Variant report

Variant	rs3759680
Chromosome Location	chr14:65878256-65878257
allele	A/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	ZNF263	chr14:65878053-65879887	HEK293-T-REx	kidney:	n/a	n/a
2	TAF1	chr14:65878235-65878806	GM12878	blood:	n/a	n/a
3	JUND	chr14:65878219-65879554	MCF-7	breast:	n/a	chr14:65878509-65878518 chr14:65878550-65878559
4	TBP	chr14:65878226-65879498	Hela-S3	cervix:	n/a	n/a
5	SIN3AK20	chr14:65878148-65880348	MCF-7	breast:	n/a	n/a
6	POLR2A	chr14:65877779-65880666	GM12892	blood:	n/a	n/a
7	POLR2A	chr14:65878080-65880573	Raji	blood:	n/a	n/a
8	POLR2A	chr14:65877745-65880761	GM12892	blood:	n/a	n/a
9	POLR2A	chr14:65877470-65881012	GM12891	blood:	n/a	n/a
10	POLR2A	chr14:65877799-65880930	GM12878	blood:	n/a	n/a
11	RELA	chr14:65878067-65879970	GM10847	blood:	n/a	n/a
12	RAD21	chr14:65878068-65880004	MCF-7	breast:	n/a	chr14:65879378-65879390 chr14:65879191-65879210
13	POLR2A	chr14:65877789-65880853	GM19099	blood:	n/a	n/a
14	RAD21	chr14:65878221-65879550	H1-hESC	embryonic stem cell:	n/a	chr14:65879378-65879390 chr14:65879191-65879210
15	ELF1	chr14:65878141-65880025	MCF-7	breast:	n/a	chr14:65879763-65879775 chr14:65878779-65878788 chr14:65879765-65879774 chr14:65879385-65879397
16	POLR2A	chr14:65878234-65879856	HEK293	kidney:	n/a	n/a
17	GABPA	chr14:65878086-65879510	MCF-7	breast:	n/a	chr14:65879340-65879349 chr14:65879391-65879405 chr14:65878680-65878689 chr14:65879394-65879408 chr14:65879394-65879405 chr14:65879396-65879405 chr14:65879482-65879491 chr14:65879394-65879403
18	PBX3	chr14:65878251-65878914	SK-N-SH	brain:	n/a	chr14:65878510-65878519 chr14:65878514-65878534 chr14:65878551-65878560
19	POLR2A	chr14:65878150-65879981	IMR90	lung:	n/a	n/a
20	CHD1	chr14:65878234-65878415	GM12878	blood:	n/a	n/a
21	PML	chr14:65878218-65880124	MCF-7	breast:	n/a	n/a
22	ELF1	chr14:65878223-65879983	GM12878	blood:	n/a	chr14:65879763-65879775 chr14:65878779-65878788 chr14:65879765-65879774 chr14:65879385-65879397
23	NR2F2	chr14:65878185-65880635	MCF-7	breast:	n/a	n/a
24	SRF	chr14:65878108-65879898	MCF-7	breast:	n/a	n/a
25	HDAC2	chr14:65878147-65880546	MCF-7	breast:	n/a	chr14:65879396-65879405 chr14:65879451-65879460 chr14:65879515-65879524
26	POLR2A	chr14:65878155-65880730	GM12892	blood:	n/a	n/a
27	MTA3	chr14:65877769-65881062	GM12878	blood:	n/a	n/a
28	POLR2A	chr14:65878224-65879886	MCF10A-Er-Src	breast:	n/a	n/a
29	MAX	chr14:65878246-65880758	MCF-7	breast:	n/a	chr14:65879334-65879344
30	CREB1	chr14:65878213-65879959	HepG2	liver:	n/a	n/a
31	HEY1	chr14:65878249-65878848	HepG2	liver:	n/a	n/a
32	SP1	chr14:65878214-65879611	A549	lung:	n/a	chr14:65879341-65879350 chr14:65879339-65879351 chr14:65878541-65878562 chr14:65879339-65879351 chr14:65879341-65879350 chr14:65878500-65878521 chr14:65879336-65879350 chr14:65879340-65879349
33	POLR2A	chr14:65877888-65880772	GM12878	blood:	n/a	n/a
34	TAF1	chr14:65878240-65879602	A549	lung:	n/a	n/a
35	TFAP2C	chr14:65878160-65879531	Hela-S3	cervix:	n/a	chr14:65879276-65879291 chr14:65878433-65878448
36	POLR2A	chr14:65878184-65879936	HepG2	liver:	n/a	n/a
37	GATA3	chr14:65878193-65880496	MCF-7	breast:	n/a	chr14:65880402-65880413
38	POLR2A	chr14:65878053-65880082	U87	brain:	n/a	n/a
39	TAF1	chr14:65878255-65879901	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr14:65878243-65879901	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr14:65878222-65880684	MCF-7	breast:	n/a	n/a
42	POLR2A	chr14:65878174-65879956	U87	brain:	n/a	n/a
43	POLR2A	chr14:65878249-65879965	NB4	blood:	n/a	n/a
44	POLR2A	chr14:65878122-65880063	HUVEC	blood vessel:	n/a	n/a
45	SIN3AK20	chr14:65877979-65880826	MCF-7	breast:	n/a	n/a
46	SP1	chr14:65878247-65878851	H1-hESC	embryonic stem cell:	n/a	chr14:65878541-65878562 chr14:65878500-65878521
47	RCOR1	chr14:65878214-65880884	IMR90	lung:	n/a	n/a
48	CTCF	chr14:65878067-65880870	SK-N-SH	brain:	n/a	chr14:65879920-65879933
49	PBX3	chr14:65878200-65879568	SK-N-SH	brain:	n/a	chr14:65878510-65878519 chr14:65878514-65878534 chr14:65878551-65878560
50	MYC	chr14:65878243-65879831	A549	lung:	n/a	chr14:65879334-65879344

