Variant report

Variant	rs370587938
Chromosome Location	chr11:65838646-65838647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr11:65838576-65838842	MCF10A-Er-Src	breast:	n/a	n/a
2	MAX	chr11:65836371-65838975	A549	lung:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
3	CEBPB	chr11:65838503-65838945	Hela-S3	cervix:	n/a	chr11:65838693-65838704
4	POLR2A	chr11:65837187-65838778	HUVEC	blood vessel:	n/a	n/a
5	SIN3A	chr11:65838540-65838737	H1-hESC	embryonic stem cell:	n/a	chr11:65838647-65838656
6	MAZ	chr11:65836170-65839866	IMR90	lung:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
7	WRNIP1	chr11:65838609-65839473	GM12878	blood:	n/a	n/a
8	MAX	chr11:65836813-65838795	MCF-7	breast:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
9	MAX	chr11:65838537-65838894	Hela-S3	cervix:	n/a	n/a
10	MAX	chr11:65837252-65838902	K562	blood:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
11	POLR2A	chr11:65838532-65839028	SK-N-SH	brain:	n/a	n/a
12	STAT3	chr11:65838622-65838776	MCF10A-Er-Src	breast:	n/a	n/a
13	CEBPB	chr11:65838574-65838803	HepG2	liver:	n/a	chr11:65838693-65838704
14	GATA3	chr11:65838382-65838913	T-47D	breast:	n/a	n/a
15	GATA3	chr11:65838436-65838857	T-47D	breast:	n/a	n/a
16	MXI1	chr11:65836442-65839722	SK-N-SH	brain:	n/a	n/a
17	MAX	chr11:65836764-65838667	A549	lung:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
18	SIN3A	chr11:65838501-65838852	GM12878	blood:	n/a	chr11:65838647-65838656
19	CEBPB	chr11:65838572-65838872	K562	blood:	n/a	chr11:65838693-65838704
20	MXI1	chr11:65836611-65839059	IMR90	lung:	n/a	n/a
21	MXI1	chr11:65838508-65838876	Hela-S3	cervix:	n/a	n/a
22	SIN3AK20	chr11:65837049-65838698	PANC-1	pancreas:	n/a	n/a
23	CTCF	chr11:65834974-65838748	SK-N-SH	brain:	n/a	chr11:65838478-65838491 chr11:65838476-65838494 chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
24	SIN3AK20	chr11:65836737-65839079	MCF-7	breast:	n/a	n/a
25	E2F4	chr11:65838526-65838726	MCF10A-Er-Src	breast:	n/a	chr11:65838640-65838650 chr11:65838641-65838651
26	MYC	chr11:65838646-65838891	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr11:65836455-65838775	MCF-7	breast:	n/a	n/a
28	CEBPB	chr11:65838491-65838876	K562	blood:	n/a	chr11:65838693-65838704
29	FOXA1	chr11:65838526-65838798	T-47D	breast:	n/a	n/a
30	FOS	chr11:65838609-65838778	MCF10A-Er-Src	breast:	n/a	n/a
31	CTCF	chr11:65838540-65838690	HCPEpiC	choroid plexus:	n/a	n/a
32	CEBPB	chr11:65838610-65838896	A549	lung:	n/a	chr11:65838693-65838704
33	MYC	chr11:65838456-65838861	MCF10A-Er-Src	breast:	n/a	n/a
34	SIN3AK20	chr11:65838337-65838683	PFSK-1	brain:	n/a	n/a
35	STAT3	chr11:65838554-65838760	MCF10A-Er-Src	breast:	n/a	n/a
36	MTA3	chr11:65838543-65839240	GM12878	blood:	n/a	n/a
37	GATA2	chr11:65838504-65838782	SH-SY5Y	brain:	n/a	n/a
38	EBF1	chr11:65838401-65838675	GM12878	blood:	n/a	n/a
39	ELF1	chr11:65837165-65838675	GM12878	blood:	n/a	chr11:65837339-65837351 chr11:65838641-65838653
40	POLR2A	chr11:65836455-65838886	K562	blood:	n/a	n/a
41	UBTF	chr11:65837358-65838725	K562	blood:	n/a	n/a
42	STAT3	chr11:65838622-65838730	MCF10A-Er-Src	breast:	n/a	n/a
43	MAZ	chr11:65838482-65838657	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:65838232-65839032	HUVEC	blood vessel:	n/a	n/a
45	SMC3	chr11:65838525-65838791	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65838645-65838695	GM19239	blood:	n/a
2	chr11:65838645-65838695	RPTEC	kidney:	n/a
3	chr11:65838645-65838695	HL-60	blood:	n/a
4	chr11:65838645-65838695	GM06990	blood:	n/a
5	chr11:65838645-65838695	K562	blood:	n/a
6	chr11:65838645-65838695	HIPEpiC	eye:	n/a
7	chr11:65838645-65838695	AG04450	lung:	fetal
