Variant report

Variant	rs557322444
Chromosome Location	chr1:169074432-169074433
allele	C/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	MAFK	chr1:169074391-169074660	K562	blood:	n/a	n/a
2	CTBP2	chr1:169074352-169076271	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAZ	chr1:169074351-169076481	K562	blood:	n/a	chr1:169075667-169075677 chr1:169076272-169076282 chr1:169075347-169075357
4	RCOR1	chr1:169074379-169074630	K562	blood:	n/a	n/a
5	MAFF	chr1:169074406-169074681	K562	blood:	n/a	n/a
6	MAFK	chr1:169074425-169074698	HepG2	liver:	n/a	n/a
7	MYC	chr1:169074306-169076825	NB4	blood:	n/a	chr1:169075667-169075677 chr1:169076272-169076282 chr1:169075347-169075357
8	MAX	chr1:169074418-169076833	NB4	blood:	n/a	chr1:169075667-169075677 chr1:169076272-169076282 chr1:169075347-169075357
9	POLR2A	chr1:169074283-169076982	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr1:169074403-169080488	SK-N-SH	brain:	n/a	chr1:169077102-169077114 chr1:169078627-169078641 chr1:169076719-169076731 chr1:169077792-169077801 chr1:169079920-169079939
11	TCF12	chr1:169074352-169077666	A549	lung:	n/a	chr1:169075044-169075054 chr1:169075804-169075811 chr1:169075253-169075260
12	WRNIP1	chr1:169074387-169074705	GM12878	blood:	n/a	n/a
13	BACH1	chr1:169074410-169074663	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAFK	chr1:169074402-169074691	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:169074261-169080200	HepG2	liver:	n/a	n/a
16	GATA2	chr1:169074282-169076748	SH-SY5Y	brain:	n/a	chr1:169074391-169074401 chr1:169074711-169074722 chr1:169074469-169074478

No.	Distal block	Cell Line	Cell type
1	chr1:169055830..169060702-chr1:169073415..169077056,5	MCF-7	breast:
2	chr1:169073561..169077593-chr1:169336088..169341683,7	K562	blood:
3	chr1:169071736..169074539-chr1:169075134..169076733,2	K562	blood:
4	chr1:169073666..169076222-chr8:146016630..146018644,2	MCF-7	breast:
5	chr1:169073988..169075864-chr6:26199270..26200811,2	MCF-7	breast:
6	chr1:169073990..169076920-chr1:169277266..169279793,2	K562	blood:
7	chr1:169053133..169065213-chr1:169070028..169077898,15	MCF-7	breast:

Variant related genes	Relation type
ATP1B1	TF binding region
ENSG00000117475	Chromatin interaction
ENSG00000203601	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000143153	Chromatin interaction
ENSG00000161016	Chromatin interaction
ENSG00000143156	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	esv3323390	chr1:169074353-169076901	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169068000-169074600	Enhancers	Fetal Heart	heart
2	chr1:169068800-169074600	Enhancers	Fetal Intestine Large	intestine
3	chr1:169068800-169074600	Enhancers	Fetal Intestine Small	intestine
4	chr1:169070600-169074600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:169071600-169074600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:169072200-169074800	Weak transcription	Right Atrium	heart
7	chr1:169072400-169074600	Weak transcription	Fetal Brain Female	brain
8	chr1:169072400-169075000	Weak transcription	Aorta	Aorta
9	chr1:169072600-169074600	Enhancers	Pancreas	Pancrea
10	chr1:169072600-169074800	Enhancers	Brain Substantia Nigra	brain
11	chr1:169072800-169074600	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:169072800-169074800	Enhancers	Esophagus	oesophagus
13	chr1:169073000-169074600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:169073000-169074600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr1:169073000-169074600	Weak transcription	Left Ventricle	heart
16	chr1:169073200-169074600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:169073200-169074800	Weak transcription	Ovary	ovary
18	chr1:169073200-169074800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr1:169073200-169075000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr1:169073400-169074800	Enhancers	Small Intestine	intestine
21	chr1:169073800-169074600	Enhancers	Gastric	stomach
22	chr1:169074000-169074600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:169074000-169074600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:169074000-169074600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:169074000-169075000	Enhancers	Fetal Brain Male	brain
26	chr1:169074000-169078800	Active TSS	Rectal Smooth Muscle	rectum
27	chr1:169074200-169074600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
28	chr1:169074200-169074600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:169074200-169074600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr1:169074200-169074600	Enhancers	Primary hematopoietic stem cells	blood
31	chr1:169074200-169074600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr1:169074200-169074600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
33	chr1:169074200-169074600	Enhancers	Right Ventricle	heart
34	chr1:169074200-169074600	Enhancers	Stomach Smooth Muscle	stomach
35	chr1:169074200-169074600	Bivalent Enhancer	Dnd41	blood
36	chr1:169074200-169074800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:169074200-169074800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr1:169074200-169074800	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr1:169074200-169074800	Enhancers	Lung	lung
40	chr1:169074200-169074800	Enhancers	Spleen	Spleen
41	chr1:169074200-169075000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr1:169074200-169075000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr1:169074400-169074600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
44	chr1:169074400-169074600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:169074400-169074600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:169074400-169074600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chr1:169074400-169074600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
48	chr1:169074400-169074600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
49	chr1:169074400-169074600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
50	chr1:169074400-169074600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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