Variant report

Variant	rs34281218
Chromosome Location	chr11:75063517-75063518
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	CTCF	chr11:75063400-75063550	BE2_C	brain:	n/a	chr11:75063462-75063471 chr11:75063459-75063477
2	TRIM28	chr11:75063249-75063691	K562	blood:	n/a	n/a
3	MXI1	chr11:75061581-75063894	IMR90	lung:	n/a	n/a
4	CTCF	chr11:75063260-75063681	K562	blood:	n/a	chr11:75063462-75063471 chr11:75063459-75063477
5	POLR2A	chr11:75062281-75063713	K562	blood:	n/a	n/a
6	CTCF	chr11:75063420-75063570	GM12873	blood:	n/a	chr11:75063462-75063471 chr11:75063459-75063477
7	REST	chr11:75063446-75063719	H1-hESC	embryonic stem cell:	n/a	chr11:75063561-75063581 chr11:75063562-75063580 chr11:75063581-75063594 chr11:75063561-75063581 chr11:75063561-75063581
8	SPI1	chr11:75063112-75063766	HL-60	blood:	n/a	chr11:75063527-75063540 chr11:75063492-75063499 chr11:75063491-75063500
9	REST	chr11:75063277-75063680	SK-N-SH	brain:	n/a	chr11:75063561-75063581 chr11:75063562-75063580 chr11:75063581-75063594 chr11:75063561-75063581 chr11:75063561-75063581
10	REST	chr11:75063285-75063745	A549	lung:	n/a	chr11:75063561-75063581 chr11:75063562-75063580 chr11:75063581-75063594 chr11:75063561-75063581 chr11:75063561-75063581
11	CTCF	chr11:75063320-75063570	GM06990	blood:	n/a	chr11:75063462-75063471 chr11:75063459-75063477
12	MAFK	chr11:75063108-75063571	K562	blood:	n/a	n/a
13	POLR2A	chr11:75061938-75063689	HepG2	liver:	n/a	n/a
14	TAF1	chr11:75063185-75063663	K562	blood:	n/a	n/a
15	POLR2A	chr11:75062913-75063640	GM12878	blood:	n/a	n/a
16	E2F4	chr11:75061989-75063690	K562	blood:	n/a	chr11:75062918-75062927
17	REST	chr11:75062794-75063917	HL-60	blood:	n/a	chr11:75063561-75063581 chr11:75063562-75063580 chr11:75063581-75063594 chr11:75062832-75062842 chr11:75063561-75063581 chr11:75063561-75063581
18	YY1	chr11:75063174-75063562	K562	blood:	n/a	chr11:75063255-75063269 chr11:75063407-75063416
19	MAX	chr11:75061600-75063828	HepG2	liver:	n/a	chr11:75061617-75061627 chr11:75062456-75062466 chr11:75061834-75061844
20	MYC	chr11:75061690-75063690	K562	blood:	n/a	chr11:75062456-75062466 chr11:75061834-75061844
21	RAD21	chr11:75063270-75063618	SK-N-SH_RA	brain:	n/a	chr11:75063528-75063540 chr11:75063468-75063482 chr11:75063460-75063479 chr11:75063461-75063475
22	MBD4	chr11:75063123-75063534	HepG2	liver:	n/a	n/a
23	CEBPD	chr11:75062828-75063622	HepG2	liver:	n/a	n/a
24	MXI1	chr11:75060591-75063866	SK-N-SH	brain:	n/a	n/a
25	STAT5A	chr11:75063241-75063722	K562	blood:	n/a	chr11:75063392-75063404
26	GTF2F1	chr11:75063334-75063634	K562	blood:	n/a	n/a
27	TAL1	chr11:75063225-75063517	K562	blood:	n/a	n/a
28	CTCF	chr11:75063400-75063550	GM12878	blood:	n/a	chr11:75063462-75063471 chr11:75063459-75063477
29	UBTF	chr11:75062507-75063634	K562	blood:	n/a	n/a
30	CTCF	chr11:75063236-75063611	K562	blood:	n/a	chr11:75063462-75063471 chr11:75063459-75063477
31	ELF1	chr11:75063143-75063887	K562	blood:	n/a	chr11:75063520-75063533 chr11:75063489-75063500 chr11:75063408-75063420
32	ZNF143	chr11:75063278-75063710	K562	blood:	n/a	n/a
33	CTCF	chr11:75063380-75063530	GM12874	blood:	n/a	chr11:75063462-75063471 chr11:75063459-75063477
34	HDAC2	chr11:75063145-75063724	HepG2	liver:	n/a	chr11:75063562-75063581
35	REST	chr11:75063255-75063790	PFSK-1	brain:	n/a	chr11:75063561-75063581 chr11:75063562-75063580 chr11:75063581-75063594 chr11:75063561-75063581 chr11:75063561-75063581
36	ZBTB7A	chr11:75062204-75063554	ECC-1	luminal epithelium:	n/a	chr11:75063403-75063410
37	CTCF	chr11:75063383-75063537	HepG2	liver:	n/a	chr11:75063462-75063471 chr11:75063459-75063477
38	EP300	chr11:75062848-75063629	K562	blood:	n/a	chr11:75063456-75063472 chr11:75063545-75063561 chr11:75062923-75062939 chr11:75062936-75062952
39	REST	chr11:75063450-75063717	A549	lung:	n/a	chr11:75063561-75063581 chr11:75063562-75063580 chr11:75063581-75063594 chr11:75063561-75063581 chr11:75063561-75063581
40	REST	chr11:75063323-75063809	GM12878	blood:	n/a	chr11:75063561-75063581 chr11:75063562-75063580 chr11:75063581-75063594 chr11:75063561-75063581 chr11:75063561-75063581
41	YY1	chr11:75062250-75063657	HepG2	liver:	n/a	chr11:75062836-75062850 chr11:75063255-75063269 chr11:75063407-75063416
42	ZC3H11A	chr11:75063384-75063624	K562	blood:	n/a	n/a
43	HCFC1	chr11:75062336-75063667	K562	blood:	n/a	n/a
44	POLR2A	chr11:75062799-75063687	HepG2	liver:	n/a	n/a
45	CHD2	chr11:75062809-75063518	GM12878	blood:	n/a	n/a
46	REST	chr11:75063354-75063671	PFSK-1	brain:	n/a	chr11:75063561-75063581 chr11:75063562-75063580 chr11:75063581-75063594 chr11:75063561-75063581 chr11:75063561-75063581
47	ZBTB7A	chr11:75063117-75063628	HepG2	liver:	n/a	chr11:75063403-75063410
48	CTCF	chr11:75063460-75063610	NHDF-neo	bronchial:	n/a	chr11:75063462-75063471
49	SPI1	chr11:75063258-75063573	HL-60	blood:	n/a	chr11:75063527-75063540 chr11:75063492-75063499 chr11:75063491-75063500
50	POLR2A	chr11:75062234-75063913	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75063194..75065749-chr11:75140167..75143127,2	MCF-7	breast:
