Variant report

Variant	rs11549700
Chromosome Location	chr14:24664174-24664175
allele	A/C
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	GABPA	chr14:24664165-24665520	MCF-7	breast:	n/a	n/a
2	MAX	chr14:24663979-24665950	HCT-116	colon:	n/a	chr14:24664488-24664497 chr14:24664484-24664493
3	SMARCB1	chr14:24664010-24665539	Hela-S3	cervix:	n/a	n/a
4	REST	chr14:24663804-24665600	H1-neurons	neurons:	n/a	chr14:24664975-24664988 chr14:24665151-24665160 chr14:24664792-24664805
5	POLR2A	chr14:24663854-24665646	MCF-7	breast:	n/a	n/a
6	JUN	chr14:24664164-24665318	K562	blood:	n/a	chr14:24664336-24664345
7	HA-E2F1	chr14:24663984-24665079	MCF-7	breast:	n/a	chr14:24664523-24664535 chr14:24664587-24664599 chr14:24664523-24664534 chr14:24664550-24664565 chr14:24664574-24664584 chr14:24664712-24664722
8	CREB1	chr14:24663714-24666046	HepG2	liver:	n/a	n/a
9	RUNX3	chr14:24664061-24665611	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:24663988-24665819	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr14:24663324-24667470	HepG2	liver:	n/a	n/a
12	MAX	chr14:24664153-24666002	K562	blood:	n/a	chr14:24664488-24664497 chr14:24664484-24664493
13	MAX	chr14:24664134-24665391	HCT-116	colon:	n/a	chr14:24664488-24664497 chr14:24664484-24664493
14	E2F6	chr14:24663923-24665422	H1-hESC	embryonic stem cell:	n/a	chr14:24664523-24664535 chr14:24664552-24664563 chr14:24664587-24664599 chr14:24665381-24665388 chr14:24664550-24664565 chr14:24664574-24664584 chr14:24664522-24664533 chr14:24664712-24664722
15	BCL3	chr14:24664026-24665108	A549	lung:	n/a	chr14:24664434-24664447 chr14:24664573-24664586 chr14:24664902-24664911 chr14:24664796-24664809
16	POLR2A	chr14:24663914-24665365	H1-neurons	neurons:	n/a	n/a
17	MAX	chr14:24664170-24665671	SK-N-SH	brain:	n/a	chr14:24664488-24664497 chr14:24664484-24664493
18	E2F6	chr14:24663880-24665865	K562	blood:	n/a	chr14:24665491-24665498 chr14:24664523-24664535 chr14:24664552-24664563 chr14:24664587-24664599 chr14:24665381-24665388 chr14:24664550-24664565 chr14:24664574-24664584 chr14:24664522-24664533 chr14:24664712-24664722
19	HCFC1	chr14:24663864-24666214	Hela-S3	cervix:	n/a	n/a
20	MAX	chr14:24664149-24665513	ECC-1	luminal epithelium:	n/a	chr14:24664488-24664497 chr14:24664484-24664493
21	ELF1	chr14:24664156-24665632	HCT-116	colon:	n/a	chr14:24664901-24664914
22	NFYA	chr14:24664056-24664233	GM12878	blood:	n/a	n/a
23	POLR2A	chr14:24663998-24665906	K562	blood:	n/a	n/a
24	POLR2A	chr14:24664035-24666047	HL-60	blood:	n/a	n/a
25	MAX	chr14:24663922-24665801	A549	lung:	n/a	chr14:24664488-24664497 chr14:24664484-24664493
26	HDAC2	chr14:24664132-24665953	HepG2	liver:	n/a	n/a
27	NFYB	chr14:24664161-24664366	GM12878	blood:	n/a	n/a
28	FOXA1	chr14:24663856-24665157	HepG2	liver:	n/a	n/a
29	TCF12	chr14:24664152-24665476	A549	lung:	n/a	n/a
30	POLR2A	chr14:24664094-24665965	MCF10A-Er-Src	breast:	n/a	n/a
31	RUNX3	chr14:24664056-24665220	GM12878	blood:	n/a	n/a
32	NFIC	chr14:24663885-24666047	HepG2	liver:	n/a	n/a
33	BHLHE40	chr14:24664156-24665929	GM12878	blood:	n/a	chr14:24664973-24664989 chr14:24664708-24664724
34	MAZ	chr14:24663466-24665807	IMR90	lung:	n/a	chr14:24664488-24664497 chr14:24664484-24664493
35	POLR2A	chr14:24663726-24665936	SK-N-MC	brain:	n/a	n/a
36	MBD4	chr14:24663109-24666018	HepG2	liver:	n/a	n/a
37	MYBL2	chr14:24663557-24666134	HepG2	liver:	n/a	n/a
38	MYBL2	chr14:24663786-24666108	HepG2	liver:	n/a	n/a
39	HDAC2	chr14:24663982-24665748	MCF-7	breast:	n/a	n/a
40	POLR2A	chr14:24664109-24665644	Hela-S3	cervix:	n/a	n/a
41	MAX	chr14:24663739-24666119	HepG2	liver:	n/a	chr14:24664488-24664497 chr14:24664484-24664493
42	SIN3AK20	chr14:24664162-24665627	HepG2	liver:	n/a	n/a
43	MBD4	chr14:24663838-24666020	HepG2	liver:	n/a	n/a
44	MAX	chr14:24664100-24665674	A549	lung:	n/a	chr14:24664488-24664497 chr14:24664484-24664493
45	MAX	chr14:24664093-24665498	H1-hESC	embryonic stem cell:	n/a	chr14:24664488-24664497 chr14:24664484-24664493
46	FOSL2	chr14:24663803-24665940	HepG2	liver:	n/a	chr14:24664336-24664345
47	POLR2A	chr14:24663783-24666177	H1-hESC	embryonic stem cell:	n/a	n/a
48	JUND	chr14:24663861-24665457	MCF-7	breast:	n/a	chr14:24664336-24664345
49	TEAD4	chr14:24664033-24666081	HepG2	liver:	n/a	n/a
50	MAX	chr14:24664127-24665348	A549	lung:	n/a	chr14:24664488-24664497 chr14:24664484-24664493

No.	Distal block	Cell Line	Cell type
1	chr14:24663653..24665902-chr14:24759209..24762065,2	MCF-7	breast:
2	chr14:24608474..24613065-chr14:24662221..24666729,4	K562	blood:
3	chr14:24581893..24584671-chr14:24663785..24666116,3	K562	blood:
4	chr14:24663072..24666624-chr14:24679241..24683731,7	K562	blood:
5	chr14:24663295..24665382-chr14:24899130..24900830,2	MCF-7	breast:
6	chr14:24662821..24665398-chr7:44837592..44839696,2	MCF-7	breast:
7	chr14:24614938..24617925-chr14:24664131..24667025,3	K562	blood:
8	chr14:24662549..24668200-chr14:24676089..24685150,15	K562	blood:
9	chr14:24663873..24666575-chr14:24674141..24676718,3	K562	blood:
10	chr14:24663376..24665996-chr14:24700353..24703613,3	K562	blood:
11	chr14:24603940..24606871-chr14:24663780..24665844,2	K562	blood:
12	chr14:24614938..24617925-chr14:24664131..24665791,2	K562	blood:
13	chr14:24663694..24665415-chr17:57915311..57917797,2	MCF-7	breast:
14	chr14:24662397..24665373-chr14:24674141..24675902,2	K562	blood:
15	chr14:24564247..24566666-chr14:24663194..24664723,2	K562	blood:
16	chr14:24663122..24665767-chr20:45983902..45986395,2	MCF-7	breast:
17	chr14:24655120..24666858-chr14:24765577..24776253,24	MCF-7	breast:
18	chr14:24581771..24583991-chr14:24662920..24665943,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259522	TF binding region
TM9SF1	TF binding region
ENSG00000129559	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000259321	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000196262	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000092010	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000255526	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000139908	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000139899	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2025256	1.00[JPT][hapmap]
rs3759622	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv3357679	chr14:24663762-24666260	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24663200-24664400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:24663400-24664200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:24663400-24664200	Flanking Active TSS	Brain Hippocampus Middle	brain
4	chr14:24663400-24664200	Enhancers	Small Intestine	intestine
5	chr14:24663400-24664400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:24663400-24664400	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr14:24663400-24664400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr14:24663400-24664400	Flanking Active TSS	Brain Angular Gyrus	brain
9	chr14:24663400-24664400	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr14:24663400-24664400	Flanking Active TSS	NH-A	brain
11	chr14:24663400-24664400	Flanking Active TSS	NHEK	skin
12	chr14:24663400-24664600	Flanking Active TSS	HMEC	breast
13	chr14:24663600-24664200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:24663600-24664200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:24663600-24664200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr14:24663600-24664200	Flanking Active TSS	Fetal Brain Female	brain
17	chr14:24663600-24664200	Flanking Active TSS	NHLF	lung
18	chr14:24663600-24664400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:24663600-24664400	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr14:24663600-24664400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr14:24663600-24664400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr14:24663600-24664400	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr14:24663600-24664400	Flanking Active TSS	Osteobl	bone
24	chr14:24663600-24664600	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr14:24663600-24664600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:24663600-24664600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr14:24663600-24664600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr14:24663600-24664600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr14:24663600-24665200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
30	chr14:24663600-24666600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:24663800-24664200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:24663800-24664200	Enhancers	Primary hematopoietic stem cells	blood
33	chr14:24663800-24664200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:24663800-24664200	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr14:24663800-24664200	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr14:24663800-24664200	Flanking Active TSS	Esophagus	oesophagus
37	chr14:24663800-24664200	Flanking Active TSS	Fetal Brain Male	brain
38	chr14:24663800-24664200	Flanking Active TSS	Fetal Heart	heart
39	chr14:24663800-24664200	Transcr. at gene 5' and 3'	Fetal Lung	lung
40	chr14:24663800-24664200	Flanking Active TSS	Psoas Muscle	Psoas
41	chr14:24663800-24664200	Flanking Active TSS	Right Ventricle	heart
42	chr14:24663800-24664200	Flanking Active TSS	Thymus	Thymus
43	chr14:24663800-24664200	Flanking Active TSS	HSMMtube	muscle
44	chr14:24663800-24664200	Flanking Active TSS	NHDF-Ad	bronchial
45	chr14:24663800-24664400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:24663800-24664400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:24663800-24664400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr14:24663800-24664400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr14:24663800-24664400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr14:24663800-24664400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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