Variant report

Variant	rs2332326
Chromosome Location	chr14:24835859-24835860
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	CHD1	chr14:24835840-24836538	GM12878	blood:	n/a	chr14:24835865-24835875
2	TAF1	chr14:24835697-24836793	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr14:24835171-24838793	SK-N-MC	brain:	n/a	n/a
4	SIN3AK20	chr14:24834707-24837100	MCF-7	breast:	n/a	n/a
5	HDAC2	chr14:24835735-24837034	HepG2	liver:	n/a	n/a
6	NR2F2	chr14:24834817-24837037	MCF-7	breast:	n/a	n/a
7	POLR2A	chr14:24834943-24836204	MCF-7	breast:	n/a	n/a
8	SP1	chr14:24834644-24837454	HCT-116	colon:	n/a	chr14:24836464-24836478 chr14:24835192-24835204 chr14:24835866-24835875 chr14:24836438-24836452 chr14:24837289-24837303 chr14:24837103-24837117 chr14:24835021-24835030 chr14:24835193-24835203 chr14:24836442-24836451 chr14:24835368-24835382 chr14:24835866-24835875 chr14:24835192-24835204 chr14:24837056-24837063 chr14:24836441-24836453 chr14:24836443-24836452 chr14:24835193-24835207 chr14:24835193-24835202 chr14:24835540-24835549 chr14:24835865-24835877 chr14:24836442-24836452 chr14:24835867-24835876 chr14:24835541-24835550 chr14:24837317-24837338 chr14:24835194-24835203 chr14:24836441-24836453
9	ZEB1	chr14:24835611-24836991	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:24835693-24837389	NB4	blood:	n/a	n/a
11	TEAD4	chr14:24835592-24836794	SK-N-SH	brain:	n/a	n/a
12	TBL1XR1	chr14:24835826-24836648	GM12878	blood:	n/a	n/a
13	PBX3	chr14:24834836-24837421	SK-N-SH	brain:	n/a	chr14:24837319-24837328 chr14:24835856-24835876
14	POLR2A	chr14:24835628-24836755	HUVEC	blood vessel:	n/a	n/a
15	CHD1	chr14:24834050-24838822	IMR90	lung:	n/a	chr14:24835865-24835875
16	POLR2A	chr14:24834712-24836862	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr14:24835592-24836236	U87	brain:	n/a	n/a
18	TCF7L2	chr14:24835103-24836269	Hela-S3	cervix:	n/a	chr14:24835466-24835480 chr14:24835467-24835481 chr14:24835468-24835478 chr14:24835470-24835479 chr14:24835466-24835482 chr14:24835466-24835482
19	HA-E2F1	chr14:24835798-24836394	MCF-7	breast:	n/a	chr14:24835845-24835854
20	POLR2A	chr14:24835817-24836190	K562	blood:	n/a	n/a
21	MAZ	chr14:24835852-24836816	K562	blood:	n/a	n/a
22	GATA3	chr14:24834707-24836970	MCF-7	breast:	n/a	n/a
23	POLR2A	chr14:24834867-24838188	HUVEC	blood vessel:	n/a	n/a
24	CCNT2	chr14:24835812-24836362	K562	blood:	n/a	chr14:24835867-24835876
25	FOXP2	chr14:24835801-24836194	PFSK-1	brain:	n/a	n/a
26	ZNF384	chr14:24835552-24837473	GM12878	blood:	n/a	n/a
27	HDAC2	chr14:24835795-24836951	MCF-7	breast:	n/a	n/a
28	POLR2A	chr14:24835768-24836682	GM19099	blood:	n/a	n/a
29	POLR2A	chr14:24835715-24836215	U87	brain:	n/a	n/a
30	STAT1	chr14:24835846-24836875	GM12878	blood:	n/a	n/a
31	SP1	chr14:24835797-24837342	H1-hESC	embryonic stem cell:	n/a	chr14:24836464-24836478 chr14:24835866-24835875 chr14:24836438-24836452 chr14:24837289-24837303 chr14:24837103-24837117 chr14:24836442-24836451 chr14:24835866-24835875 chr14:24837056-24837063 chr14:24836441-24836453 chr14:24836443-24836452 chr14:24835865-24835877 chr14:24836442-24836452 chr14:24835867-24835876 chr14:24837317-24837338 chr14:24836441-24836453
32	NFIC	chr14:24835699-24837193	GM12878	blood:	n/a	n/a
33	POLR2A	chr14:24835589-24836059	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr14:24834945-24836167	ProgFib	skin:	n/a	n/a
35	POLR2A	chr14:24834737-24836856	SK-N-SH	brain:	n/a	n/a
36	MYBL2	chr14:24835856-24837014	HepG2	liver:	n/a	chr14:24836143-24836153
37	POLR2A	chr14:24835771-24836186	MCF-7	breast:	n/a	n/a
38	POLR2A	chr14:24835586-24836236	U87	brain:	n/a	n/a
39	POLR2A	chr14:24835754-24836124	GM12878	blood:	n/a	n/a
40	MAX	chr14:24835766-24836073	GM12878	blood:	n/a	n/a
41	TCF12	chr14:24835736-24836878	A549	lung:	n/a	n/a
42	MAX	chr14:24835187-24837252	ECC-1	luminal epithelium:	n/a	chr14:24835199-24835209
43	POLR2A	chr14:24834888-24837326	Raji	blood:	n/a	n/a
44	FOXP2	chr14:24835742-24836211	PFSK-1	brain:	n/a	n/a
45	MAX	chr14:24834873-24836832	NB4	blood:	n/a	chr14:24835199-24835209
46	CUX1	chr14:24835779-24836704	GM12878	blood:	n/a	n/a
47	JUND	chr14:24834858-24837301	MCF-7	breast:	n/a	chr14:24835191-24835200 chr14:24835195-24835204 chr14:24836445-24836454 chr14:24836660-24836674 chr14:24835295-24835303 chr14:24835296-24835303 chr14:24836533-24836547
48	UBTF	chr14:24835674-24836041	K562	blood:	n/a	n/a
49	MAX	chr14:24834832-24836915	MCF-7	breast:	n/a	chr14:24835199-24835209
50	POLR2A	chr14:24835753-24835936	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24708705..24711391-chr14:24835145..24836827,2	MCF-7	breast:
2	chr14:24833553..24839988-chr14:24894553..24902357,9	K562	blood:
3	chr14:24827418..24850855-chr14:24894884..24913772,127	MCF-7	breast:
4	chr14:24834361..24836035-chr14:24881010..24881990,12	MCF-7	breast:
5	chr14:24796879..24804920-chr14:24831628..24840088,12	MCF-7	breast:
6	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
7	chr14:24833867..24840783-chr14:24879585..24886299,12	MCF-7	breast:
8	chr14:24831849..24834970-chr14:24835074..24838209,3	K562	blood:
9	chr14:24833707..24839988-chr14:24896546..24902736,10	K562	blood:
10	chr14:24710306..24713162-chr14:24834355..24837181,3	MCF-7	breast:
11	chr14:24770771..24773074-chr14:24835790..24837584,2	MCF-7	breast:
12	chr14:24805754..24808104-chr14:24833773..24836418,2	MCF-7	breast:
13	chr14:24834749..24836813-chr14:24843858..24845467,2	K562	blood:
14	chr14:24801495..24803055-chr14:24833652..24836395,3	MCF-7	breast:
15	chr14:24834871..24836574-chr14:24881595..24883605,2	MCF-7	breast:

Variant related genes	Relation type
NFATC4	TF binding region
ENSG00000100968	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000258973	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000205978	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10129213	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10141527	0.85[AFR][1000 genomes]
rs10151147	0.84[AFR][1000 genomes]
rs2332327	0.84[AFR][1000 genomes]
rs4982902	0.80[AFR][1000 genomes]

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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24834400-24836200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:24834400-24836400	Enhancers	HSMMtube	muscle
3	chr14:24834400-24836600	Enhancers	Fetal Heart	heart
4	chr14:24834600-24836000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
5	chr14:24834800-24836600	Bivalent Enhancer	Fetal Brain Male	brain
6	chr14:24834800-24837200	Flanking Active TSS	HUVEC	blood vessel
7	chr14:24834800-24837200	Flanking Active TSS	NHEK	skin
8	chr14:24834800-24838000	Flanking Bivalent TSS/Enh	HepG2	liver
9	chr14:24834800-24838400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr14:24834800-24838800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr14:24835000-24836000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr14:24835000-24836200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
13	chr14:24835000-24836600	Active TSS	Right Ventricle	heart
14	chr14:24835000-24836800	Flanking Active TSS	Fetal Muscle Leg	muscle
15	chr14:24835000-24836800	Flanking Active TSS	Fetal Thymus	thymus
16	chr14:24835000-24837000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:24835000-24837000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:24835000-24837200	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr14:24835000-24837600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:24835000-24837800	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr14:24835000-24837800	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr14:24835000-24838200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr14:24835000-24838200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr14:24835000-24838400	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr14:24835000-24838400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:24835000-24838400	Active TSS	Ovary	ovary
27	chr14:24835000-24838600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:24835000-24838600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:24835000-24838600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr14:24835000-24838800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr14:24835000-24838800	Active TSS	Fetal Kidney	kidney
32	chr14:24835200-24836000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:24835200-24836000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:24835200-24836400	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:24835200-24836400	Bivalent/Poised TSS	Fetal Brain Female	brain
36	chr14:24835200-24836400	Flanking Active TSS	Placenta	Placenta
37	chr14:24835200-24836600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
38	chr14:24835200-24836600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
39	chr14:24835200-24836600	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr14:24835200-24836600	Flanking Active TSS	HMEC	breast
41	chr14:24835200-24836800	Weak transcription	Liver	Liver
42	chr14:24835200-24837200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:24835200-24837600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:24835200-24838400	Active TSS	Aorta	Aorta
45	chr14:24835200-24838600	Active TSS	Right Atrium	heart
46	chr14:24835200-24839200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:24835400-24836000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
48	chr14:24835400-24836000	Active TSS	Psoas Muscle	Psoas
49	chr14:24835400-24836000	Active TSS	A549	lung
50	chr14:24835400-24836000	Active TSS	NH-A	brain

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