Variant report

Variant	rs4420271
Chromosome Location	chr11:9336450-9336451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:554)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr11:9335923-9336667	HepG2	liver:	n/a	chr11:9336300-9336316
2	PBX3	chr11:9335896-9336701	SK-N-SH	brain:	n/a	n/a
3	E2F4	chr11:9336051-9336763	MCF10A-Er-Src	breast:	n/a	chr11:9336286-9336297 chr11:9336470-9336479
4	ELK1	chr11:9335952-9336817	Hela-S3	cervix:	n/a	chr11:9336088-9336097 chr11:9336088-9336097
5	YY1	chr11:9335574-9336753	GM12878	blood:	n/a	n/a
6	RCOR1	chr11:9335955-9336693	HepG2	liver:	n/a	n/a
7	PAX5	chr11:9335572-9336549	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:9335828-9336745	HUVEC	blood vessel:	n/a	n/a
9	REST	chr11:9336269-9336640	SK-N-SH	brain:	n/a	chr11:9336306-9336316 chr11:9336441-9336454
10	SRF	chr11:9336257-9336550	GM12878	blood:	n/a	n/a
11	IRF1	chr11:9335957-9336886	K562	blood:	n/a	n/a
12	POLR2A	chr11:9336276-9336571	A549	lung:	n/a	n/a
13	POLR2A	chr11:9335211-9336857	PBDE	blood:	n/a	n/a
14	POLR2A	chr11:9335784-9337235	PANC-1	pancreas:	n/a	n/a
15	EP300	chr11:9335897-9337123	K562	blood:	n/a	chr11:9336497-9336505 chr11:9336401-9336408 chr11:9336089-9336096
16	CTCF	chr11:9336320-9336610	HFF-Myc	foreskin:	n/a	n/a
17	POLR2A	chr11:9335481-9337154	K562	blood:	n/a	n/a
18	CEBPB	chr11:9335940-9336690	IMR90	lung:	n/a	n/a
19	POLR2A	chr11:9335844-9336857	H1-hESC	embryonic stem cell:	n/a	n/a
20	EP300	chr11:9335977-9336457	HepG2	liver:	n/a	chr11:9336401-9336408 chr11:9336089-9336096
21	TAL1	chr11:9335972-9336664	K562	blood:	n/a	n/a
22	JUN	chr11:9336030-9337512	K562	blood:	n/a	n/a
23	POLR2A	chr11:9335786-9336878	HCT-116	colon:	n/a	n/a
24	ELF1	chr11:9335701-9336738	GM12878	blood:	n/a	chr11:9336398-9336409 chr11:9336399-9336408 chr11:9335740-9335752 chr11:9336398-9336409
25	EGR1	chr11:9335901-9336467	K562	blood:	n/a	chr11:9336323-9336332 chr11:9336400-9336409 chr11:9336088-9336097 chr11:9336192-9336205
26	RCOR1	chr11:9336401-9337122	K562	blood:	n/a	n/a
27	TAF1	chr11:9335841-9336728	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr11:9335949-9336695	HepG2	liver:	n/a	n/a
29	FOXA1	chr11:9336221-9336488	T-47D	breast:	n/a	n/a
30	MXI1	chr11:9335982-9336548	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr11:9336420-9336570	GM12873	blood:	n/a	n/a
32	TBP	chr11:9335946-9336819	GM12878	blood:	n/a	n/a
33	USF2	chr11:9336024-9336834	GM12878	blood:	n/a	chr11:9336300-9336316
34	MXI1	chr11:9335945-9336732	Hela-S3	cervix:	n/a	n/a
35	GABPA	chr11:9336276-9336521	GM12878	blood:	n/a	chr11:9336322-9336333 chr11:9336322-9336336
36	JUND	chr11:9335965-9336655	HepG2	liver:	n/a	n/a
37	MAX	chr11:9335840-9336657	H1-hESC	embryonic stem cell:	n/a	n/a
38	TCF7L2	chr11:9336245-9336830	HEK293	kidney:	n/a	n/a
39	HEY1	chr11:9335783-9337120	K562	blood:	n/a	n/a
40	HNF4A	chr11:9336221-9336616	HepG2	liver:	n/a	n/a
41	CTCF	chr11:9336410-9336593	HepG2	liver:	n/a	n/a
42	POLR2A	chr11:9335896-9337149	GM12891	blood:	n/a	n/a
43	GABPA	chr11:9335916-9336843	SK-N-SH	brain:	n/a	chr11:9336773-9336780 chr11:9336322-9336333 chr11:9336021-9336030 chr11:9336322-9336336 chr11:9336215-9336229
44	SIN3AK20	chr11:9336013-9336666	HepG2	liver:	n/a	n/a
45	RAD21	chr11:9335399-9336743	IMR90	lung:	n/a	n/a
46	YY1	chr11:9336277-9336592	A549	lung:	n/a	n/a
