Variant report

Variant	rs8177539
Chromosome Location	chr14:77787759-77787760
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	ESR1	chr14:77787065-77787872	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr14:77786625-77788016	K562	blood:	n/a	n/a
3	TEAD4	chr14:77787186-77787807	K562	blood:	n/a	n/a
4	POLR2A	chr14:77787221-77787948	GM12878	blood:	n/a	n/a
5	MAX	chr14:77786491-77788014	SK-N-SH	brain:	n/a	chr14:77786739-77786748 chr14:77786689-77786699
6	POLR2A	chr14:77786605-77788038	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr14:77786511-77788562	Hela-S3	cervix:	n/a	n/a
8	HCFC1	chr14:77786637-77787937	K562	blood:	n/a	n/a
9	RCOR1	chr14:77786527-77787926	Hela-S3	cervix:	n/a	n/a
10	SRF	chr14:77787411-77787793	GM12878	blood:	n/a	n/a
11	ETS1	chr14:77786658-77787911	K562	blood:	n/a	chr14:77787300-77787313 chr14:77787299-77787312 chr14:77787605-77787616
12	POLR2A	chr14:77786559-77788023	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr14:77786499-77788042	MCF-7	breast:	n/a	n/a
14	POLR2A	chr14:77786623-77788254	GM18526	blood:	n/a	n/a
15	MAX	chr14:77786602-77787871	GM12878	blood:	n/a	chr14:77786739-77786748 chr14:77786689-77786699
16	GTF2F1	chr14:77787717-77787909	H1-hESC	embryonic stem cell:	n/a	n/a
17	EP300	chr14:77787159-77787815	K562	blood:	n/a	n/a
18	POLR2A	chr14:77786461-77788955	GM12891	blood:	n/a	n/a
19	NRF1	chr14:77787530-77787877	Hela-S3	cervix:	n/a	chr14:77787664-77787675 chr14:77787662-77787676 chr14:77787665-77787679 chr14:77787665-77787676 chr14:77787653-77787664 chr14:77787581-77787590
20	MAX	chr14:77786537-77788021	ECC-1	luminal epithelium:	n/a	chr14:77786739-77786748 chr14:77786689-77786699
21	ELF1	chr14:77787044-77787838	HepG2	liver:	n/a	chr14:77787147-77787159
22	POLR2A	chr14:77787176-77787975	GM12891	blood:	n/a	n/a
23	SP1	chr14:77786419-77788004	A549	lung:	n/a	chr14:77787580-77787592 chr14:77787816-77787828 chr14:77787481-77787495 chr14:77786670-77786681 chr14:77786686-77786697 chr14:77787484-77787495 chr14:77787581-77787591 chr14:77787581-77787591 chr14:77786687-77786701 chr14:77786686-77786698 chr14:77787328-77787338 chr14:77787582-77787591 chr14:77787580-77787592 chr14:77787540-77787553 chr14:77787581-77787590 chr14:77787577-77787591 chr14:77786688-77786697 chr14:77786686-77786698 chr14:77786708-77786729 chr14:77787582-77787591
24	SIN3AK20	chr14:77786552-77787920	HepG2	liver:	n/a	n/a
25	TAF1	chr14:77787285-77788012	H1-neurons	neurons:	n/a	n/a
26	ETS1	chr14:77787057-77787870	GM12878	blood:	n/a	chr14:77787300-77787313 chr14:77787299-77787312 chr14:77787605-77787616
27	SP4	chr14:77786962-77787768	H1-hESC	embryonic stem cell:	n/a	chr14:77787484-77787495 chr14:77787576-77787592 chr14:77787578-77787594
28	E2F4	chr14:77786569-77787820	K562	blood:	n/a	chr14:77786709-77786718 chr14:77787666-77787675 chr14:77787334-77787345 chr14:77787075-77787085 chr14:77787581-77787590 chr14:77787333-77787345
29	POLR2A	chr14:77786595-77787995	U87	brain:	n/a	n/a
30	IRF1	chr14:77786525-77787932	K562	blood:	n/a	chr14:77786684-77786698 chr14:77787580-77787594 chr14:77787327-77787341
31	ELF1	chr14:77786547-77787895	GM12878	blood:	n/a	chr14:77787147-77787159
32	GABPA	chr14:77787137-77787818	HepG2	liver:	n/a	chr14:77787662-77787676 chr14:77787665-77787679 chr14:77787665-77787676 chr14:77787581-77787590
33	MYBL2	chr14:77787208-77787987	HepG2	liver:	n/a	n/a
34	ZBTB7A	chr14:77786444-77788000	ECC-1	luminal epithelium:	n/a	n/a
35	JUND	chr14:77787451-77787797	HepG2	liver:	n/a	chr14:77787580-77787589
36	TEAD4	chr14:77787329-77787830	HepG2	liver:	n/a	n/a
37	CTCF	chr14:77787722-77787817	GM12892	blood:	n/a	n/a
38	GABPA	chr14:77787010-77787889	K562	blood:	n/a	chr14:77787662-77787676 chr14:77787665-77787679 chr14:77787665-77787676 chr14:77787581-77787590
39	MAX	chr14:77786681-77787814	A549	lung:	n/a	chr14:77786739-77786748 chr14:77786689-77786699
40	PAX5	chr14:77787307-77787818	GM12891	blood:	n/a	n/a
