Variant report

Variant	rs6573607
Chromosome Location	chr14:24657407-24657408
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	SMC3	chr14:24657385-24658369	Hela-S3	cervix:	n/a	n/a
2	MBD4	chr14:24656692-24659174	HepG2	liver:	n/a	n/a
3	ELF1	chr14:24657359-24658434	MCF-7	breast:	n/a	chr14:24658065-24658078
4	TCF3	chr14:24657316-24658322	GM12878	blood:	n/a	chr14:24657472-24657485
5	MAX	chr14:24657317-24658359	NB4	blood:	n/a	chr14:24657647-24657654 chr14:24658045-24658052 chr14:24657648-24657657 chr14:24657646-24657655 chr14:24658044-24658053
6	MAX	chr14:24657304-24658438	A549	lung:	n/a	chr14:24657647-24657654 chr14:24658045-24658052 chr14:24657648-24657657 chr14:24657646-24657655 chr14:24658044-24658053
7	POLR2A	chr14:24657384-24658387	HCT-116	colon:	n/a	n/a
8	POLR2A	chr14:24657310-24658411	MCF-7	breast:	n/a	n/a
9	MBD4	chr14:24657149-24658535	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:24656805-24658478	K562	blood:	n/a	n/a
11	PML	chr14:24657363-24658512	GM12878	blood:	n/a	n/a
12	MYBL2	chr14:24657117-24658629	HepG2	liver:	n/a	n/a
13	MAX	chr14:24657156-24658372	MCF-7	breast:	n/a	chr14:24657647-24657654 chr14:24658045-24658052 chr14:24657648-24657657 chr14:24657646-24657655 chr14:24658044-24658053
14	POLR2A	chr14:24657266-24658408	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr14:24657293-24658363	HepG2	liver:	n/a	n/a
16	SIN3A	chr14:24657250-24658364	H1-hESC	embryonic stem cell:	n/a	chr14:24657670-24657681
17	TAF1	chr14:24657326-24658436	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr14:24656930-24658408	HepG2	liver:	n/a	chr14:24657647-24657654 chr14:24658045-24658052 chr14:24657648-24657657 chr14:24657646-24657655 chr14:24658044-24658053
19	MAX	chr14:24657368-24658336	Hela-S3	cervix:	n/a	chr14:24657647-24657654 chr14:24658045-24658052 chr14:24657648-24657657 chr14:24657646-24657655 chr14:24658044-24658053
20	MAX	chr14:24657183-24658511	HCT-116	colon:	n/a	chr14:24657647-24657654 chr14:24658045-24658052 chr14:24657648-24657657 chr14:24657646-24657655 chr14:24658044-24658053
21	POLR2A	chr14:24657357-24658341	GM12892	blood:	n/a	n/a
22	HCFC1	chr14:24657057-24658634	Hela-S3	cervix:	n/a	n/a
23	PBX3	chr14:24657378-24658403	A549	lung:	n/a	n/a
24	POLR2A	chr14:24656828-24660066	HepG2	liver:	n/a	n/a
25	POLR2A	chr14:24657344-24658405	PANC-1	pancreas:	n/a	n/a
26	MXI1	chr14:24657380-24658371	HepG2	liver:	n/a	n/a
27	POLR2A	chr14:24657394-24658362	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr14:24657402-24658339	Raji	blood:	n/a	n/a
29	CEBPD	chr14:24657376-24658344	HepG2	liver:	n/a	n/a
30	CTCF	chr14:24657400-24657550	HRE	kidney:	n/a	n/a
31	MAX	chr14:24657293-24658306	K562	blood:	n/a	chr14:24657647-24657654 chr14:24658045-24658052 chr14:24657648-24657657 chr14:24657646-24657655 chr14:24658044-24658053
32	JUN	chr14:24657355-24658521	K562	blood:	n/a	n/a
33	E2F6	chr14:24657388-24658415	A549	lung:	n/a	chr14:24657518-24657528 chr14:24657876-24657883 chr14:24657876-24657883 chr14:24657876-24657883
34	POLR2A	chr14:24657266-24658416	GM12892	blood:	n/a	n/a
35	ELF1	chr14:24657324-24658415	HepG2	liver:	n/a	chr14:24658065-24658078
36	POLR2A	chr14:24657189-24658367	HEK293	kidney:	n/a	n/a
37	MXI1	chr14:24657381-24658361	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr14:24657261-24658346	GM12878	blood:	n/a	n/a
39	MAX	chr14:24657306-24658406	ECC-1	luminal epithelium:	n/a	chr14:24657647-24657654 chr14:24658045-24658052 chr14:24657648-24657657 chr14:24657646-24657655 chr14:24658044-24658053
40	GABPA	chr14:24657188-24658930	MCF-7	breast:	n/a	n/a
41	POLR2A	chr14:24657318-24658352	GM12891	blood:	n/a	n/a
42	POLR2A	chr14:24657240-24658357	K562	blood:	n/a	n/a
43	MAZ	chr14:24656721-24658569	IMR90	lung:	n/a	chr14:24657647-24657654 chr14:24658045-24658052 chr14:24657648-24657657 chr14:24657646-24657655 chr14:24658044-24658053
