Variant report

Variant	rs574509613
Chromosome Location	chr11:34073020-34073021
allele	C/G
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	PML	chr11:34072680-34075311	GM12878	blood:	n/a	n/a
2	E2F6	chr11:34072987-34073351	K562	blood:	n/a	chr11:34073210-34073222
3	CHD2	chr11:34072718-34073435	K562	blood:	n/a	n/a
4	CHD1	chr11:34072595-34073415	GM12878	blood:	n/a	n/a
5	EP300	chr11:34072965-34073473	HepG2	liver:	n/a	chr11:34073399-34073415 chr11:34073099-34073115
6	ZBTB7A	chr11:34072844-34074016	K562	blood:	n/a	chr11:34073832-34073841
7	ATF3	chr11:34072875-34073379	A549	lung:	n/a	n/a
8	POLR2A	chr11:34072808-34075174	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:34072928-34074459	GM12891	blood:	n/a	n/a
10	CTCFL	chr11:34073020-34073148	K562	blood:	n/a	n/a
11	EGR1	chr11:34073002-34073245	GM12878	blood:	n/a	n/a
12	TBP	chr11:34072470-34075318	K562	blood:	n/a	n/a
13	CEBPD	chr11:34072874-34074056	HepG2	liver:	n/a	n/a
14	SP1	chr11:34072928-34073324	H1-hESC	embryonic stem cell:	n/a	n/a
15	SMC3	chr11:34072937-34073400	Hela-S3	cervix:	n/a	chr11:34073091-34073101
16	POLR2A	chr11:34072650-34075272	ProgFib	skin:	n/a	n/a
17	JUND	chr11:34072712-34074057	K562	blood:	n/a	n/a
18	CTCF	chr11:34073020-34073170	GM12875	blood:	n/a	chr11:34073088-34073101
19	CHD2	chr11:34072676-34075278	Hela-S3	cervix:	n/a	n/a
20	EBF1	chr11:34072675-34074028	GM12878	blood:	n/a	n/a
21	TAF1	chr11:34072868-34073453	SK-N-SH	brain:	n/a	n/a
22	HEY1	chr11:34072719-34074125	HepG2	liver:	n/a	chr11:34073828-34073843
23	RELA	chr11:34072695-34075299	GM12891	blood:	n/a	n/a
24	NR3C1	chr11:34072909-34073349	A549	lung:	n/a	n/a
25	RCOR1	chr11:34072926-34074163	IMR90	lung:	n/a	n/a
26	POLR2A	chr11:34072843-34075151	GM12878	blood:	n/a	n/a
27	CREB1	chr11:34072744-34075289	HepG2	liver:	n/a	n/a
28	ETS1	chr11:34072939-34073404	K562	blood:	n/a	n/a
29	SIN3AK20	chr11:34072737-34074221	HCT-116	colon:	n/a	n/a
30	POLR2A	chr11:34072350-34074205	HUVEC	blood vessel:	n/a	n/a
31	TAF1	chr11:34072652-34073495	H1-neurons	neurons:	n/a	n/a
32	ELF1	chr11:34072870-34075215	GM12878	blood:	n/a	chr11:34073676-34073685 chr11:34073672-34073684 chr11:34073111-34073123 chr11:34074220-34074232 chr11:34073110-34073122 chr11:34073397-34073409 chr11:34074215-34074227
33	ETS1	chr11:34072896-34073472	K562	blood:	n/a	n/a
34	MYBL2	chr11:34072744-34074181	HepG2	liver:	n/a	n/a
35	YY1	chr11:34072821-34074373	HepG2	liver:	n/a	chr11:34073654-34073668 chr11:34073655-34073669 chr11:34073195-34073209
36	TCF12	chr11:34072416-34075352	A549	lung:	n/a	chr11:34073233-34073243 chr11:34072961-34072968
37	HEY1	chr11:34072828-34074160	K562	blood:	n/a	chr11:34073828-34073843
38	SP1	chr11:34072474-34074527	HCT-116	colon:	n/a	chr11:34072908-34072917 chr11:34073673-34073682 chr11:34074301-34074315 chr11:34073837-34073846 chr11:34072907-34072921 chr11:34072477-34072487 chr11:34073835-34073847 chr11:34074294-34074308 chr11:34072901-34072915 chr11:34073835-34073846 chr11:34073672-34073681 chr11:34072907-34072917 chr11:34073836-34073850 chr11:34073835-34073847
39	POLR2A	chr11:34072607-34075204	Raji	blood:	n/a	n/a
40	TCF12	chr11:34072887-34073468	GM12878	blood:	n/a	chr11:34073233-34073243 chr11:34072961-34072968
41	TBL1XR1	chr11:34072464-34073273	K562	blood:	n/a	n/a
42	ZNF384	chr11:34072666-34073357	K562	blood:	n/a	n/a
43	ELK1	chr11:34072918-34073372	GM12878	blood:	n/a	n/a
44	GABPA	chr11:34072891-34074374	K562	blood:	n/a	chr11:34073404-34073413 chr11:34073406-34073415 chr11:34073831-34073840
45	TAF1	chr11:34072934-34073372	PFSK-1	brain:	n/a	n/a
46	PBX3	chr11:34072757-34073517	A549	lung:	n/a	n/a
