Variant report

Variant	rs116408939
Chromosome Location	chr11:34072767-34072768
allele	G/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	PML	chr11:34072680-34075311	GM12878	blood:	n/a	n/a
2	CHD2	chr11:34072718-34073435	K562	blood:	n/a	n/a
3	CHD1	chr11:34072595-34073415	GM12878	blood:	n/a	n/a
4	TBP	chr11:34072470-34075318	K562	blood:	n/a	n/a
5	POLR2A	chr11:34072650-34075272	ProgFib	skin:	n/a	n/a
6	JUND	chr11:34072712-34074057	K562	blood:	n/a	n/a
7	CHD2	chr11:34072676-34075278	Hela-S3	cervix:	n/a	n/a
8	EBF1	chr11:34072675-34074028	GM12878	blood:	n/a	n/a
9	HEY1	chr11:34072719-34074125	HepG2	liver:	n/a	chr11:34073828-34073843
10	RELA	chr11:34072695-34075299	GM12891	blood:	n/a	n/a
11	CREB1	chr11:34072744-34075289	HepG2	liver:	n/a	n/a
12	SIN3AK20	chr11:34072737-34074221	HCT-116	colon:	n/a	n/a
13	POLR2A	chr11:34072350-34074205	HUVEC	blood vessel:	n/a	n/a
14	TAF1	chr11:34072652-34073495	H1-neurons	neurons:	n/a	n/a
15	MYBL2	chr11:34072744-34074181	HepG2	liver:	n/a	n/a
16	TCF12	chr11:34072416-34075352	A549	lung:	n/a	chr11:34073233-34073243 chr11:34072961-34072968
17	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
18	POLR2A	chr11:34072607-34075204	Raji	blood:	n/a	n/a
19	TBL1XR1	chr11:34072464-34073273	K562	blood:	n/a	n/a
20	PAX5	chr11:34072543-34072808	GM12878	blood:	n/a	chr11:34072701-34072710
21	ZNF384	chr11:34072666-34073357	K562	blood:	n/a	n/a
22	PBX3	chr11:34072757-34073517	A549	lung:	n/a	n/a
23	POLR2A	chr11:34072553-34075638	MCF10A-Er-Src	breast:	n/a	n/a
24	MYC	chr11:34072544-34073399	H1-hESC	embryonic stem cell:	n/a	n/a
25	UBTF	chr11:34072617-34075262	K562	blood:	n/a	n/a
26	HEY1	chr11:34072625-34074156	HepG2	liver:	n/a	chr11:34073828-34073843
27	E2F6	chr11:34072623-34074272	K562	blood:	n/a	chr11:34073831-34073840 chr11:34073210-34073222 chr11:34073404-34073419 chr11:34073673-34073682 chr11:34073658-34073667 chr11:34074194-34074209
28	SIN3A	chr11:34072415-34075452	H1-hESC	embryonic stem cell:	n/a	chr11:34073371-34073382 chr11:34073459-34073472 chr11:34075026-34075037
29	TAF1	chr11:34072581-34072818	H1-hESC	embryonic stem cell:	n/a	n/a
30	PAX5	chr11:34072567-34072847	GM12878	blood:	n/a	chr11:34072701-34072710
31	MAZ	chr11:34072689-34075413	GM12878	blood:	n/a	chr11:34074478-34074488
32	MAX	chr11:34072629-34074204	HepG2	liver:	n/a	n/a
33	NFIC	chr11:34072695-34073368	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr11:34072598-34075335	Hela-S3	cervix:	n/a	n/a
35	PAX5	chr11:34072369-34072929	GM12878	blood:	n/a	chr11:34072701-34072710
36	POLR2A	chr11:34072350-34075511	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr11:34072670-34074205	HCT-116	colon:	n/a	n/a
38	BHLHE40	chr11:34072627-34074539	K562	blood:	n/a	chr11:34073259-34073275
39	POLR2A	chr11:34072014-34075240	U87	brain:	n/a	n/a
40	TAF1	chr11:34072759-34073547	A549	lung:	n/a	n/a
41	POLR2A	chr11:34072465-34074177	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr11:34071825-34075659	GM12891	blood:	n/a	n/a
43	RELA	chr11:34072629-34073477	GM15510	blood:	n/a	n/a
44	POLR2A	chr11:34072688-34075214	GM18951	blood:	n/a	n/a
45	POLR2A	chr11:34072521-34075393	K562	blood:	n/a	n/a
46	POLR2A	chr11:34072631-34075281	MCF-7	breast:	n/a	n/a
47	MAX	chr11:34072551-34075458	A549	lung:	n/a	chr11:34074995-34075005 chr11:34074478-34074488
48	POLR2A	chr11:34072622-34075205	K562	blood:	n/a	n/a
49	SP1	chr11:34072638-34073525	A549	lung:	n/a	chr11:34072908-34072917 chr11:34072907-34072921 chr11:34072901-34072915 chr11:34072907-34072917
50	TBL1XR1	chr11:34072622-34074134	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:34042157..34043774-chr11:34070520..34073015,2	MCF-7	breast:
2	chr11:34072129..34073643-chr11:34109400..34112113,2	MCF-7	breast:
3	chr11:34072138..34074908-chr17:56707935..56709645,2	MCF-7	breast:
4	chr1:149222363..149225341-chr11:34071940..34074204,2	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
ENSG00000135387	Chromatin interaction
ENSG00000135372	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000166016	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34071800-34072800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:34071800-34072800	Flanking Active TSS	K562	blood
3	chr11:34072000-34072800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:34072000-34072800	Flanking Active TSS	Dnd41	blood
5	chr11:34072200-34072800	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr11:34072200-34072800	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr11:34072200-34072800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr11:34072200-34072800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:34072200-34072800	Flanking Active TSS	Hela-S3	cervix
10	chr11:34072200-34072800	Flanking Active TSS	HUVEC	blood vessel
11	chr11:34072200-34072800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr11:34072200-34072800	Flanking Active TSS	NHEK	skin
13	chr11:34072200-34073000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:34072200-34074000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:34072200-34075600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:34072200-34076200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr11:34072400-34072800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr11:34072400-34072800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr11:34072400-34072800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr11:34072400-34072800	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr11:34072400-34072800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr11:34072400-34072800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr11:34072400-34072800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr11:34072400-34072800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:34072400-34072800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr11:34072400-34072800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:34072400-34072800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr11:34072400-34072800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr11:34072400-34072800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:34072400-34072800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr11:34072400-34072800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:34072400-34072800	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr11:34072400-34072800	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr11:34072400-34072800	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr11:34072400-34072800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr11:34072400-34072800	Flanking Active TSS	Fetal Brain Male	brain
37	chr11:34072400-34072800	Flanking Active TSS	Fetal Intestine Large	intestine
38	chr11:34072400-34072800	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr11:34072400-34072800	Flanking Active TSS	Fetal Stomach	stomach
40	chr11:34072400-34072800	Flanking Active TSS	Thymus	Thymus
41	chr11:34072400-34072800	Flanking Active TSS	HMEC	breast
42	chr11:34072400-34072800	Flanking Active TSS	HSMM	muscle
43	chr11:34072400-34072800	Flanking Active TSS	NH-A	brain
44	chr11:34072400-34072800	Flanking Active TSS	NHDF-Ad	bronchial
45	chr11:34072400-34072800	Flanking Active TSS	NHLF	lung
46	chr11:34072400-34072800	Flanking Active TSS	Osteobl	bone
47	chr11:34072400-34073000	Active TSS	Right Atrium	heart
48	chr11:34072400-34073200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:34072400-34074000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:34072400-34074000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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