44	POLR2A	chr14:24657383-24658361	ProgFib	skin:	n/a	n/a
45	JUND	chr14:24657230-24658324	HepG2	liver:	n/a	n/a
46	SIN3AK20	chr14:24657323-24658317	K562	blood:	n/a	n/a
47	TEAD4	chr14:24657160-24658727	HepG2	liver:	n/a	n/a
48	POLR2A	chr14:24657348-24658425	GM12892	blood:	n/a	n/a
49	HDAC2	chr14:24657258-24658406	MCF-7	breast:	n/a	n/a
50	TAF1	chr14:24657403-24657748	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24655487..24659760-chr14:24674840..24680491,9	MCF-7	breast:
2	chr14:24657069..24662255-chr14:24679017..24683823,7	K562	blood:
3	chr14:24634103..24636921-chr14:24656610..24658137,3	K562	blood:
4	chr14:24657069..24659757-chr14:24681163..24683823,2	K562	blood:
5	chr14:24656006..24657635-chr14:24902151..24905005,2	MCF-7	breast:
6	chr14:24581352..24586794-chr14:24656349..24659951,9	MCF-7	breast:
7	chr14:24655787..24658216-chr14:24740858..24744211,3	K562	blood:
8	chr14:24656467..24658398-chr14:24732926..24735303,2	MCF-7	breast:
9	chr14:24655312..24660662-chr14:24700172..24703885,7	MCF-7	breast:
10	chr14:24629462..24633065-chr14:24656618..24659351,3	K562	blood:
11	chr11:71158745..71161047-chr14:24656517..24659263,2	MCF-7	breast:
12	chr14:24656442..24659058-chr14:24740338..24741851,2	MCF-7	breast:
13	chr14:24614878..24617313-chr14:24657091..24660005,3	K562	blood:
14	chr14:24026023..24030231-chr14:24656476..24659389,3	MCF-7	breast:
15	chr14:24634478..24636921-chr14:24656618..24658137,2	K562	blood:
16	chr14:24563470..24565156-chr14:24656534..24660017,3	K562	blood:
17	chr14:24641149..24643201-chr14:24656538..24659107,2	K562	blood:
18	chr14:24601126..24603533-chr14:24656330..24657992,2	K562	blood:
19	chr14:24655775..24658265-chr14:24801236..24803229,2	MCF-7	breast:
20	chr14:24654479..24657858-chr14:24783212..24786979,3	K562	blood:
21	chr14:24656637..24660595-chr14:24683855..24686255,4	K562	blood:
22	chr14:24655837..24658282-chr14:24904503..24906148,2	K562	blood:
23	chr14:24615813..24618172-chr14:24656999..24660005,5	K562	blood:
24	chr14:24653860..24661964-chr14:24680820..24687057,41	MCF-7	breast:
25	chr14:24655120..24666858-chr14:24765577..24776253,24	MCF-7	breast:
26	chr14:24629833..24630577-chr14:24657173..24657821,2	MCF-7	breast:
27	chr14:24628862..24633065-chr14:24656261..24659048,5	K562	blood:
28	chr14:23790288..23791874-chr14:24656681..24658502,2	MCF-7	breast:
29	chr14:24656097..24659538-chr14:24709665..24713530,7	MCF-7	breast:

Variant related genes	Relation type
IPO4	TF binding region
ENSG00000139908	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000255526	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000254682	Chromatin interaction
ENSG00000259431	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000129559	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000213983	Chromatin interaction
ENSG00000092295	Chromatin interaction
ENSG00000213903	Chromatin interaction
ENSG00000100918	Chromatin interaction
ENSG00000100836	Chromatin interaction
ENSG00000268702	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000172893	Chromatin interaction
ENSG00000139914	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000100441	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11622031	0.96[CEU][hapmap];0.81[GIH][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs11622481	1.00[JPT][hapmap]
rs12588742	0.84[YRI][hapmap]
rs1885710	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1885711	0.89[CEU][hapmap];0.88[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2031101	0.85[AMR][1000 genomes]
rs2234095	0.91[YRI][hapmap]
rs2295979	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3742504	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4982862	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7145633	0.85[GIH][hapmap];0.90[MEX][hapmap];0.94[MKK][hapmap]