No.	Distal block	Cell Line	Cell type
1	chr14:65700230..65702841-chr14:65877569..65880268,3	MCF-7	breast:
2	chr14:65700105..65703075-chr14:65877781..65880441,2	MCF-7	breast:
3	chr14:65685385..65700060-chr14:65874568..65884730,76	MCF-7	breast:
4	chr14:65876592..65878564-chr6:54710365..54711981,2	MCF-7	breast:
5	chr14:65799114..65802639-chr14:65877920..65880470,4	MCF-7	breast:
6	chr14:65877301..65879579-chr20:36761978..36764479,2	MCF-7	breast:
7	chr14:65877799..65879344-chr20:52823519..52825312,2	MCF-7	breast:
8	chr14:65682951..65699539-chr14:65874873..65882779,51	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAX-11	chr14:65877311-65879335	NONHSAT037389

Variant related genes	Relation type
FUT8	TF binding region
ENSG00000168143	Chromatin interaction
ENSG00000198959	Chromatin interaction
ENSG00000266740	Chromatin interaction
ENSG00000255002	Chromatin interaction
ENSG00000101132	Chromatin interaction
ENSG00000258878	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10144979	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10150412	0.89[ASN][1000 genomes]
rs10483776	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1113962	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11158603	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs11844682	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12433597	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs17246091	0.82[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs17753508	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap]
rs1889731	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1953418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1959144	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2183277	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2184601	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2210805	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2411356	0.85[CHB][hapmap]
rs2411820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2898814	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2898820	0.93[ASN][1000 genomes]
rs3825639	1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[JPT][hapmap]
rs4902399	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6573612	0.89[ASN][1000 genomes]
rs6573614	0.84[ASN][1000 genomes]
rs6573616	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs7140341	1.00[CHB][hapmap]
rs7141536	0.83[JPT][hapmap]
rs7145759	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7147002	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs7150094	0.89[ASN][1000 genomes]
rs7150648	0.89[ASN][1000 genomes]
rs7157109	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7158153	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs72714423	0.96[ASN][1000 genomes]
rs72714428	0.93[ASN][1000 genomes]
rs72714433	0.93[ASN][1000 genomes]
rs72714436	0.93[ASN][1000 genomes]
rs72714439	0.93[ASN][1000 genomes]
rs72714440	0.93[ASN][1000 genomes]
rs72714442	0.93[ASN][1000 genomes]
rs72714447	0.93[ASN][1000 genomes]
rs72714460	0.85[ASN][1000 genomes]
rs72714461	0.85[ASN][1000 genomes]
rs72714468	0.85[ASN][1000 genomes]
rs72714478	0.85[ASN][1000 genomes]
rs72714482	0.82[ASN][1000 genomes]
rs8003464	0.89[ASN][1000 genomes]
rs8017880	0.89[ASN][1000 genomes]
rs9323460	0.89[ASN][1000 genomes]
rs9323461	1.00[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
6	nsv510639	chr14:65853883-65884315	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65864400-65878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:65877600-65878600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr14:65877600-65882200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:65877600-65885400	Active TSS	GM12878-XiMat	blood
5	chr14:65877800-65878400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr14:65877800-65878400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:65877800-65878400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr14:65877800-65878400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:65877800-65878400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:65877800-65878400	Flanking Active TSS	Dnd41	blood
11	chr14:65877800-65878400	Flanking Active TSS	HUVEC	blood vessel
12	chr14:65877800-65879000	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr14:65877800-65880400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:65877800-65880600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:65877800-65880600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:65877800-65881000	Active TSS	Fetal Intestine Small	intestine
17	chr14:65877800-65881600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr14:65877800-65882600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:65878000-65878400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr14:65878000-65878400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr14:65878000-65878400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr14:65878000-65878400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:65878000-65878400	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr14:65878000-65878400	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr14:65878000-65878400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr14:65878000-65878400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr14:65878000-65878400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:65878000-65878400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr14:65878000-65878400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:65878000-65878400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr14:65878000-65878400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr14:65878000-65878400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr14:65878000-65878400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:65878000-65878400	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr14:65878000-65878400	Flanking Active TSS	Liver	Liver
36	chr14:65878000-65878400	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr14:65878000-65878400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr14:65878000-65878400	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr14:65878000-65878400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr14:65878000-65878400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr14:65878000-65878400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr14:65878000-65878400	Flanking Active TSS	HMEC	breast
43	chr14:65878000-65878400	Flanking Active TSS	NH-A	brain
44	chr14:65878000-65878400	Flanking Active TSS	NHEK	skin
45	chr14:65878000-65878400	Flanking Active TSS	Osteobl	bone
46	chr14:65878000-65879000	Active TSS	Brain Germinal Matrix	brain
47	chr14:65878000-65879200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:65878000-65879800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:65878000-65879800	Active TSS	Colonic Mucosa	Colon
50	chr14:65878000-65880200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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