Variant report

Variant	rs556953332
Chromosome Location	chr1:160083289-160083290
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:160083260-160083410	Hela-S3	cervix:	n/a	chr1:160083398-160083407
2	CTCF	chr1:160083160-160083310	HEEpiC	esophagus:	n/a	n/a
3	CTCF	chr1:160083260-160083410	HepG2	liver:	n/a	chr1:160083398-160083407
4	CTCF	chr1:160083253-160083466	H1-hESC	embryonic stem cell:	n/a	chr1:160083398-160083407
5	CTCF	chr1:160083280-160083430	GM12866	blood:	n/a	chr1:160083398-160083407
6	CTCF	chr1:160083260-160083410	GM12872	blood:	n/a	chr1:160083398-160083407
7	CTCF	chr1:160083220-160083370	HAc	cerebellar:	n/a	n/a
8	CTCF	chr1:160083280-160083430	GM12874	blood:	n/a	chr1:160083398-160083407
9	CTCF	chr1:160083260-160083410	AoAF	blood vessel:	n/a	chr1:160083398-160083407

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:160080964..160083966-chr10:103123126..103126132,6	K562	blood:
2	chr1:160080965..160083984-chr17:41398967..41401934,3	MCF-7	breast:
3	chr1:160082467..160083988-chrX:96138932..96140452,2	MCF-7	breast:
4	chr1:160080964..160083987-chr11:62607622..62610720,16	K562	blood:
5	chr1:160082468..160083988-chr17:41464200..41466223,4	MCF-7	breast:
6	chr1:160080985..160083988-chr17:41380430..41383693,4	K562	blood:
7	chr1:160080586..160083294-chr1:160147064..160150019,2	MCF-7	breast:
8	chr1:160080964..160083986-chr17:41464178..41467848,23	K562	blood:
9	chr1:160080964..160083988-chr3:73158451..73161571,21	K562	blood:
10	chr1:160080964..160083988-chr3:73158464..73162068,5	MCF-7	breast:
11	chr1:160082468..160083985-chr13:90583692..90585215,3	K562	blood:
12	chr1:160080964..160083988-chr3:73158461..73161621,18	K562	blood:
13	chr1:160080964..160083988-chr17:41463592..41467638,9	MCF-7	breast:
14	chr1:160080964..160083966-chr17:41399649..41402375,7	K562	blood:
15	chr1:160082464..160083987-chr3:53844168..53845688,2	K562	blood:
16	chr1:160082464..160083984-chr11:61276233..61277753,2	K562	blood:
17	chr1:160080964..160083987-chr17:41398849..41402375,12	K562	blood:
18	chr1:160082463..160083986-chr4:8218786..8220306,2	K562	blood:
19	chr1:160080964..160083988-chr17:41464178..41467879,21	K562	blood:
20	chr1:160080967..160083988-chr11:62607618..62610648,12	K562	blood:
21	chr1:160065564..160068271-chr1:160082257..160084240,2	MCF-7	breast:
22	chr1:160080964..160083963-chr17:41391284..41393804,3	K562	blood:
23	chr1:160082466..160083968-chr13:90583692..90585197,2	K562	blood:

No data

Variant related genes	Relation type
ATP1A2	TF binding region
ENSG00000133316	Chromatin interaction
ENSG00000222414	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000236383	Chromatin interaction
ENSG00000132681	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000204950	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3327316	chr1:159985477-160151281	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv520189	chr1:160011512-160095625	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv1806746	chr1:160029416-160105927	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv1824420	chr1:160029416-160105927	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv1843994	chr1:160029416-160105927	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv534066	chr1:160029416-160105986	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
7	esv1794281	chr1:160029416-160111565	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
8	esv1820784	chr1:160029416-160159395	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv534165	chr1:160029416-160187302	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv872490	chr1:160083012-160121488	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking 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 miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160074800-160083400	Weak transcription	HSMMtube	muscle
2	chr1:160074800-160086400	Weak transcription	Spleen	Spleen
3	chr1:160075000-160083400	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:160078400-160085400	Enhancers	Fetal Muscle Leg	muscle
5	chr1:160079400-160083800	Weak transcription	Brain Germinal Matrix	brain
6	chr1:160079400-160084000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:160079600-160084400	Weak transcription	Fetal Lung	lung
8	chr1:160080800-160083600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:160080800-160085400	Enhancers	Fetal Muscle Trunk	muscle
10	chr1:160081800-160084400	Enhancers	Brain Cingulate Gyrus	brain
11	chr1:160081800-160084400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:160081800-160084800	Enhancers	Brain Hippocampus Middle	brain
13	chr1:160081800-160085200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:160081800-160085200	Enhancers	Psoas Muscle	Psoas
15	chr1:160081800-160085400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:160081800-160085400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:160081800-160085400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:160081800-160085400	Enhancers	Ovary	ovary
19	chr1:160081800-160085600	Enhancers	Right Ventricle	heart
20	chr1:160082000-160085400	Enhancers	Placenta	Placenta
21	chr1:160082200-160084200	Enhancers	HepG2	liver
22	chr1:160082200-160085200	Enhancers	Fetal Heart	heart
23	chr1:160082400-160083800	Enhancers	Brain Substantia Nigra	brain
24	chr1:160082400-160083800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr1:160082400-160085200	Enhancers	Left Ventricle	heart
26	chr1:160082400-160085400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:160082400-160085400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:160082400-160085400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:160082400-160085400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr1:160082600-160083400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:160082600-160083600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:160082600-160084000	Enhancers	Brain Anterior Caudate	brain
33	chr1:160082600-160084400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:160082600-160084600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:160082600-160085200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:160082600-160085200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:160082600-160085200	Enhancers	Stomach Smooth Muscle	stomach
38	chr1:160082600-160085400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr1:160082600-160085400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:160082600-160085400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:160082600-160085400	Enhancers	Adipose Nuclei	Adipose
42	chr1:160082600-160085600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:160082600-160085600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:160082600-160085600	Weak transcription	Esophagus	oesophagus
45	chr1:160082600-160085600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:160083000-160083400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:160083000-160083800	Bivalent Enhancer	Fetal Stomach	stomach
48	chr1:160083000-160085200	Weak transcription	Brain Angular Gyrus	brain
49	chr1:160083000-160085400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr1:160083200-160083400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--

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