Variant report

Variant	rs73539614
Chromosome Location	chr11:73470933-73470934
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	MAX	chr11:73470752-73471799	A549	lung:	n/a	n/a
2	CTCF	chr11:73470800-73470950	GM12864	blood:	n/a	n/a
3	CTCF	chr11:73470880-73471030	A549	lung:	n/a	n/a
4	SMARCC2	chr11:73470819-73472072	Hela-S3	cervix:	n/a	n/a
5	EBF1	chr11:73470928-73471282	GM12878	blood:	n/a	chr11:73471124-73471135
6	TAF1	chr11:73470672-73471543	H1-neurons	neurons:	n/a	n/a
7	CHD1	chr11:73470175-73472986	IMR90	lung:	n/a	n/a
8	STAT5A	chr11:73470810-73471293	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:73470933-73471414	K562	blood:	n/a	n/a
10	TAF1	chr11:73470844-73472894	H1-neurons	neurons:	n/a	n/a
11	UBTF	chr11:73470713-73472429	K562	blood:	n/a	n/a
12	MTA3	chr11:73470749-73471714	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:73470919-73472822	HUVEC	blood vessel:	n/a	n/a
14	BACH1	chr11:73470757-73471604	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAZ	chr11:73470841-73472957	IMR90	lung:	n/a	n/a
16	ZBTB7A	chr11:73470914-73471640	ECC-1	luminal epithelium:	n/a	n/a
17	REST	chr11:73470122-73473031	H1-neurons	neurons:	n/a	chr11:73472243-73472252 chr11:73472016-73472029
18	POLR2A	chr11:73470590-73471859	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr11:73470904-73472490	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr11:73470795-73472825	PFSK-1	brain:	n/a	n/a
21	BRCA1	chr11:73470359-73470979	Hela-S3	cervix:	n/a	n/a
22	SIN3AK20	chr11:73470785-73472572	PANC-1	pancreas:	n/a	n/a
23	SIN3A	chr11:73470333-73472837	H1-hESC	embryonic stem cell:	n/a	chr11:73472396-73472407
24	MXI1	chr11:73470216-73472687	IMR90	lung:	n/a	n/a
25	MAFK	chr11:73470718-73471134	K562	blood:	n/a	n/a
26	MAFK	chr11:73470119-73471231	Hela-S3	cervix:	n/a	chr11:73470254-73470263 chr11:73470249-73470264 chr11:73470256-73470266
27	RFX5	chr11:73470024-73472873	SK-N-SH	brain:	n/a	chr11:73472384-73472393
28	SIN3AK20	chr11:73470669-73472894	MCF-7	breast:	n/a	n/a
29	POLR2A	chr11:73470692-73472522	IMR90	lung:	n/a	n/a
30	RAD21	chr11:73470600-73471229	IMR90	lung:	n/a	n/a
31	EBF1	chr11:73470890-73471327	GM12878	blood:	n/a	chr11:73471124-73471135
32	MAX	chr11:73470656-73472760	Hela-S3	cervix:	n/a	n/a
33	RAD21	chr11:73470569-73470955	Hela-S3	cervix:	n/a	n/a
34	CHD1	chr11:73470727-73472496	GM12878	blood:	n/a	n/a
35	SMC3	chr11:73470191-73472766	Hela-S3	cervix:	n/a	chr11:73472313-73472327 chr11:73471462-73471476
36	MXI1	chr11:73470057-73472970	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr11:73470567-73472958	H1-neurons	neurons:	n/a	n/a
38	SMARCC1	chr11:73470773-73472830	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:73470859-73472738	Hela-S3	cervix:	n/a	n/a
40	MAX	chr11:73470930-73471493	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr11:73470928-73472925	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr11:73470807-73472910	HUVEC	blood vessel:	n/a	n/a
43	MYC	chr11:73470925-73471133	K562	blood:	n/a	n/a
44	CTCF	chr11:73470660-73470950	GM12875	blood:	n/a	n/a
45	MAZ	chr11:73470844-73472803	K562	blood:	n/a	n/a
46	POLR2A	chr11:73470901-73471604	SK-N-SH	brain:	n/a	n/a
47	REST	chr11:73470397-73471469	H1-neurons	neurons:	n/a	n/a
48	ZKSCAN1	chr11:73470036-73470956	Hela-S3	cervix:	n/a	n/a
49	MXI1	chr11:73470651-73470938	Hela-S3	cervix:	n/a	n/a
50	HCFC1	chr11:73469159-73472987	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73469206..73473775-chr11:73494297..73499248,5	K562	blood:
2	chr11:73470519..73472838-chr11:73586575..73589489,2	MCF-7	breast:
3	chr11:73470660..73473982-chr11:73497982..73500813,6	MCF-7	breast:
4	chr11:73466132..73474322-chr11:73488493..73499248,27	K562	blood:
5	chr11:73371264..73374255-chr11:73470720..73472543,3	MCF-7	breast:
6	chr11:73470211..73473572-chr11:73496692..73501846,8	MCF-7	breast:
7	chr11:73371858..73374878-chr11:73470388..73473197,3	MCF-7	breast:
8	chr11:73470670..73473023-chr8:128747160..128749276,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256034	TF binding region
ENSG00000181924	Chromatin interaction
ENSG00000175575	Chromatin interaction
ENSG00000175581	Chromatin interaction
ENSG00000136997	Chromatin interaction
ENSG00000021300	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs60280112	1.00[AFR][1000 genomes]
rs61261739	0.89[AFR][1000 genomes]
rs61565381	1.00[AFR][1000 genomes]
rs71479539	1.00[AFR][1000 genomes]
rs73536630	0.89[AFR][1000 genomes]
rs73538610	1.00[AFR][1000 genomes]
rs73538615	1.00[AFR][1000 genomes]
rs73538626	1.00[AFR][1000 genomes]
rs73538638	1.00[AFR][1000 genomes]
rs73539611	1.00[AFR][1000 genomes]
rs73539616	1.00[AFR][1000 genomes]
rs73546552	1.00[AFR][1000 genomes]
rs73546567	1.00[AFR][1000 genomes]
rs73546575	1.00[AFR][1000 genomes]
rs73546602	1.00[AFR][1000 genomes]
rs73548311	1.00[AFR][1000 genomes]
rs73548314	1.00[AFR][1000 genomes]
rs73548345	1.00[AFR][1000 genomes]

