Variant report

Variant	rs45565135
Chromosome Location	chr14:24837668-24837669
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	POLR2A	chr14:24835171-24838793	SK-N-MC	brain:	n/a	n/a
2	CHD1	chr14:24834050-24838822	IMR90	lung:	n/a	chr14:24835865-24835875
3	POLR2A	chr14:24834867-24838188	HUVEC	blood vessel:	n/a	n/a
4	PML	chr14:24837349-24837715	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:24834875-24838597	IMR90	lung:	n/a	n/a
6	MTA3	chr14:24837391-24837693	GM12878	blood:	n/a	n/a
7	CHD1	chr14:24837465-24837683	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr14:24837547-24838240	GM12878	blood:	n/a	n/a
9	POLR2A	chr14:24837627-24838289	NB4	blood:	n/a	n/a
10	MTA3	chr14:24837241-24837694	GM12878	blood:	n/a	n/a
11	TCF7L2	chr14:24834850-24837804	HCT-116	colon:	n/a	chr14:24835466-24835480 chr14:24835467-24835481 chr14:24835468-24835478 chr14:24835470-24835479 chr14:24835466-24835482 chr14:24835466-24835482
12	SIN3A	chr14:24834876-24838748	H1-hESC	embryonic stem cell:	n/a	chr14:24837936-24837945 chr14:24837973-24837982 chr14:24836086-24836099 chr14:24835902-24835915
13	CHD2	chr14:24835714-24838514	GM12878	blood:	n/a	chr14:24835865-24835875
14	ZBTB7A	chr14:24835684-24838645	ECC-1	luminal epithelium:	n/a	chr14:24837803-24837811 chr14:24836772-24836786 chr14:24838030-24838039
15	SIN3AK20	chr14:24837458-24838327	H1-hESC	embryonic stem cell:	n/a	n/a
16	ELF1	chr14:24837345-24838537	GM12878	blood:	n/a	chr14:24837419-24837428
17	ZBTB7A	chr14:24834907-24838538	ECC-1	luminal epithelium:	n/a	chr14:24837803-24837811 chr14:24836772-24836786 chr14:24838030-24838039
18	MAZ	chr14:24834812-24838705	IMR90	lung:	n/a	chr14:24837432-24837442 chr14:24837797-24837807 chr14:24835199-24835209 chr14:24837336-24837346 chr14:24837503-24837513
19	MAZ	chr14:24835685-24838477	GM12878	blood:	n/a	chr14:24837432-24837442 chr14:24837797-24837807 chr14:24837336-24837346 chr14:24837503-24837513
20	ZBTB7A	chr14:24837385-24838316	K562	blood:	n/a	chr14:24837803-24837811 chr14:24838030-24838039
21	POLR2A	chr14:24837642-24838507	H1-hESC	embryonic stem cell:	n/a	n/a
22	MXI1	chr14:24834918-24838667	IMR90	lung:	n/a	chr14:24838289-24838304
23	ZBTB7A	chr14:24837557-24837728	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24833553..24839988-chr14:24894553..24902357,9	K562	blood:
2	chr14:24827418..24850855-chr14:24894884..24913772,127	MCF-7	breast:
3	chr14:24836714..24839783-chr14:24910555..24913487,3	K562	blood:
4	chr14:24796879..24804920-chr14:24831628..24840088,12	MCF-7	breast:
5	chr14:24836675..24839120-chr14:24840231..24842410,2	K562	blood:
6	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
7	chr14:24837386..24841607-chr14:24843315..24846573,5	K562	blood:
8	chr14:24833867..24840783-chr14:24879585..24886299,12	MCF-7	breast:
9	chr14:24831849..24834970-chr14:24835074..24838209,3	K562	blood:
10	chr14:24833707..24839988-chr14:24896546..24902736,10	K562	blood:
11	chr14:24820066..24821723-chr14:24836134..24837695,2	K562	blood:

Variant related genes	Relation type
NFATC4	TF binding region
ENSG00000129467	Chromatin interaction
ENSG00000205978	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000207141	Chromatin interaction
ENSG00000100968	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10362	0.87[ASN][1000 genomes]
rs11158663	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12431836	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28365903	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7148384	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7158837	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24834800-24838000	Flanking Bivalent TSS/Enh	HepG2	liver
2	chr14:24834800-24838400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:24834800-24838800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr14:24835000-24837800	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr14:24835000-24837800	Flanking Active TSS	Brain Germinal Matrix	brain
6	chr14:24835000-24838200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr14:24835000-24838200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr14:24835000-24838400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr14:24835000-24838400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:24835000-24838400	Active TSS	Ovary	ovary
11	chr14:24835000-24838600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:24835000-24838600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:24835000-24838600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr14:24835000-24838800	Active TSS	H9 Cell Line	embryonic stem cell
15	chr14:24835000-24838800	Active TSS	Fetal Kidney	kidney
16	chr14:24835200-24838400	Active TSS	Aorta	Aorta
17	chr14:24835200-24838600	Active TSS	Right Atrium	heart
18	chr14:24835200-24839200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:24835400-24838200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:24835400-24838200	Active TSS	Brain Angular Gyrus	brain
21	chr14:24835400-24838400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr14:24835400-24838400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:24835400-24838400	Active TSS	Placenta Amnion	Placenta Amnion
24	chr14:24835400-24838600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:24835600-24838200	Active TSS	H1 Cell Line	embryonic stem cell
26	chr14:24835600-24838200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:24835600-24838200	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr14:24835600-24838400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:24835600-24838400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:24835600-24838400	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr14:24835800-24837800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:24835800-24838200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:24835800-24838600	Active TSS	Gastric	stomach
34	chr14:24836000-24837800	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr14:24836000-24838400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr14:24836200-24838200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr14:24836200-24838400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:24836200-24838600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
39	chr14:24836200-24838600	Enhancers	Spleen	Spleen
40	chr14:24836400-24837800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
41	chr14:24836400-24838200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:24836400-24838400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
43	chr14:24836600-24837800	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr14:24836600-24837800	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr14:24836600-24837800	Flanking Active TSS	Fetal Intestine Small	intestine
46	chr14:24836600-24838000	Flanking Active TSS	Placenta	Placenta
47	chr14:24836600-24838000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr14:24836600-24838600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
49	chr14:24836800-24837800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:24836800-24837800	Enhancers	Liver	Liver

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