Variant report

Variant	rs8177544
Chromosome Location	chr14:77788788-77788789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:77788740-77788890	GM12864	blood:	n/a	n/a
2	POLR2A	chr14:77786461-77788955	GM12891	blood:	n/a	n/a
3	POLR2A	chr14:77786184-77789280	H1-hESC	embryonic stem cell:	n/a	n/a
4	SRF	chr14:77788650-77789377	MCF-7	breast:	n/a	chr14:77788965-77788976 chr14:77788962-77788976 chr14:77788961-77788975 chr14:77788966-77788975 chr14:77788964-77788977 chr14:77788964-77788977 chr14:77788966-77788980 chr14:77788962-77788980
5	POLR2A	chr14:77786459-77789015	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr14:77788644-77789064	MCF-7	breast:	n/a	n/a
7	CTCF	chr14:77788780-77788930	WERI-Rb-1	eye:	n/a	n/a
8	CTCF	chr14:77788780-77788930	HMEC	breast:	n/a	n/a
9	POLR2A	chr14:77788677-77789408	HepG2	liver:	n/a	n/a
10	MXI1	chr14:77786287-77789094	SK-N-SH	brain:	n/a	chr14:77786739-77786754
11	CTCF	chr14:77788740-77788890	HL-60	blood:	n/a	n/a
12	CTCF	chr14:77788700-77788850	HPF	lung:	n/a	n/a
13	MTA3	chr14:77788083-77788801	GM12878	blood:	n/a	n/a
14	MXI1	chr14:77786162-77788939	IMR90	lung:	n/a	chr14:77786739-77786754
15	POLR2A	chr14:77786566-77788789	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr14:77786495-77789217	PBDE	blood:	n/a	n/a
17	POLR2A	chr14:77788277-77788894	K562	blood:	n/a	n/a
18	CTCF	chr14:77788740-77788890	HEEpiC	esophagus:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:77639702..77642054-chr14:77787547..77789346,2	MCF-7	breast:
2	chr14:77787369..77789536-chr14:77923983..77928279,4	K562	blood:
3	chr14:77787549..77790264-chr14:77928506..77931057,2	MCF-7	breast:
4	chr14:77785598..77789538-chr14:77924091..77927637,5	MCF-7	breast:
5	chr14:77605681..77608147-chr14:77785721..77788952,4	MCF-7	breast:
6	chr14:77786606..77788826-chr14:78082183..78084255,2	K562	blood:
7	chr14:77646577..77649681-chr14:77786771..77790034,4	MCF-7	breast:
8	chr14:77786062..77789367-chr14:77922502..77925939,5	K562	blood:
9	chr14:77355116..77357952-chr14:77787367..77789205,2	MCF-7	breast:
10	chr14:77559718..77567556-chr14:77781210..77790475,16	MCF-7	breast:
11	chr14:77785522..77790160-chr14:77881086..77890187,11	MCF-7	breast:
12	chr14:77604510..77610221-chr14:77785583..77789070,6	MCF-7	breast:
13	chr14:77785710..77794377-chr14:77836948..77846491,26	MCF-7	breast:
14	chr14:77786728..77789222-chr14:77922439..77925921,5	MCF-7	breast:
15	chr14:77788050..77790932-chr19:12894264..12897215,2	MCF-7	breast:
16	chr14:77786039..77790135-chr14:77842733..77846742,6	MCF-7	breast:

No data

Variant related genes	Relation type
POMT2	TF binding region
GSTZ1	TF binding region
ENSG00000223174	Chromatin interaction
ENSG00000268156	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000267212	Chromatin interaction
ENSG00000100580	Chromatin interaction
ENSG00000165548	Chromatin interaction
ENSG00000258552	Chromatin interaction
ENSG00000177108	Chromatin interaction
ENSG00000259164	Chromatin interaction
ENSG00000269883	Chromatin interaction
ENSG00000198894	Chromatin interaction
ENSG00000165555	Chromatin interaction
ENSG00000100583	Chromatin interaction
ENSG00000100596	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17105685	1.00[CHD][hapmap]
rs17105811	1.00[MEX][hapmap]
rs17751412	1.00[MEX][hapmap]
rs72681234	1.00[EUR][1000 genomes]
rs8004558	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8004561	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8177550	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs888410	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:125 , 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	chr14:77786400-77789000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:77786600-77788800	Active TSS	H1 Cell Line	embryonic stem cell
4	chr14:77786600-77788800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr14:77786600-77788800	Active TSS	HSMM	muscle
6	chr14:77786600-77788800	Active TSS	HSMMtube	muscle
7	chr14:77786600-77789000	Active TSS	NHLF	lung
8	chr14:77788000-77788800	Weak transcription	Gastric	stomach
9	chr14:77788200-77788800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr14:77788200-77788800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr14:77788200-77788800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:77788200-77788800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr14:77788200-77788800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:77788200-77788800	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr14:77788200-77788800	Flanking Active TSS	Fetal Thymus	thymus
16	chr14:77788200-77788800	Flanking Active TSS	HMEC	breast
17	chr14:77788200-77789000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:77788200-77789000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr14:77788200-77789000	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr14:77788200-77789000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:77788200-77789000	Flanking Active TSS	Liver	Liver
22	chr14:77788200-77789000	Flanking Active TSS	Dnd41	blood
23	chr14:77788200-77789000	Flanking Active TSS	NHEK	skin
24	chr14:77788200-77789200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr14:77788200-77789200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:77788200-77789200	Flanking Active TSS	Hela-S3	cervix
27	chr14:77788400-77788800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr14:77788400-77788800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:77788400-77788800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:77788400-77788800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:77788400-77788800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr14:77788400-77788800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr14:77788400-77788800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:77788400-77788800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:77788400-77788800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr14:77788400-77788800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr14:77788400-77788800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr14:77788400-77788800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:77788400-77788800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:77788400-77788800	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr14:77788400-77788800	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr14:77788400-77788800	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr14:77788400-77788800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr14:77788400-77788800	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr14:77788400-77788800	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr14:77788400-77788800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr14:77788400-77788800	Flanking Active TSS	Fetal Brain Male	brain
48	chr14:77788400-77788800	Flanking Active TSS	Fetal Brain Female	brain
49	chr14:77788400-77788800	Flanking Active TSS	Fetal Lung	lung
50	chr14:77788400-77788800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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