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	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer 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 target site	47 gene(s)	inside rSNPs	diseases
5	nsv897912	chr11:73436008-73477045	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73468400-73471400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:73469000-73472800	Active TSS	GM12878-XiMat	blood
3	chr11:73469200-73472800	Active TSS	H1 Cell Line	embryonic stem cell
4	chr11:73469200-73472800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:73469400-73471200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:73469400-73472600	Active TSS	HMEC	breast
7	chr11:73469400-73472600	Active TSS	NHLF	lung
8	chr11:73469400-73473000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:73469600-73471000	Flanking Active TSS	Liver	Liver
10	chr11:73469600-73471000	Flanking Active TSS	Brain Cingulate Gyrus	brain
11	chr11:73469600-73471000	Active TSS	Brain Germinal Matrix	brain
12	chr11:73469600-73471000	Flanking Active TSS	Dnd41	blood
13	chr11:73469600-73471000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr11:73469600-73471200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:73469600-73471400	Active TSS	Right Atrium	heart
16	chr11:73469600-73472600	Active TSS	HSMMtube	muscle
17	chr11:73469600-73472800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:73469600-73473000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:73469800-73471200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr11:73469800-73472200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr11:73469800-73472400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:73469800-73472600	Active TSS	Fetal Intestine Large	intestine
23	chr11:73469800-73473000	Active TSS	HSMM	muscle
24	chr11:73470000-73471000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr11:73470000-73471000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr11:73470000-73471000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr11:73470000-73471200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:73470000-73471200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:73470000-73471200	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr11:73470000-73472200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:73470000-73472600	Active TSS	Fetal Intestine Small	intestine
32	chr11:73470000-73472800	Active TSS	Psoas Muscle	Psoas
33	chr11:73470000-73473000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:73470000-73473000	Active TSS	Brain Angular Gyrus	brain
35	chr11:73470200-73471000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr11:73470200-73471200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr11:73470200-73471400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:73470200-73472600	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr11:73470200-73472600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:73470200-73472600	Active TSS	Muscle Satellite Cultured Cells	--
41	chr11:73470200-73472600	Active TSS	Fetal Muscle Leg	muscle
42	chr11:73470200-73472600	Active TSS	Placenta	Placenta
43	chr11:73470200-73472600	Active TSS	Fetal Stomach	stomach
44	chr11:73470200-73472600	Active TSS	Stomach Mucosa	stomach
45	chr11:73470200-73472800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:73470200-73472800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:73470200-73472800	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr11:73470200-73472800	Active TSS	Aorta	Aorta
49	chr11:73470200-73472800	Active TSS	Fetal Brain Female	brain
50	chr11:73470200-73472800	Active TSS	Pancreatic Islets	Pancreatic Islet

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