Variant report

Variant	rs560256234
Chromosome Location	chr1:78468902-78468903
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	EP300	chr1:78468615-78470834	K562	blood:	n/a	chr1:78469262-78469276
2	MAFK	chr1:78468708-78470928	K562	blood:	n/a	chr1:78469158-78469172 chr1:78469157-78469173 chr1:78469162-78469171 chr1:78469155-78469175 chr1:78469154-78469169 chr1:78469159-78469168 chr1:78469155-78469166
3	EP300	chr1:78468865-78471212	GM12878	blood:	n/a	chr1:78469262-78469276
4	POLR2A	chr1:78468759-78469293	K562	blood:	n/a	n/a
5	MAFK	chr1:78468695-78470840	Hela-S3	cervix:	n/a	chr1:78469158-78469172 chr1:78469157-78469173 chr1:78469162-78469171 chr1:78469155-78469175 chr1:78469154-78469169 chr1:78469159-78469168 chr1:78469155-78469166
6	MXI1	chr1:78468827-78470808	K562	blood:	n/a	n/a
7	ZNF384	chr1:78468385-78469166	K562	blood:	n/a	n/a
8	MAFK	chr1:78468560-78469502	GM12878	blood:	n/a	chr1:78469158-78469172 chr1:78469157-78469173 chr1:78469162-78469171 chr1:78469155-78469175 chr1:78469154-78469169 chr1:78469159-78469168 chr1:78469155-78469166
9	MAFK	chr1:78468865-78469506	IMR90	lung:	n/a	chr1:78469158-78469172 chr1:78469157-78469173 chr1:78469162-78469171 chr1:78469155-78469175 chr1:78469154-78469169 chr1:78469159-78469168 chr1:78469155-78469166
10	BACH1	chr1:78468895-78470495	K562	blood:	n/a	n/a
11	JUN	chr1:78468737-78469397	K562	blood:	n/a	n/a
12	IRF1	chr1:78468673-78471591	K562	blood:	n/a	chr1:78471360-78471371 chr1:78471360-78471373 chr1:78471361-78471375 chr1:78469905-78469919 chr1:78471360-78471373 chr1:78471359-78471372 chr1:78469257-78469271 chr1:78471360-78471373 chr1:78471360-78471374
13	BCLAF1	chr1:78468727-78469257	K562	blood:	n/a	n/a
14	ARID3A	chr1:78467855-78472242	K562	blood:	n/a	n/a
15	MAFF	chr1:78468581-78471128	K562	blood:	n/a	chr1:78469158-78469172 chr1:78469152-78469170

No.	Distal block	Cell Line	Cell type
1	chr1:78222274..78226935-chr1:78467368..78471641,7	K562	blood:
2	chr1:77813619..77816574-chr1:78468319..78470340,2	K562	blood:
3	chr1:45195514..45197967-chr1:78468300..78470449,2	K562	blood:
4	chr1:78468129..78475881-chr1:78555411..78565499,18	K562	blood:
5	chr1:78434019..78436134-chr1:78467540..78469438,2	MCF-7	breast:
6	chr1:78468848..78471469-chr13:91999787..92002475,2	K562	blood:
7	chr1:78354412..78357543-chr1:78468778..78471529,4	K562	blood:
8	chr1:78468665..78470165-chr1:80026349..80029039,2	K562	blood:
9	chr1:78147072..78148946-chr1:78468394..78471551,4	K562	blood:
10	chr1:78223538..78227787-chr1:78468626..78471641,9	K562	blood:
11	chr1:78215243..78217892-chr1:78468395..78470149,2	K562	blood:
12	chr1:78466521..78469448-chr1:78786020..78788848,2	K562	blood:
13	chr1:78391278..78394159-chr1:78467798..78470228,4	K562	blood:
14	chr1:78467305..78472459-chr1:78554681..78560615,12	K562	blood:
15	chr1:78148235..78150616-chr1:78467949..78471468,6	K562	blood:
16	chr1:78468722..78470321-chr1:110881687..110883282,2	K562	blood:
17	chr1:78466099..78472038-chr1:78511575..78517585,8	K562	blood:
18	chr1:78441900..78447727-chr1:78466477..78473207,15	MCF-7	breast:
19	chr1:77684174..77686431-chr1:78467561..78469261,2	K562	blood:
20	chr1:78148970..78151388-chr1:78468544..78472172,4	K562	blood:
21	chr1:78391278..78393665-chr1:78467798..78470228,3	K562	blood:
22	chr1:78468395..78470223-chr1:78565706..78567712,2	K562	blood:
23	chr1:78194511..78196220-chr1:78468665..78470167,2	K562	blood:
24	chr1:78196594..78199188-chr1:78468041..78469700,2	K562	blood:
25	chr1:78441980..78446801-chr1:78467462..78471771,12	MCF-7	breast:
26	chr1:78467898..78469708-chr1:78520081..78522686,2	K562	blood:

Variant related genes	Relation type
DNAJB4	TF binding region
ENSG00000142892	Chromatin interaction
ENSG00000162616	Chromatin interaction
ENSG00000137960	Chromatin interaction
ENSG00000251958	Chromatin interaction
ENSG00000227963	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000213560	Chromatin interaction
ENSG00000162614	Chromatin interaction
ENSG00000036549	Chromatin interaction
ENSG00000215417	Chromatin interaction
ENSG00000077254	Chromatin interaction
ENSG00000233099	Chromatin interaction
ENSG00000235927	Chromatin interaction
ENSG00000202263	Chromatin interaction
ENSG00000162775	Chromatin interaction
ENSG00000162613	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
5	esv1801396	chr1:78468094-78492221	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78446200-78469600	Weak transcription	Thymus	Thymus
2	chr1:78446400-78469800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:78446400-78470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:78446600-78469000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:78446600-78469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:78446600-78469000	Weak transcription	Fetal Kidney	kidney
7	chr1:78446600-78469600	Weak transcription	Aorta	Aorta
8	chr1:78446600-78469800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:78446600-78470200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:78446600-78470400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:78447600-78469800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:78447600-78470200	Weak transcription	Fetal Brain Male	brain
13	chr1:78447800-78469600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:78448800-78488200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:78450200-78469600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:78450200-78469600	Weak transcription	Fetal Intestine Large	intestine
17	chr1:78452800-78470400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:78452800-78478800	Weak transcription	Spleen	Spleen
19	chr1:78453000-78469600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:78454200-78469200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:78454200-78469800	Weak transcription	Left Ventricle	heart
22	chr1:78454200-78469800	Weak transcription	Psoas Muscle	Psoas
23	chr1:78454200-78485600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:78454400-78469800	Weak transcription	Right Ventricle	heart
25	chr1:78455600-78469200	Weak transcription	Primary B cells from cord blood	blood
26	chr1:78456000-78469200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:78456200-78470400	Weak transcription	Esophagus	oesophagus
28	chr1:78457400-78469000	Weak transcription	GM12878-XiMat	blood
29	chr1:78457400-78469800	Weak transcription	Ovary	ovary
30	chr1:78457400-78470400	Weak transcription	Pancreas	Pancrea
31	chr1:78457800-78469000	Weak transcription	HMEC	breast
32	chr1:78459400-78469800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:78459600-78469600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:78460000-78469800	Weak transcription	Fetal Thymus	thymus
35	chr1:78460200-78470200	Weak transcription	Brain Germinal Matrix	brain
36	chr1:78461400-78470000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:78461400-78470800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:78461600-78469400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr1:78461600-78469800	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:78461600-78470000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:78461800-78469000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:78461800-78469800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:78462000-78469000	Weak transcription	NHLF	lung
44	chr1:78462000-78469400	Weak transcription	Primary T cells from cord blood	blood
45	chr1:78462000-78469400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:78462000-78469800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:78462200-78469600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:78462600-78469000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:78462600-78470200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:78463800-78469600	Weak transcription	Fetal Stomach	stomach

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