41	REST	chr14:77787610-77787964	H1-hESC	embryonic stem cell:	n/a	chr14:77787762-77787771 chr14:77787794-77787807
42	MYC	chr14:77786285-77787855	A549	lung:	n/a	chr14:77786739-77786748 chr14:77786689-77786699
43	CHD2	chr14:77786698-77787963	K562	blood:	n/a	n/a
44	NRF1	chr14:77787468-77787857	H1-hESC	embryonic stem cell:	n/a	chr14:77787664-77787675 chr14:77787662-77787676 chr14:77787665-77787679 chr14:77787665-77787676 chr14:77787653-77787664 chr14:77787581-77787590
45	POLR2A	chr14:77786593-77787955	K562	blood:	n/a	n/a
46	YY1	chr14:77786594-77787977	HepG2	liver:	n/a	chr14:77787581-77787590 chr14:77787147-77787161
47	POLR2A	chr14:77786461-77788495	K562	blood:	n/a	n/a
48	CHD2	chr14:77787140-77787917	GM12878	blood:	n/a	n/a
49	TAF1	chr14:77786401-77788031	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr14:77786644-77787985	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:77647339..77650955-chr14:77785389..77788358,5	MCF-7	breast:
2	chr14:77639702..77642054-chr14:77787547..77789346,2	MCF-7	breast:
3	chr14:77787369..77789536-chr14:77923983..77928279,4	K562	blood:
4	chr14:77782973..77788435-chr14:78081530..78084931,5	MCF-7	breast:
5	chr14:77787549..77790264-chr14:77928506..77931057,2	MCF-7	breast:
6	chr14:77563716..77565986-chr14:77785813..77787789,2	MCF-7	breast:
7	chr14:77785598..77789538-chr14:77924091..77927637,5	MCF-7	breast:
8	chr14:77751328..77755884-chr14:77785355..77788655,4	MCF-7	breast:
9	chr14:77605681..77608147-chr14:77785721..77788952,4	MCF-7	breast:
10	chr14:77786606..77788826-chr14:78082183..78084255,2	K562	blood:
11	chr14:77646577..77649681-chr14:77786771..77790034,4	MCF-7	breast:
12	chr14:77765577..77770355-chr14:77785292..77788769,6	K562	blood:
13	chr14:77786062..77789367-chr14:77922502..77925939,5	K562	blood:
14	chr14:77355116..77357952-chr14:77787367..77789205,2	MCF-7	breast:
15	chr14:77559718..77567556-chr14:77781210..77790475,16	MCF-7	breast:
16	chr14:77785522..77790160-chr14:77881086..77890187,11	MCF-7	breast:
17	chr14:77604510..77610221-chr14:77785583..77789070,6	MCF-7	breast:
18	chr14:77561613..77565836-chr14:77785735..77788648,4	K562	blood:
19	chr14:77785710..77794377-chr14:77836948..77846491,26	MCF-7	breast:
20	chr14:77786728..77789222-chr14:77922439..77925921,5	MCF-7	breast:
21	chr11:206146..209118-chr14:77786233..77788296,2	MCF-7	breast:
22	chr14:77786039..77790135-chr14:77842733..77846742,6	MCF-7	breast:

Variant related genes	Relation type
POMT2	TF binding region
GSTZ1	TF binding region
ENSG00000151445	Chromatin interaction
ENSG00000177963	Chromatin interaction
ENSG00000258552	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000165548	Chromatin interaction
ENSG00000223174	Chromatin interaction
ENSG00000100596	Chromatin interaction
ENSG00000198894	Chromatin interaction
ENSG00000100580	Chromatin interaction
ENSG00000177951	Chromatin interaction
ENSG00000177108	Chromatin interaction
ENSG00000269883	Chromatin interaction
ENSG00000268156	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000100583	Chromatin interaction
ENSG00000259164	Chromatin interaction
ENSG00000165555	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10145609	1.00[CHB][hapmap]
rs1063270	1.00[CHB][hapmap]
rs1063271	1.00[CHB][hapmap]
rs11159268	1.00[CHB][hapmap]
rs11159269	1.00[CHB][hapmap]
rs12433806	1.00[CHB][hapmap]
rs12435437	1.00[CHB][hapmap]
rs12436626	1.00[CHB][hapmap]
rs12887556	1.00[CHB][hapmap]
rs12891780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17751319	1.00[ASW][hapmap];1.00[CHB][hapmap];0.86[MEX][hapmap]
rs17751370	1.00[CHB][hapmap];1.00[AFR][1000 genomes]
rs17751562	1.00[CHB][hapmap]
rs17824238	1.00[ASW][hapmap];0.85[MEX][hapmap];1.00[AFR][1000 genomes]
rs17824298	1.00[AFR][1000 genomes]
rs17824358	1.00[CHB][hapmap];1.00[AFR][1000 genomes]
rs35472486	1.00[AFR][1000 genomes]
rs3742729	1.00[CHB][hapmap]
rs3742731	1.00[CHB][hapmap]