47	POLR2A	chr11:34072553-34075638	MCF10A-Er-Src	breast:	n/a	n/a
48	MYC	chr11:34072544-34073399	H1-hESC	embryonic stem cell:	n/a	n/a
49	UBTF	chr11:34072617-34075262	K562	blood:	n/a	n/a
50	NR2F2	chr11:34072826-34073371	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:34073002-34073052	AG09319	gingival:	n/a
2	chr11:34073002-34073052	HepG2	liver:	n/a
3	chr11:34073002-34073052	ProgFib	skin:	n/a
4	chr11:34073002-34073052	H1-hESC	embryonic stem cell:	embryo
5	chr11:34073002-34073052	T-47D	breast:	n/a
6	chr11:34073002-34073052	BE2_C	brain:	n/a
7	chr11:34073002-34073052	HAEpiC	amniotic membrane:	n/a
8	chr11:34073002-34073052	HRE	kidney:	n/a
9	chr11:34073002-34073052	SK-N-SH_RA	brain:	n/a
10	chr11:34073002-34073052	RPTEC	kidney:	n/a
11	chr11:34073002-34073052	AG04450	lung:	fetal
12	chr11:34073002-34073052	HCPEpiC	choroid plexus:	n/a
13	chr11:34073002-34073052	HCF	heart:	n/a
14	chr11:34073002-34073052	A549	lung:	n/a
15	chr11:34073002-34073052	GM12892	blood:	n/a
16	chr11:34073002-34073052	SK-N-MC	brain:	n/a
17	chr11:34073002-34073052	HCT-116	colon:	n/a
18	chr11:34073002-34073052	LNCaP	prostate:	n/a
19	chr11:34073002-34073052	HCM	heart:	n/a
20	chr11:34073002-34073052	HRCEpiC	kidney:	n/a
21	chr11:34073002-34073052	HMEC	breast:	n/a
22	chr11:34073002-34073052	NHBE	bronchial:	n/a
23	chr11:34073002-34073052	NB4	blood:	n/a
24	chr11:34073002-34073052	AG10803	skin:	n/a
25	chr11:34073002-34073052	HL-60	blood:	n/a
26	chr11:34073002-34073052	SKMC	muscle:	n/a
27	chr11:34073002-34073052	GM12891	blood:	n/a
28	chr11:34073002-34073052	MCF-7	breast:	n/a
29	chr11:34073002-34073052	HUVEC	blood vessel:	n/a
30	chr11:34073002-34073052	MCF10A-Er-Src	breast:	n/a
31	chr11:34073002-34073052	HPAEpiC	pulmonary alveolar:	n/a
32	chr11:34073002-34073052	HNPCEpiC	eye:	n/a
33	chr11:34073002-34073052	NT2-D1	testis:	n/a
34	chr11:34073002-34073052	PANC-1	pancreas:	n/a
35	chr11:34073002-34073052	Hela-S3	cervix:	n/a
36	chr11:34073002-34073052	Jurkat	blood:	n/a
37	chr11:34073002-34073052	AG04449	skin:	fetal
38	chr11:34073002-34073052	GM06990	blood:	n/a
39	chr11:34073002-34073052	GM19239	blood:	n/a
40	chr11:34073002-34073052	PFSK-1	brain:	n/a
41	chr11:34073002-34073052	SAEC	small airway:	n/a
42	chr11:34073002-34073052	IMR90	lung:	fetal
43	chr11:34073002-34073052	PrEC	prostate:	n/a
44	chr11:34073002-34073052	NHDF-neo	bronchial:	n/a
45	chr11:34073002-34073052	GM12878	blood:	n/a
46	chr11:34073002-34073052	Caco-2	colon:	n/a
47	chr11:34073002-34073052	AoSMC	blood vessel:	n/a
48	chr11:34073002-34073052	ovcar-3	ovarian:	n/a
49	chr11:34073002-34073052	HEEpiC	esophagus:	n/a
50	chr11:34073002-34073052	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:34072129..34073643-chr11:34109400..34112113,2	MCF-7	breast:
2	chr11:34072138..34074908-chr17:56707935..56709645,2	MCF-7	breast:
3	chr1:149222363..149225341-chr11:34071940..34074204,2	MCF-7	breast:
4	chr11:34072966..34075629-chr11:34112119..34114294,2	MCF-7	breast:
5	chr11:34072006..34079358-chr11:34124269..34129390,19	K562	blood:
6	chr11:34068673..34076707-chr11:34122442..34129826,21	K562	blood:
7	chr11:34070943..34077471-chr11:34125498..34130034,9	MCF-7	breast:
8	chr11:34071305..34076629-chr11:34124370..34130035,10	MCF-7	breast:
9	chr11:34071981..34076766-chr11:34377622..34383038,7	MCF-7	breast:

Variant related genes	Relation type
CAPRIN1	TF binding region
CAPRIN1	CpG island
ENSG00000212195	Chromatin interaction
ENSG00000135372	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000166016	Chromatin interaction