47	EGR1	chr11:9335596-9336789	HCT-116	colon:	n/a	chr11:9336323-9336332 chr11:9336400-9336409 chr11:9336088-9336097 chr11:9336192-9336205
48	MAFK	chr11:9336315-9336692	H1-hESC	embryonic stem cell:	n/a	chr11:9336456-9336472
49	ATF2	chr11:9335892-9336740	GM12878	blood:	n/a	n/a
50	TCF12	chr11:9335351-9337089	A549	lung:	n/a	chr11:9335754-9335764

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:9336443-9336493	AG09319	gingival:	n/a
2	chr11:9336443-9336493	HUVEC	blood vessel:	n/a
3	chr11:9336443-9336493	GM12892	blood:	n/a
4	chr11:9336443-9336493	HPAEpiC	pulmonary alveolar:	n/a
5	chr11:9336443-9336493	GM19239	blood:	n/a
6	chr11:9336443-9336493	AG10803	skin:	n/a
7	chr11:9336443-9336493	Jurkat	blood:	n/a
8	chr11:9336443-9336493	Hela-S3	cervix:	n/a
9	chr11:9336443-9336493	GM12891	blood:	n/a
10	chr11:9336443-9336493	H1-hESC	embryonic stem cell:	embryo
11	chr11:9336443-9336493	GM06990	blood:	n/a
12	chr11:9336443-9336493	HEK293	kidney:	embryo
13	chr11:9336443-9336493	PFSK-1	brain:	n/a
14	chr11:9336443-9336493	SK-N-MC	brain:	n/a
15	chr11:9336443-9336493	ECC-1	luminal epithelium:	n/a
16	chr11:9336443-9336493	AG04450	lung:	fetal
17	chr11:9336443-9336493	ProgFib	skin:	n/a
18	chr11:9336443-9336493	BE2_C	brain:	n/a
19	chr11:9336443-9336493	HCF	heart:	n/a
20	chr11:9336443-9336493	Caco-2	colon:	n/a
21	chr11:9336443-9336493	GM12878	blood:	n/a
22	chr11:9336443-9336493	AoSMC	blood vessel:	n/a
23	chr11:9336443-9336493	K562	blood:	n/a
24	chr11:9336443-9336493	SK-N-SH_RA	brain:	n/a
25	chr11:9336443-9336493	HCM	heart:	n/a
26	chr11:9336443-9336493	HIPEpiC	eye:	n/a
27	chr11:9336443-9336493	BJ	skin:	n/a
28	chr11:9336443-9336493	HCT-116	colon:	n/a
29	chr11:9336443-9336493	SAEC	small airway:	n/a
30	chr11:9336443-9336493	CMK	blood:	n/a
31	chr11:9336443-9336493	HAEpiC	amniotic membrane:	n/a
32	chr11:9336443-9336493	SKMC	muscle:	n/a
33	chr11:9336443-9336493	NB4	blood:	n/a
34	chr11:9336443-9336493	HRCEpiC	kidney:	n/a
35	chr11:9336443-9336493	AG09309	skin:	n/a
36	chr11:9336443-9336493	Hepatocyte	liver:	n/a
37	chr11:9336443-9336493	RPTEC	kidney:	n/a
38	chr11:9336443-9336493	SK-N-SH	brain:	n/a
39	chr11:9336443-9336493	MCF-7	breast:	n/a
40	chr11:9336443-9336493	HL-60	blood:	n/a
41	chr11:9336443-9336493	HNPCEpiC	eye:	n/a
42	chr11:9336443-9336493	PrEC	prostate:	n/a
43	chr11:9336443-9336493	HepG2	liver:	n/a
44	chr11:9336443-9336493	HCPEpiC	choroid plexus:	n/a
45	chr11:9336443-9336493	PANC-1	pancreas:	n/a
46	chr11:9336443-9336493	HEEpiC	esophagus:	n/a
47	chr11:9336443-9336493	NHDF-neo	bronchial:	n/a
48	chr11:9336443-9336493	ovcar-3	ovarian:	n/a
49	chr11:9336443-9336493	MCF10A-Er-Src	breast:	n/a
50	chr11:9336443-9336493	HMEC	breast:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9335238..9336588-chr11:9482149..9483111,3	Hela-S3	cervix:
2	chr11:9335962..9338074-chr11:9596330..9598082,2	K562	blood:
3	chr11:9328102..9338305-chr11:9404480..9412498,38	K562	blood:
4	chr11:9336420..9337996-chr11:9594854..9596494,2	K562	blood:
5	chr11:9335999..9336519-chr7:16685820..16686475,2	Hela-S3	cervix:
6	chr11:9334169..9339249-chr11:9404487..9409469,24	K562	blood:
7	chr1:246670144..246671144-chr11:9335985..9336628,2	HCT-116	colon:
8	chr1:28974718..28975661-chr11:9335971..9336650,2	Hela-S3	cervix:
9	chr11:9335623..9336496-chr11:9405441..9406335,2	NB4	blood:
10	chr11:9283945..9288774-chr11:9332278..9339081,12	K562	blood:
11	chr11:9334187..9337944-chr11:9481178..9484496,6	K562	blood:
12	chr11:9334944..9338278-chr11:9404354..9407861,9	MCF-7	breast:
13	chr11:9334942..9338160-chr11:9405201..9408296,5	MCF-7	breast:
14	chr11:9336246..9336770-chr6:26216163..26217090,2	Hela-S3	cervix:
15	chr11:9333668..9337804-chr11:9478729..9484496,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254884	TF binding region
TMEM41B	TF binding region
ENSG00000254884	CpG island
TMEM41B	CpG island
ENSG00000136261	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000166483	Chromatin interaction
ENSG00000205339	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000185420	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000184014	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10743100	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10743102	1.00[EUR][1000 genomes]
rs10743103	1.00[EUR][1000 genomes]
rs10840197	1.00[EUR][1000 genomes]
rs10840198	1.00[EUR][1000 genomes]
rs11042254	1.00[EUR][1000 genomes]
rs12225143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1809855	1.00[EUR][1000 genomes]
rs1874821	1.00[EUR][1000 genomes]
rs2016375	1.00[EUR][1000 genomes]
rs4243946	1.00[EUR][1000 genomes]
rs4331093	1.00[EUR][1000 genomes]
rs4372456	0.92[AFR][1000 genomes]
rs4414214	1.00[EUR][1000 genomes]
rs4450172	1.00[EUR][1000 genomes]
rs4589301	1.00[EUR][1000 genomes]
rs4601780	1.00[EUR][1000 genomes]
rs4625467	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4644643	1.00[EUR][1000 genomes]
rs4910448	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56306422	1.00[EUR][1000 genomes]
rs57052969	1.00[EUR][1000 genomes]
rs57655359	1.00[EUR][1000 genomes]
rs58309260	1.00[EUR][1000 genomes]
rs58361373	1.00[EUR][1000 genomes]
rs58795427	1.00[EUR][1000 genomes]
rs59398820	1.00[EUR][1000 genomes]
rs59400072	1.00[EUR][1000 genomes]
rs59618374	1.00[EUR][1000 genomes]
rs59984721	1.00[EUR][1000 genomes]
rs60542289	1.00[EUR][1000 genomes]
rs60602151	1.00[EUR][1000 genomes]
rs60731772	1.00[EUR][1000 genomes]
rs61217844	1.00[EUR][1000 genomes]
rs61379640	1.00[EUR][1000 genomes]
rs61409427	1.00[EUR][1000 genomes]
rs6486149	1.00[EUR][1000 genomes]
rs7119158	1.00[EUR][1000 genomes]
rs73402319	1.00[EUR][1000 genomes]
rs73402323	1.00[EUR][1000 genomes]
rs73402339	1.00[EUR][1000 genomes]
rs73402344	1.00[EUR][1000 genomes]
rs73402346	1.00[EUR][1000 genomes]
rs73402362	1.00[EUR][1000 genomes]
rs73402399	1.00[EUR][1000 genomes]
rs73404303	1.00[EUR][1000 genomes]
rs73404305	1.00[EUR][1000 genomes]
rs73412032	1.00[EUR][1000 genomes]
rs73416044	1.00[EUR][1000 genomes]
rs73416046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73416057	1.00[EUR][1000 genomes]
rs7931491	1.00[EUR][1000 genomes]
rs7932136	1.00[EUR][1000 genomes]
rs7932954	1.00[EUR][1000 genomes]
rs7935518	1.00[EUR][1000 genomes]
rs7942119	1.00[EUR][1000 genomes]
rs7944130	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7944713	1.00[EUR][1000 genomes]
rs7948651	1.00[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	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv508617	chr11:9314027-9408562	Flanking Active TSS Weak transcription Enhancers Active TSS Strong 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	27 gene(s)	inside rSNPs	diseases