2	chr11:75063188..75064014-chr11:124823671..124824309,2	HCT-116	colon:
3	chr11:75061780..75064300-chr11:75109349..75111939,3	MCF-7	breast:
4	chr11:75061972..75065288-chr11:75110522..75113942,5	K562	blood:
5	chr11:75043210..75047420-chr11:75061230..75064804,5	MCF-7	breast:

Variant related genes	Relation type
ARRB1	TF binding region
ENSG00000199090	Chromatin interaction
ENSG00000149243	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000149548	Chromatin interaction
ENSG00000206941	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11236370	1.00[ASN][1000 genomes]
rs11823994	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824884	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12365307	1.00[ASN][1000 genomes]
rs17310905	1.00[ASN][1000 genomes]
rs4944078	1.00[ASN][1000 genomes]
rs4945006	1.00[ASN][1000 genomes]
rs56335064	1.00[ASN][1000 genomes]
rs61499806	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131128	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492857	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
3	nsv522447	chr11:74982939-75068767	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	57 gene(s)	inside rSNPs	diseases
4	esv3374722	chr11:75060004-75064302	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
5	esv3338679	chr11:75061154-75063652	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
6	esv3423985	chr11:75061529-75064077	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
7	esv3380305	chr11:75061754-75063802	Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75060800-75063600	Active TSS	Rectal Smooth Muscle	rectum
2	chr11:75061000-75063600	Active TSS	Lung	lung
3	chr11:75061400-75063800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:75061600-75063600	Flanking Active TSS	Liver	Liver
5	chr11:75061600-75063600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr11:75061800-75063600	Active TSS	Colon Smooth Muscle	Colon
7	chr11:75061800-75063600	Active TSS	Small Intestine	intestine
8	chr11:75061800-75063800	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr11:75062000-75063600	Active TSS	Primary monocytes fromperipheralblood	blood
10	chr11:75062000-75063600	Active TSS	Psoas Muscle	Psoas
11	chr11:75062000-75064000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr11:75062200-75063600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:75062200-75063600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr11:75062200-75063600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr11:75062200-75063600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:75062200-75063600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:75062200-75063600	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr11:75062200-75063600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:75062200-75063600	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr11:75062200-75063600	Active TSS	Brain Anterior Caudate	brain
21	chr11:75062200-75063600	Active TSS	Brain Substantia Nigra	brain
22	chr11:75062200-75063600	Active TSS	Duodenum Mucosa	Duodenum
23	chr11:75062200-75063600	Active TSS	Ovary	ovary
24	chr11:75062200-75063600	Active TSS	HSMM	muscle
25	chr11:75062200-75063800	Active TSS	H9 Cell Line	embryonic stem cell
26	chr11:75062200-75063800	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr11:75062200-75064000	Active TSS	Brain Angular Gyrus	brain
28	chr11:75062400-75063600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:75062400-75063600	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr11:75062400-75063600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:75062400-75063600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr11:75062400-75063600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr11:75062400-75063600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:75062400-75063600	Active TSS	Brain Cingulate Gyrus	brain
35	chr11:75062400-75063600	Active TSS	Brain Hippocampus Middle	brain
36	chr11:75062400-75063600	Active TSS	Fetal Intestine Large	intestine
37	chr11:75062400-75063600	Active TSS	Fetal Lung	lung
38	chr11:75062400-75063600	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr11:75062400-75063600	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr11:75062400-75063600	Active TSS	K562	blood
41	chr11:75062400-75063600	Active TSS	NHDF-Ad	bronchial
42	chr11:75062400-75063800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:75062400-75063800	Active TSS	Primary T cells from cord blood	blood
44	chr11:75062400-75063800	Active TSS	Fetal Kidney	kidney
45	chr11:75062400-75063800	Active TSS	Left Ventricle	heart
46	chr11:75062400-75064200	Enhancers	Fetal Brain Male	brain
47	chr11:75062600-75063600	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr11:75062600-75063600	Transcr. at gene 5' and 3'	Right Atrium	heart
49	chr11:75062800-75063600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:75062800-75063800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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