Variant report

Variant	rs1723842
Chromosome Location	chr11:73471385-73471386
allele	C/T
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	TAF1	chr11:73471289-73472491	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:73471019-73471826	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr11:73471272-73472691	MCF-7	breast:	n/a	n/a
5	SMARCC2	chr11:73470819-73472072	Hela-S3	cervix:	n/a	n/a
6	TAF1	chr11:73470672-73471543	H1-neurons	neurons:	n/a	n/a
7	YY1	chr11:73471265-73471515	K562	blood:	n/a	chr11:73471369-73471377
8	POLR2A	chr11:73471176-73471521	HCT-116	colon:	n/a	n/a
9	RCOR1	chr11:73471201-73472847	Hela-S3	cervix:	n/a	n/a
10	CHD1	chr11:73470175-73472986	IMR90	lung:	n/a	n/a
11	MAZ	chr11:73471147-73472802	Hela-S3	cervix:	n/a	n/a
12	CCNT2	chr11:73471357-73471707	K562	blood:	n/a	n/a
13	POLR2A	chr11:73471255-73472608	A549	lung:	n/a	n/a
14	RFX5	chr11:73471349-73471524	Hela-S3	cervix:	n/a	n/a
15	ETS1	chr11:73471363-73472688	A549	lung:	n/a	chr11:73471551-73471562 chr11:73471763-73471774 chr11:73472091-73472102 chr11:73471857-73471868
16	YY1	chr11:73471164-73472828	HepG2	liver:	n/a	chr11:73472091-73472102 chr11:73471693-73471707 chr11:73471698-73471707 chr11:73472091-73472100 chr11:73471851-73471865 chr11:73471858-73471872 chr11:73471857-73471866 chr11:73471855-73471869 chr11:73471852-73471866 chr11:73471369-73471377 chr11:73472086-73472100 chr11:73472092-73472106 chr11:73471698-73471712
17	POLR2A	chr11:73470933-73471414	K562	blood:	n/a	n/a
18	MAX	chr11:73471127-73471693	A549	lung:	n/a	n/a
19	MYC	chr11:73471190-73471390	NB4	blood:	n/a	n/a
20	TAF1	chr11:73470943-73472910	H1-hESC	embryonic stem cell:	n/a	n/a
21	TAF1	chr11:73470844-73472894	H1-neurons	neurons:	n/a	n/a
22	UBTF	chr11:73470713-73472429	K562	blood:	n/a	n/a
23	JUND	chr11:73471298-73471724	A549	lung:	n/a	n/a
24	GATA3	chr11:73471149-73471583	T-47D	breast:	n/a	n/a
25	MTA3	chr11:73470749-73471714	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:73470919-73472822	HUVEC	blood vessel:	n/a	n/a
27	BACH1	chr11:73470757-73471604	H1-hESC	embryonic stem cell:	n/a	n/a
28	NFIC	chr11:73471145-73471769	ECC-1	luminal epithelium:	n/a	n/a
29	MAZ	chr11:73470841-73472957	IMR90	lung:	n/a	n/a
30	ELF1	chr11:73471229-73471650	K562	blood:	n/a	n/a
31	MAX	chr11:73471248-73471485	K562	blood:	n/a	n/a
32	POLR2A	chr11:73471306-73471499	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZBTB7A	chr11:73470914-73471640	ECC-1	luminal epithelium:	n/a	n/a
34	REST	chr11:73470122-73473031	H1-neurons	neurons:	n/a	chr11:73472243-73472252 chr11:73472016-73472029
35	TCF12	chr11:73471177-73471616	ECC-1	luminal epithelium:	n/a	chr11:73471576-73471583
36	ELF1	chr11:73471065-73472657	GM12878	blood:	n/a	chr11:73472087-73472099 chr11:73472090-73472102 chr11:73471700-73471712 chr11:73472091-73472100 chr11:73471857-73471866 chr11:73472093-73472105
37	POLR2A	chr11:73470590-73471859	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr11:73470904-73472490	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr11:73470795-73472825	PFSK-1	brain:	n/a	n/a
40	POLR2A	chr11:73471141-73472789	K562	blood:	n/a	n/a
41	MAZ	chr11:73471147-73471574	GM12878	blood:	n/a	n/a
42	YY1	chr11:73471336-73471852	GM12892	blood:	n/a	chr11:73471693-73471707 chr11:73471698-73471707 chr11:73471369-73471377 chr11:73471698-73471712
43	CHD2	chr11:73471334-73471641	GM12878	blood:	n/a	n/a
44	YY1	chr11:73471169-73471597	K562	blood:	n/a	chr11:73471369-73471377
45	SIN3AK20	chr11:73470785-73472572	PANC-1	pancreas:	n/a	n/a
46	SIN3A	chr11:73470333-73472837	H1-hESC	embryonic stem cell:	n/a	chr11:73472396-73472407
47	STAT3	chr11:73471366-73471564	MCF10A-Er-Src	breast:	n/a	chr11:73471480-73471492
48	UBTF	chr11:73471132-73472302	K562	blood:	n/a	n/a
49	POLR2A	chr11:73471352-73472585	GM12878	blood:	n/a	n/a
50	MXI1	chr11:73470216-73472687	IMR90	lung:	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	chr11:67350990..67351715-chr11:73471305..73472071,2	NB4	blood:
9	chr11:73471168..73471692-chr2:85581089..85581758,2	Hela-S3	cervix:
10	chr11:73470670..73473023-chr8:128747160..128749276,2	MCF-7	breast:

Variant related genes	Relation type
RAB6A	TF binding region
ENSG00000256034	TF binding region
ENSG00000021300	Chromatin interaction
ENSG00000175581	Chromatin interaction
ENSG00000084207	Chromatin interaction
ENSG00000181924	Chromatin interaction
ENSG00000136997	Chromatin interaction
ENSG00000042445	Chromatin interaction
ENSG00000115459	Chromatin interaction
ENSG00000175575	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10898944	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11235903	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12293194	0.86[AFR][1000 genomes]
rs1525750	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1525751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1621654	0.89[AFR][1000 genomes]
rs1624231	0.88[AMR][1000 genomes]
rs1670548	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1723834	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1723838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1723839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1723844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1723845	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1723846	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1723849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1792157	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1792195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1792196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1880642	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1880643	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1976914	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2037706	0.81[EUR][1000 genomes]
rs2037709	0.92[EUR][1000 genomes]
rs2056649	0.96[EUR][1000 genomes]
rs2366944	0.92[EUR][1000 genomes]
rs2444600	0.82[AFR][1000 genomes]
rs2462617	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2511263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511269	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2515091	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4548648	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4551800	0.83[AFR][1000 genomes]
rs4944026	0.92[EUR][1000 genomes]
rs4944027	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4944030	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4944854	0.81[EUR][1000 genomes]
rs4944857	0.92[EUR][1000 genomes]
rs4944859	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4944860	0.96[EUR][1000 genomes]
rs4944864	0.90[EUR][1000 genomes]
rs4944865	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6592528	0.81[EUR][1000 genomes]
rs6592529	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7396121	0.92[EUR][1000 genomes]
rs7942515	0.92[EUR][1000 genomes]
rs7950472	0.86[AFR][1000 genomes]
rs940831	0.92[EUR][1000 genomes]
rs9634024	0.90[AFR][1000 genomes];0.96[EUR][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	chr11:73469400-73472600	Active TSS	HMEC	breast
6	chr11:73469400-73472600	Active TSS	NHLF	lung
7	chr11:73469400-73473000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr11:73469600-73471400	Active TSS	Right Atrium	heart
9	chr11:73469600-73472600	Active TSS	HSMMtube	muscle
10	chr11:73469600-73472800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:73469600-73473000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:73469800-73472200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr11:73469800-73472400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:73469800-73472600	Active TSS	Fetal Intestine Large	intestine
15	chr11:73469800-73473000	Active TSS	HSMM	muscle
16	chr11:73470000-73472200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:73470000-73472600	Active TSS	Fetal Intestine Small	intestine
18	chr11:73470000-73472800	Active TSS	Psoas Muscle	Psoas
19	chr11:73470000-73473000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:73470000-73473000	Active TSS	Brain Angular Gyrus	brain
21	chr11:73470200-73471400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:73470200-73472600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:73470200-73472600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:73470200-73472600	Active TSS	Muscle Satellite Cultured Cells	--
25	chr11:73470200-73472600	Active TSS	Fetal Muscle Leg	muscle
26	chr11:73470200-73472600	Active TSS	Placenta	Placenta
27	chr11:73470200-73472600	Active TSS	Fetal Stomach	stomach
28	chr11:73470200-73472600	Active TSS	Stomach Mucosa	stomach
29	chr11:73470200-73472800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:73470200-73472800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:73470200-73472800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr11:73470200-73472800	Active TSS	Aorta	Aorta
33	chr11:73470200-73472800	Active TSS	Fetal Brain Female	brain
34	chr11:73470200-73472800	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr11:73470200-73472800	Active TSS	Ovary	ovary
36	chr11:73470200-73472800	Active TSS	Right Ventricle	heart
37	chr11:73470200-73472800	Active TSS	NHDF-Ad	bronchial
38	chr11:73470200-73473000	Active TSS	H9 Cell Line	embryonic stem cell
39	chr11:73470200-73473000	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr11:73470200-73473000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:73470200-73473000	Active TSS	Colonic Mucosa	Colon
42	chr11:73470400-73471400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr11:73470400-73471400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr11:73470400-73471400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:73470400-73471400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:73470400-73471600	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr11:73470400-73471800	Active TSS	Fetal Brain Male	brain
48	chr11:73470400-73472600	Active TSS	NH-A	brain
49	chr11:73470400-73472800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:73470400-73472800	Active TSS	Rectal Mucosa Donor 29	rectum

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