rs7158286	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	esv1804053	chr14:24642785-24660721	Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 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	chr14:24654600-24657600	Weak transcription	Aorta	Aorta
2	chr14:24656600-24657600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:24656600-24657600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr14:24656600-24657600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:24656600-24657600	Transcr. at gene 5' and 3'	HepG2	liver
6	chr14:24656600-24657800	Flanking Active TSS	Dnd41	blood
7	chr14:24656600-24658600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:24656800-24657600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr14:24656800-24657600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:24656800-24657600	Flanking Active TSS	Pancreas	Pancrea
11	chr14:24656800-24657600	Flanking Active TSS	NH-A	brain
12	chr14:24656800-24657600	Flanking Active TSS	Osteobl	bone
13	chr14:24656800-24657800	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr14:24656800-24658000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
15	chr14:24656800-24658400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:24656800-24658400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr14:24657000-24657600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:24657000-24657600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:24657000-24657600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr14:24657000-24657600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr14:24657000-24657600	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr14:24657000-24657600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr14:24657000-24657600	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr14:24657000-24657600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr14:24657000-24657600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr14:24657000-24657600	Enhancers	Stomach Mucosa	stomach
27	chr14:24657000-24657800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:24657000-24657800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr14:24657000-24657800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:24657000-24657800	Flanking Active TSS	Liver	Liver
31	chr14:24657000-24657800	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr14:24657000-24657800	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr14:24657000-24657800	Flanking Active TSS	Right Ventricle	heart
34	chr14:24657000-24657800	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr14:24657000-24658000	Flanking Active TSS	Colonic Mucosa	Colon
36	chr14:24657000-24658400	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr14:24657000-24658400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:24657000-24658400	Active TSS	Fetal Kidney	kidney
39	chr14:24657000-24658400	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr14:24657000-24658400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr14:24657000-24658800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr14:24657200-24657600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr14:24657200-24657600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:24657200-24657600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr14:24657200-24657600	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr14:24657200-24657600	Flanking Active TSS	NHEK	skin
47	chr14:24657200-24657800	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr14:24657200-24657800	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr14:24657200-24657800	Flanking Active TSS	Fetal Stomach	stomach
50	chr14:24657200-24657800	Flanking Active TSS	Left Ventricle	heart

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