STAT3	chr11:65084067-65084837	MCF10A-Er-Src	breast:	n/a	chr11:65084218-65084226 chr11:65084617-65084629
40	POLR2A	chr11:65084562-65085076	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:65084425-65084844	HCT-116	colon:	n/a	n/a
42	MAZ	chr11:65081766-65085364	IMR90	lung:	n/a	chr11:65085118-65085128 chr11:65084880-65084890 chr11:65082096-65082105 chr11:65081854-65081863 chr11:65082895-65082905
43	RFX5	chr11:65083879-65084786	Hela-S3	cervix:	n/a	n/a
44	MYC	chr11:65083846-65084766	MCF10A-Er-Src	breast:	n/a	chr11:65084019-65084029
45	POLR2A	chr11:65083858-65084707	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr11:65084304-65084824	HUVEC	blood vessel:	n/a	n/a
47	MYC	chr11:65084225-65085018	HUVEC	blood vessel:	n/a	chr11:65084880-65084890
48	POLR2A	chr11:65081948-65084785	Hela-S3	cervix:	n/a	n/a
49	GATA2	chr11:65084398-65084890	HUVEC	blood vessel:	n/a	n/a
50	STAT3	chr11:65084540-65084806	MCF10A-Er-Src	breast:	n/a	chr11:65084617-65084629

No.	Distal block	Cell Line	Cell type
1	chr11:65082224..65084911-chr11:65099875..65102878,3	K562	blood:
2	chr11:65084600..65086404-chr11:65120200..65124254,3	MCF-7	breast:
3	chr11:65049333..65051598-chr11:65082376..65084933,2	K562	blood:
4	chr11:65081201..65083940-chr11:65084529..65087415,2	K562	blood:
5	chr11:65082396..65084824-chr11:65098924..65101432,3	MCF-7	breast:
6	chr11:65082453..65085480-chr11:65264257..65268362,4	K562	blood:
7	chr11:65045088..65048799-chr11:65081591..65084821,5	MCF-7	breast:
8	chr11:65028586..65031401-chr11:65080311..65084684,5	MCF-7	breast:
9	chr11:65081241..65085742-chr11:65099388..65103053,6	MCF-7	breast:

Variant related genes	Relation type
CDC42EP2	TF binding region
ENSG00000133884	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000173825	Chromatin interaction
ENSG00000149798	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000270117	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1152621	1.00[EUR][1000 genomes]
rs11823327	1.00[EUR][1000 genomes]
rs11826426	1.00[EUR][1000 genomes]
rs11826954	1.00[EUR][1000 genomes]
rs1194339	1.00[EUR][1000 genomes]
rs17146805	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1784102	1.00[EUR][1000 genomes]
rs1784221	1.00[EUR][1000 genomes]
rs1939938	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs2307266	1.00[EUR][1000 genomes]
rs34286323	1.00[EUR][1000 genomes]
rs4149824	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4149828	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs4149835	1.00[EUR][1000 genomes]
rs4149839	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4647581	1.00[EUR][1000 genomes]
rs4647583	1.00[EUR][1000 genomes]
rs4647585	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs4647598	1.00[EUR][1000 genomes]
rs57267799	1.00[AFR][1000 genomes]
rs58771438	1.00[EUR][1000 genomes]
rs59598510	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59646878	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60315122	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61072220	1.00[EUR][1000 genomes]
rs61502141	1.00[EUR][1000 genomes]
rs73482220	1.00[EUR][1000 genomes]
rs73482248	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482250	1.00[EUR][1000 genomes]
rs73482254	1.00[EUR][1000 genomes]
rs73482257	1.00[EUR][1000 genomes]
rs73482268	1.00[EUR][1000 genomes]
rs73482938	1.00[EUR][1000 genomes]
rs73482957	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482959	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482962	1.00[EUR][1000 genomes]
rs73482972	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482975	1.00[EUR][1000 genomes]
rs73484340	1.00[EUR][1000 genomes]
rs73484344	1.00[EUR][1000 genomes]
rs73484345	1.00[EUR][1000 genomes]
rs73484944	1.00[EUR][1000 genomes]
rs73484950	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484954	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484963	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484966	1.00[AFR][1000 genomes]
rs73484971	1.00[EUR][1000 genomes]
rs73484972	1.00[EUR][1000 genomes]
rs73484981	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484989	0.90[AFR][1000 genomes]
rs769438	1.00[YRI][hapmap]
rs769439	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
4	nsv897714	chr11:65076918-65091609	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription 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	16 gene(s)	inside rSNPs	diseases
5	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
6	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65079200-65085400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:65081400-65084800	Active TSS	Lung	lung
3	chr11:65081400-65084800	Active TSS	Right Ventricle	heart
4	chr11:65081400-65085000	Active TSS	Right Atrium	heart
5	chr11:65081400-65085000	Active TSS	NHLF	lung
6	chr11:65081400-65085400	Active TSS	NHDF-Ad	bronchial
7	chr11:65081600-65085000	Active TSS	Fetal Kidney	kidney
8	chr11:65081600-65085000	Active TSS	Left Ventricle	heart
9	chr11:65081800-65085000	Active TSS	Psoas Muscle	Psoas
10	chr11:65082000-65085000	Active TSS	HSMMtube	muscle
11	chr11:65082000-65085200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:65082600-65084800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr11:65082600-65084800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr11:65082600-65085200	Enhancers	Fetal Brain Male	brain
15	chr11:65082800-65084800	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr11:65083200-65084800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:65083200-65084800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:65083200-65084800	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr11:65083200-65084800	Flanking Active TSS	NH-A	brain
20	chr11:65083200-65085200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:65083200-65085200	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr11:65083200-65093400	Weak transcription	Aorta	Aorta
23	chr11:65083400-65084800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr11:65083400-65084800	Flanking Active TSS	Fetal Intestine Large	intestine
25	chr11:65083400-65084800	Flanking Active TSS	A549	lung
26	chr11:65083400-65085000	Flanking Active TSS	Fetal Brain Female	brain
27	chr11:65083400-65085000	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr11:65083400-65085000	Flanking Active TSS	Ovary	ovary
29	chr11:65083400-65085000	Flanking Active TSS	HepG2	liver
30	chr11:65083400-65085200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:65083400-65085200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr11:65083400-65085200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr11:65083400-65085200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:65083400-65085200	Flanking Active TSS	Hela-S3	cervix
35	chr11:65083400-65085200	Flanking Active TSS	HMEC	breast
36	chr11:65083400-65085200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr11:65083400-65085200	Flanking Active TSS	Osteobl	bone
38	chr11:65083400-65085400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:65083400-65085400	Flanking Active TSS	HUVEC	blood vessel
40	chr11:65083400-65085400	Flanking Active TSS	NHEK	skin
41	chr11:65083400-65087800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:65083600-65084800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:65083600-65085000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:65083600-65085000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr11:65083600-65085000	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr11:65083600-65085200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:65083600-65085200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:65083600-65085200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:65083600-65085200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr11:65083600-65085200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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