7	nsv521969	chr11:9334961-9379005	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 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	chr11:9332800-9336800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:9333000-9336800	Active TSS	Psoas Muscle	Psoas
3	chr11:9334000-9336600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:9334000-9336800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:9334200-9336600	Active TSS	HMEC	breast
6	chr11:9334200-9336600	Active TSS	K562	blood
7	chr11:9334600-9336600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:9334600-9336600	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr11:9334600-9336600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr11:9334600-9336600	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr11:9334600-9336600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:9334600-9336600	Active TSS	A549	lung
13	chr11:9334600-9336600	Active TSS	HSMMtube	muscle
14	chr11:9334600-9336600	Active TSS	NHDF-Ad	bronchial
15	chr11:9334600-9336600	Active TSS	NHLF	lung
16	chr11:9334600-9337000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr11:9334600-9337000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr11:9334600-9337000	Active TSS	Right Atrium	heart
19	chr11:9334600-9337400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr11:9334800-9336600	Active TSS	H1 Cell Line	embryonic stem cell
21	chr11:9334800-9336600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:9334800-9336600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr11:9334800-9336600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:9334800-9336600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:9334800-9336600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:9334800-9336600	Active TSS	Fetal Muscle Leg	muscle
27	chr11:9334800-9336600	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr11:9334800-9336600	Active TSS	NHEK	skin
29	chr11:9334800-9336800	Active TSS	Aorta	Aorta
30	chr11:9334800-9336800	Active TSS	Fetal Intestine Large	intestine
31	chr11:9334800-9337200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr11:9334800-9337200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:9335000-9336600	Active TSS	Muscle Satellite Cultured Cells	--
34	chr11:9335000-9336600	Active TSS	Brain Anterior Caudate	brain
35	chr11:9335000-9336600	Active TSS	Brain Cingulate Gyrus	brain
36	chr11:9335000-9336600	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr11:9335000-9336600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:9335000-9336600	Active TSS	Colonic Mucosa	Colon
39	chr11:9335000-9336600	Active TSS	Fetal Heart	heart
40	chr11:9335000-9336600	Active TSS	Right Ventricle	heart
41	chr11:9335000-9336600	Active TSS	Stomach Mucosa	stomach
42	chr11:9335000-9336800	Active TSS	Fetal Intestine Small	intestine
43	chr11:9335000-9336800	Active TSS	Ovary	ovary
44	chr11:9335000-9337000	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr11:9335000-9337200	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr11:9335200-9336600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:9335200-9336600	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr11:9335200-9336600	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr11:9335200-9336600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:9335200-9336600	Active TSS	Primary T helper naive cells from peripheral blood	blood

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