rs3742732	1.00[CHB][hapmap];0.86[MEX][hapmap]
rs4531669	1.00[CHB][hapmap];1.00[AFR][1000 genomes]
rs56040359	1.00[AFR][1000 genomes]
rs8003820	1.00[CHB][hapmap]
rs8007669	1.00[CHB][hapmap]
rs8011528	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS 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	107 gene(s)	inside rSNPs	diseases
2	nsv902105	chr14:77764884-77801431	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv902106	chr14:77767978-77801431	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr14:77785600-77789000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:77785800-77788400	Active TSS	A549	lung
3	chr14:77786000-77788400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr14:77786200-77788400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:77786200-77788400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr14:77786200-77788400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr14:77786200-77788400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:77786200-77788400	Active TSS	NHDF-Ad	bronchial
9	chr14:77786200-77788600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:77786400-77788000	Active TSS	Gastric	stomach
11	chr14:77786400-77788200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:77786400-77788200	Active TSS	Primary T cells from cord blood	blood
13	chr14:77786400-77788200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr14:77786400-77788200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:77786400-77788200	Active TSS	HMEC	breast
16	chr14:77786400-77788400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:77786400-77788400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:77786400-77788400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:77786400-77788400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:77786400-77788400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr14:77786400-77788400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:77786400-77788400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:77786400-77788400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:77786400-77788400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:77786400-77788400	Active TSS	Brain Hippocampus Middle	brain
26	chr14:77786400-77788400	Active TSS	Fetal Brain Female	brain
27	chr14:77786400-77788400	Active TSS	Fetal Kidney	kidney
28	chr14:77786400-77788400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr14:77786400-77788400	Active TSS	Lung	lung
30	chr14:77786400-77788600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr14:77786400-77788600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr14:77786400-77788600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:77786400-77788600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:77786400-77788600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:77786400-77788600	Active TSS	Aorta	Aorta
36	chr14:77786400-77788600	Active TSS	Esophagus	oesophagus
37	chr14:77786400-77788600	Active TSS	Fetal Muscle Trunk	muscle
38	chr14:77786400-77788600	Active TSS	Left Ventricle	heart
39	chr14:77786400-77788600	Active TSS	Ovary	ovary
40	chr14:77786400-77788600	Active TSS	Psoas Muscle	Psoas
41	chr14:77786400-77788600	Active TSS	Right Atrium	heart
42	chr14:77786400-77789000	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr14:77786600-77788000	Active TSS	Spleen	Spleen
44	chr14:77786600-77788200	Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr14:77786600-77788200	Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr14:77786600-77788200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:77786600-77788200	Active TSS	Muscle Satellite Cultured Cells	--
48	chr14:77786600-77788200	Active TSS	Fetal Muscle Leg	muscle
49	chr14:77786600-77788200	Active TSS	Placenta	Placenta
50	chr14:77786600-77788200	Active TSS	Fetal Stomach	stomach

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