8	chr11:65838645-65838695	HRPEpiC	eye:	n/a
9	chr11:65838645-65838695	ProgFib	skin:	n/a
10	chr11:65838645-65838695	PrEC	prostate:	n/a
11	chr11:65838645-65838695	HRCEpiC	kidney:	n/a
12	chr11:65838645-65838695	AG10803	skin:	n/a
13	chr11:65838645-65838695	HPAEpiC	pulmonary alveolar:	n/a
14	chr11:65838645-65838695	PANC-1	pancreas:	n/a
15	chr11:65838645-65838695	HCPEpiC	choroid plexus:	n/a
16	chr11:65838645-65838695	CMK	blood:	n/a
17	chr11:65838645-65838695	HEK293	kidney:	embryo
18	chr11:65838645-65838695	A549	lung:	n/a
19	chr11:65838645-65838695	NT2-D1	testis:	n/a
20	chr11:65838645-65838695	SAEC	small airway:	n/a
21	chr11:65838645-65838695	HRE	kidney:	n/a
22	chr11:65838645-65838695	HMEC	breast:	n/a
23	chr11:65838645-65838695	HCM	heart:	n/a
24	chr11:65838645-65838695	AG09319	gingival:	n/a
25	chr11:65838645-65838695	IMR90	lung:	fetal
26	chr11:65838645-65838695	AG09309	skin:	n/a
27	chr11:65838645-65838695	AG04449	skin:	fetal
28	chr11:65838645-65838695	MCF10A-Er-Src	breast:	n/a
29	chr11:65838645-65838695	HepG2	liver:	n/a
30	chr11:65838645-65838695	U87	brain:	n/a
31	chr11:65838645-65838695	SK-N-SH	brain:	n/a
32	chr11:65838645-65838695	ECC-1	luminal epithelium:	n/a
33	chr11:65838645-65838695	T-47D	breast:	n/a
34	chr11:65838645-65838695	HAEpiC	amniotic membrane:	n/a
35	chr11:65838645-65838695	NH-A	brain:	n/a
36	chr11:65838645-65838695	HCF	heart:	n/a
37	chr11:65838645-65838695	NHBE	bronchial:	n/a
38	chr11:65838645-65838695	LNCaP	prostate:	n/a
39	chr11:65838645-65838695	Hepatocyte	liver:	n/a
40	chr11:65838645-65838695	ovcar-3	ovarian:	n/a
41	chr11:65838645-65838695	HCT-116	colon:	n/a
42	chr11:65838645-65838695	SK-N-MC	brain:	n/a
43	chr11:65838645-65838695	BE2_C	brain:	n/a
44	chr11:65838645-65838695	Jurkat	blood:	n/a
45	chr11:65838645-65838695	NHDF-neo	bronchial:	n/a
46	chr11:65838645-65838695	SK-N-SH_RA	brain:	n/a
47	chr11:65838645-65838695	NB4	blood:	n/a
48	chr11:65838645-65838695	GM12892	blood:	n/a
49	chr11:65838645-65838695	AoSMC	blood vessel:	n/a
50	chr11:65838645-65838695	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:65654924..65660442-chr11:65834310..65838665,6	K562	blood:
2	chr11:65816864..65823380-chr11:65832037..65840391,16	MCF-7	breast:
3	chr11:65812922..65815510-chr11:65837744..65839701,2	K562	blood:
4	chr11:65836209..65839625-chr11:66023244..66027607,5	K562	blood:
5	chr11:65654814..65656550-chr11:65837621..65839885,2	MCF-7	breast:
6	chr11:65836630..65840121-chr11:66032259..66035828,5	MCF-7	breast:
7	chr11:65779081..65782393-chr11:65836476..65839425,3	MCF-7	breast:
8	chr11:65837353..65839732-chr11:66024702..66027312,4	MCF-7	breast:
9	chr11:65835858..65838956-chr11:66027814..66030508,4	MCF-7	breast:
10	chr11:65788387..65789947-chr11:65837601..65839297,2	K562	blood:
11	chr11:65836209..65839676-chr11:66023244..66028603,5	K562	blood:
12	chr11:65654924..65661575-chr11:65833688..65838665,10	K562	blood:
13	chr11:65826244..65833224-chr11:65834439..65839387,11	MCF-7	breast:
14	chr11:65837641..65839546-chr11:66050688..66053288,2	K562	blood:
15	chr11:65623430..65625691-chr11:65837839..65839866,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255038	TF binding region
ENSG00000255038	CpG island
ENSG00000174851	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000175315	Chromatin interaction
ENSG00000174996	Chromatin interaction
ENSG00000254461	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000254855	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000172732	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
3	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	esv3321690	chr11:65835376-65839974	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