ENSG00000135387	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424593	chr11:34071901-34074749	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 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	chr11:34072200-34074000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:34072200-34075600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr11:34072200-34076200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr11:34072400-34073200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:34072400-34074000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:34072400-34074000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:34072400-34074000	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr11:34072400-34074000	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr11:34072400-34074200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:34072400-34074200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:34072400-34074200	Active TSS	Fetal Muscle Trunk	muscle
12	chr11:34072400-34074800	Active TSS	Colonic Mucosa	Colon
13	chr11:34072400-34075200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:34072400-34075200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:34072400-34075200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr11:34072400-34075400	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr11:34072400-34075400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:34072400-34075600	Active TSS	Psoas Muscle	Psoas
19	chr11:34072400-34075600	Active TSS	Right Ventricle	heart
20	chr11:34072400-34075800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:34072400-34075800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:34072400-34075800	Active TSS	HSMMtube	muscle
23	chr11:34072400-34076000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr11:34072400-34076000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:34072400-34076200	Active TSS	H9 Cell Line	embryonic stem cell
26	chr11:34072400-34076400	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr11:34072400-34076400	Active TSS	Fetal Brain Female	brain
28	chr11:34072400-34076400	Active TSS	GM12878-XiMat	blood
29	chr11:34072400-34076600	Active TSS	H1 Cell Line	embryonic stem cell
30	chr11:34072400-34076600	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr11:34072600-34073200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:34072600-34074000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:34072600-34074000	Active TSS	Muscle Satellite Cultured Cells	--
34	chr11:34072600-34074000	Active TSS	Brain Germinal Matrix	brain
35	chr11:34072600-34074200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:34072600-34074200	Active TSS	Fetal Intestine Small	intestine
37	chr11:34072600-34074400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:34072600-34074600	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr11:34072600-34074600	Active TSS	Brain Substantia Nigra	brain
40	chr11:34072600-34074800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:34072600-34074800	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr11:34072600-34075200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:34072600-34075200	Active TSS	Liver	Liver
44	chr11:34072600-34075200	Active TSS	Brain Anterior Caudate	brain
45	chr11:34072600-34075200	Active TSS	Brain Cingulate Gyrus	brain
46	chr11:34072600-34075200	Active TSS	Colon Smooth Muscle	Colon
47	chr11:34072600-34075200	Active TSS	Lung	lung
48	chr11:34072600-34075200	Active TSS	Pancreas	Pancrea
49	chr11:34072600-34075200	Active TSS	Rectal Smooth Muscle	rectum
50	chr11:34072600-34075400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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