Variant report

Variant	rs536276435
Chromosome Location	chr11:74110157-74110158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:197)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:197 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ETS1	chr11:74109564-74110157	K562	blood:	n/a	chr11:74109864-74109871 chr11:74109760-74109773 chr11:74109863-74109876 chr11:74109862-74109875
2	TBP	chr11:74109271-74110371	K562	blood:	n/a	n/a
3	POLR2A	chr11:74108443-74110343	H1-neurons	neurons:	n/a	n/a
4	MAX	chr11:74109482-74110192	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:74109217-74110168	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:74109567-74110284	GM12878	blood:	n/a	n/a
7	MAX	chr11:74109590-74110247	H1-hESC	embryonic stem cell:	n/a	n/a
8	NRF1	chr11:74109166-74110363	SK-N-SH	brain:	n/a	chr11:74109775-74109786 chr11:74109804-74109815
9	ZNF143	chr11:74109300-74110265	Hela-S3	cervix:	n/a	chr11:74109856-74109874 chr11:74109916-74109925 chr11:74109865-74109874 chr11:74109863-74109872 chr11:74109914-74109923 chr11:74109914-74109932
10	POLR2A	chr11:74109839-74110178	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr11:74109224-74110177	MCF-7	breast:	n/a	n/a
12	STAT3	chr11:74109476-74110168	MCF10A-Er-Src	breast:	n/a	chr11:74109821-74109833
13	MXI1	chr11:74109443-74110227	GM12878	blood:	n/a	n/a
14	MAX	chr11:74109327-74110164	H1-hESC	embryonic stem cell:	n/a	n/a
15	TAL1	chr11:74109596-74110167	K562	blood:	n/a	n/a
16	POLR2A	chr11:74109370-74110341	U87	brain:	n/a	n/a
17	SP1	chr11:74109345-74110308	A549	lung:	n/a	chr11:74109615-74109625 chr11:74109820-74109834 chr11:74109817-74109831 chr11:74109823-74109834
18	MXI1	chr11:74109645-74110169	H1-hESC	embryonic stem cell:	n/a	n/a
19	KAP1	chr11:74109659-74110259	U2OS	brain:	n/a	n/a
20	IRF4	chr11:74109662-74110194	GM12878	blood:	n/a	n/a
21	TAF1	chr11:74109127-74110269	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr11:74109322-74110350	GM12891	blood:	n/a	n/a
23	MAX	chr11:74109300-74110301	MCF-7	breast:	n/a	n/a
24	MTA3	chr11:74109507-74110595	GM12878	blood:	n/a	n/a
25	ARID3A	chr11:74109792-74110550	K562	blood:	n/a	n/a
26	MYC	chr11:74109555-74110256	K562	blood:	n/a	n/a
27	POLR2A	chr11:74109277-74110223	K562	blood:	n/a	n/a
28	TAF1	chr11:74109009-74110217	ECC-1	luminal epithelium:	n/a	n/a
29	MAX	chr11:74109094-74110224	ECC-1	luminal epithelium:	n/a	n/a
30	HEY1	chr11:74109534-74110306	K562	blood:	n/a	n/a
31	BHLHE40	chr11:74109612-74110226	K562	blood:	n/a	n/a
32	TEAD4	chr11:74109741-74110163	HepG2	liver:	n/a	n/a
33	SIN3AK20	chr11:74109256-74110420	MCF-7	breast:	n/a	n/a
34	POLR2A	chr11:74108843-74110423	H1-hESC	embryonic stem cell:	n/a	n/a
35	MYC	chr11:74109607-74110176	H1-hESC	embryonic stem cell:	n/a	n/a
36	SMARCB1	chr11:74108839-74110206	Hela-S3	cervix:	n/a	chr11:74109865-74109874 chr11:74109914-74109923
37	RFX5	chr11:74109259-74110262	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr11:74109187-74110281	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr11:74108924-74110240	Gliobla	brain:	n/a	n/a
40	PBX3	chr11:74109604-74110237	SK-N-SH	brain:	n/a	n/a
41	TAF1	chr11:74109312-74110351	H1-neurons	neurons:	n/a	n/a
42	USF2	chr11:74109961-74110161	K562	blood:	n/a	n/a
43	IRF1	chr11:74109550-74110177	K562	blood:	n/a	n/a
44	MAZ	chr11:74108710-74110230	K562	blood:	n/a	n/a
45	TBP	chr11:74109210-74110251	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr11:74108761-74110441	SK-N-MC	brain:	n/a	n/a
47	FOSL2	chr11:74109499-74110303	A549	lung:	n/a	n/a
48	SIX5	chr11:74109355-74110367	A549	lung:	n/a	chr11:74109865-74109874 chr11:74109916-74109925 chr11:74109863-74109872
49	POLR2A	chr11:74109241-74110300	HL-60	blood:	n/a	n/a
50	POLR2A	chr11:74108437-74110578	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:74110145-74110195	AG04449	skin:	fetal
2	chr11:74110145-74110195	HRPEpiC	eye:	n/a
3	chr11:74110145-74110195	Caco-2	colon:	n/a
4	chr11:74110145-74110195	HCT-116	colon:	n/a
5	chr11:74110145-74110195	AG09319	gingival:	n/a
6	chr11:74110145-74110195	SK-N-SH_RA	brain:	n/a
7	chr11:74110145-74110195	IMR90	lung:	fetal
8	chr11:74110145-74110195	GM12891	blood:	n/a
9	chr11:74110145-74110195	K562	blood:	n/a
10	chr11:74110145-74110195	HNPCEpiC	eye:	n/a
11	chr11:74110145-74110195	RPTEC	kidney:	n/a
12	chr11:74110145-74110195	ovcar-3	ovarian:	n/a
13	chr11:74110145-74110195	SKMC	muscle:	n/a
14	chr11:74110145-74110195	GM19239	blood:	n/a
15	chr11:74110145-74110195	AG04450	lung:	fetal
16	chr11:74110145-74110195	GM12878	blood:	n/a
17	chr11:74110145-74110195	BE2_C	brain:	n/a
18	chr11:74110145-74110195	GM12892	blood:	n/a
19	chr11:74110145-74110195	A549	lung:	n/a
20	chr11:74110145-74110195	AoSMC	blood vessel:	n/a
21	chr11:74110145-74110195	HCM	heart:	n/a
22	chr11:74110145-74110195	GM06990	blood:	n/a
23	chr11:74110145-74110195	HUVEC	blood vessel:	n/a
24	chr11:74110145-74110195	HepG2	liver:	n/a
25	chr11:74110145-74110195	BJ	skin:	n/a
26	chr11:74110145-74110195	AG10803	skin:	n/a
27	chr11:74110145-74110195	HMEC	breast:	n/a
28	chr11:74110145-74110195	NH-A	brain:	n/a
29	chr11:74110145-74110195	SK-N-MC	brain:	n/a
30	chr11:74110145-74110195	PANC-1	pancreas:	n/a
31	chr11:74110145-74110195	HPAEpiC	pulmonary alveolar:	n/a
32	chr11:74110145-74110195	HAEpiC	amniotic membrane:	n/a
33	chr11:74110145-74110195	PrEC	prostate:	n/a
34	chr11:74110145-74110195	Hela-S3	cervix:	n/a
35	chr11:74110145-74110195	NT2-D1	testis:	n/a
36	chr11:74110145-74110195	PFSK-1	brain:	n/a
37	chr11:74110145-74110195	ECC-1	luminal epithelium:	n/a
38	chr11:74110145-74110195	HEEpiC	esophagus:	n/a
39	chr11:74110145-74110195	Jurkat	blood:	n/a
40	chr11:74110145-74110195	ProgFib	skin:	n/a
41	chr11:74110145-74110195	MCF-7	breast:	n/a
42	chr11:74110145-74110195	NHDF-neo	bronchial:	n/a
43	chr11:74110145-74110195	LNCaP	prostate:	n/a
44	chr11:74110145-74110195	T-47D	breast:	n/a
45	chr11:74110145-74110195	H1-hESC	embryonic stem cell:	embryo
46	chr11:74110145-74110195	AG09309	skin:	n/a
47	chr11:74110145-74110195	SAEC	small airway:	n/a
48	chr11:74110145-74110195	U87	brain:	n/a
49	chr11:74110145-74110195	NB4	blood:	n/a
50	chr11:74110145-74110195	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74108659..74110537-chr11:74118206..74120213,2	K562	blood:

No data

Variant related genes	Relation type
PGM2L1	TF binding region
MIR548AL	TF binding region
MIR548AL	CpG island
PGM2L1	CpG island
ENSG00000255440	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv1049915	chr11:74052264-74126319	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
7	nsv555443	chr11:74109166-74180489	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 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	chr11:74107200-74110400	Active TSS	Fetal Brain Female	brain
2	chr11:74107800-74110400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr11:74107800-74110400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:74107800-74110400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:74107800-74110400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:74107800-74110400	Active TSS	Thymus	Thymus
7	chr11:74107800-74110600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:74107800-74110600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:74107800-74110600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr11:74107800-74110800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:74108000-74110200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr11:74108000-74110400	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr11:74108000-74110400	Active TSS	Brain Anterior Caudate	brain
14	chr11:74108000-74110600	Active TSS	Fetal Brain Male	brain
15	chr11:74108000-74110600	Active TSS	Fetal Kidney	kidney
16	chr11:74108000-74110600	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr11:74108200-74110400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr11:74108200-74110400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr11:74108200-74110400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:74108200-74110400	Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr11:74108200-74110400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:74108200-74110400	Active TSS	Brain Angular Gyrus	brain
23	chr11:74108200-74110400	Active TSS	Fetal Stomach	stomach
24	chr11:74108200-74110400	Active TSS	HSMM	muscle
25	chr11:74108200-74110600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:74108200-74110600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:74108200-74110600	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr11:74108200-74110600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:74108400-74110200	Active TSS	Brain Hippocampus Middle	brain
30	chr11:74108400-74110400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:74108400-74110400	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr11:74108400-74110400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:74108400-74110400	Active TSS	Aorta	Aorta
34	chr11:74108400-74110400	Active TSS	Brain Substantia Nigra	brain
35	chr11:74108400-74110400	Active TSS	Duodenum Mucosa	Duodenum
36	chr11:74108400-74110400	Active TSS	Fetal Intestine Large	intestine
37	chr11:74108400-74110400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr11:74108400-74110400	Active TSS	Left Ventricle	heart
39	chr11:74108400-74110400	Active TSS	Ovary	ovary
40	chr11:74108400-74110400	Active TSS	Psoas Muscle	Psoas
41	chr11:74108400-74110400	Active TSS	A549	lung
42	chr11:74108400-74110400	Active TSS	NHDF-Ad	bronchial
43	chr11:74108400-74110400	Active TSS	Osteobl	bone
44	chr11:74108400-74110600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:74108400-74110600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:74108600-74110200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:74108600-74110200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:74108600-74110200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:74108600-74110200	Active TSS	Gastric	stomach
50	chr11:74108600-74110200	Active TSS	Lung	lung

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