7	esv3377128	chr11:65836776-65839324	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
8	esv3340048	chr11:65837001-65839549	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	24 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	chr11:65836800-65839000	Active TSS	Primary T cells from cord blood	blood
2	chr11:65836800-65839600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr11:65837000-65838800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:65837000-65838800	Active TSS	Brain Substantia Nigra	brain
5	chr11:65837000-65839000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr11:65837000-65839000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr11:65837000-65839200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr11:65837000-65839200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr11:65837000-65839200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr11:65837000-65839400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:65837000-65839600	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:65837000-65839800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:65837200-65838800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:65837200-65838800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:65837200-65838800	Active TSS	Brain Cingulate Gyrus	brain
16	chr11:65837200-65838800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:65837200-65838800	Active TSS	Colon Smooth Muscle	Colon
18	chr11:65837200-65838800	Active TSS	Duodenum Mucosa	Duodenum
19	chr11:65837200-65838800	Active TSS	Fetal Intestine Large	intestine
20	chr11:65837200-65838800	Active TSS	Spleen	Spleen
21	chr11:65837200-65839000	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr11:65837200-65839000	Active TSS	Ovary	ovary
23	chr11:65837200-65839000	Active TSS	Pancreas	Pancrea
24	chr11:65837200-65839000	Active TSS	Small Intestine	intestine
25	chr11:65837200-65839200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:65837200-65839200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:65837200-65839200	Active TSS	Aorta	Aorta
28	chr11:65837200-65839200	Active TSS	Esophagus	oesophagus
29	chr11:65837200-65839200	Active TSS	Gastric	stomach
30	chr11:65837200-65839200	Active TSS	Left Ventricle	heart
31	chr11:65837200-65839200	Active TSS	Lung	lung
32	chr11:65837200-65839400	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr11:65837200-65839400	Active TSS	Rectal Smooth Muscle	rectum
34	chr11:65837200-65839400	Active TSS	Right Atrium	heart
35	chr11:65837200-65839400	Active TSS	Right Ventricle	heart
36	chr11:65837200-65839400	Active TSS	A549	lung
37	chr11:65837200-65839400	Active TSS	HSMM	muscle
38	chr11:65837200-65839600	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr11:65837200-65839600	Active TSS	HSMMtube	muscle
40	chr11:65837400-65838800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:65837400-65838800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:65837400-65838800	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr11:65837400-65838800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr11:65837400-65838800	Active TSS	Muscle Satellite Cultured Cells	--
45	chr11:65837400-65838800	Active TSS	Placenta Amnion	Placenta Amnion
46	chr11:65837400-65838800	Active TSS	Psoas Muscle	Psoas
47	chr11:65837400-65838800	Active TSS	Thymus	Thymus
48	chr11:65837400-65838800	Active TSS	HepG2	liver
49	chr11:65837400-65838800	Active TSS	K562	blood
50	chr11:65837400-65838800	Active TSS	NH-A	brain

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