Variant report

Variant	rs555646922
Chromosome Location	chr4:8430216-8430217
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	ZC3H11A	chr4:8430047-8430443	K562	blood:	n/a	n/a
2	POLR2A	chr4:8429861-8430555	PANC-1	pancreas:	n/a	n/a
3	TAF1	chr4:8430027-8430247	GM12892	blood:	n/a	n/a
4	USF1	chr4:8429977-8430379	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr4:8429939-8430379	HepG2	liver:	n/a	n/a
6	MYBL2	chr4:8429997-8430430	HepG2	liver:	n/a	n/a
7	JUND	chr4:8430049-8430724	HepG2	liver:	n/a	chr4:8430238-8430247
8	FOSL2	chr4:8429962-8430448	HepG2	liver:	n/a	chr4:8430238-8430247
9	BHLHE40	chr4:8429729-8430434	K562	blood:	n/a	n/a
10	MXI1	chr4:8430056-8430706	K562	blood:	n/a	chr4:8430265-8430280 chr4:8430263-8430278
11	JUN	chr4:8429844-8430962	K562	blood:	n/a	chr4:8430238-8430247 chr4:8429924-8429933 chr4:8430237-8430250
12	YY1	chr4:8430053-8430376	GM12878	blood:	n/a	chr4:8430279-8430293
13	POLR2A	chr4:8429906-8430353	A549	lung:	n/a	n/a
14	MAX	chr4:8429936-8430565	MCF-7	breast:	n/a	chr4:8430265-8430274
15	CREB1	chr4:8429833-8430652	K562	blood:	n/a	chr4:8430236-8430249
16	TAF1	chr4:8430015-8430329	K562	blood:	n/a	n/a
17	POLR2A	chr4:8429978-8430318	HepG2	liver:	n/a	n/a
18	POLR2A	chr4:8429631-8430442	GM15510	blood:	n/a	n/a
19	MAX	chr4:8429856-8430715	K562	blood:	n/a	chr4:8429876-8429886 chr4:8429876-8429885 chr4:8429872-8429887 chr4:8429877-8429884 chr4:8429926-8429936 chr4:8430265-8430274 chr4:8429875-8429886 chr4:8429878-8429887
20	YY1	chr4:8429860-8430462	GM12892	blood:	n/a	chr4:8429922-8429936 chr4:8430279-8430293 chr4:8429924-8429933 chr4:8429982-8429993
21	USF2	chr4:8430018-8430393	H1-hESC	embryonic stem cell:	n/a	n/a
22	TAF1	chr4:8429944-8430432	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPD	chr4:8429950-8430402	HepG2	liver:	n/a	n/a
24	CTCF	chr4:8430130-8430879	IMR90	lung:	n/a	n/a
25	TBP	chr4:8429970-8430370	H1-hESC	embryonic stem cell:	n/a	n/a
26	SIN3AK20	chr4:8429928-8430629	PANC-1	pancreas:	n/a	n/a
27	ELF1	chr4:8429960-8430458	K562	blood:	n/a	chr4:8430221-8430233
28	POLR2A	chr4:8429836-8430470	H1-neurons	neurons:	n/a	n/a
29	REST	chr4:8429981-8430352	SK-N-SH	brain:	n/a	chr4:8430136-8430149 chr4:8430045-8430058
30	MAX	chr4:8429909-8430567	A549	lung:	n/a	chr4:8429926-8429936 chr4:8430265-8430274
31	POLR2A	chr4:8429428-8430537	GM12878	blood:	n/a	n/a
32	RAD21	chr4:8430085-8430855	IMR90	lung:	n/a	chr4:8430394-8430406 chr4:8430287-8430299
33	ELK1	chr4:8430104-8430375	K562	blood:	n/a	n/a
34	POLR2A	chr4:8429512-8430439	HUVEC	blood vessel:	n/a	n/a
35	EBF1	chr4:8429696-8430504	GM12878	blood:	n/a	chr4:8430206-8430217
36	ELF1	chr4:8429765-8430655	HCT-116	colon:	n/a	chr4:8430221-8430233
37	CHD2	chr4:8430019-8430416	GM12878	blood:	n/a	chr4:8430174-8430184
38	EBF1	chr4:8430046-8430394	GM12878	blood:	n/a	chr4:8430206-8430217
39	PML	chr4:8429721-8430452	GM12878	blood:	n/a	chr4:8430347-8430355
40	SMC3	chr4:8429992-8430741	Hela-S3	cervix:	n/a	chr4:8430078-8430088
41	RCOR1	chr4:8430067-8430373	Hela-S3	cervix:	n/a	n/a
42	MAX	chr4:8429711-8430535	Hela-S3	cervix:	n/a	chr4:8429876-8429886 chr4:8429876-8429885 chr4:8429872-8429887 chr4:8429877-8429884 chr4:8429926-8429936 chr4:8430265-8430274 chr4:8429875-8429886 chr4:8429878-8429887
43	POLR2A	chr4:8429362-8430406	GM12878	blood:	n/a	n/a
44	POLR2A	chr4:8429679-8430475	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr4:8429688-8430393	HUVEC	blood vessel:	n/a	n/a
46	MXI1	chr4:8429292-8431045	IMR90	lung:	n/a	chr4:8430265-8430280 chr4:8430263-8430278
47	ZNF384	chr4:8430088-8430268	GM12878	blood:	n/a	n/a
48	ATF3	chr4:8430002-8430420	HepG2	liver:	n/a	chr4:8430236-8430246 chr4:8430238-8430258 chr4:8430236-8430249 chr4:8430236-8430246 chr4:8430239-8430249 chr4:8430239-8430250 chr4:8430239-8430246 chr4:8430239-8430249 chr4:8430237-8430248 chr4:8430236-8430249 chr4:8430235-8430248 chr4:8430238-8430249 chr4:8430239-8430247 chr4:8430235-8430250
49	CREB1	chr4:8429955-8430550	K562	blood:	n/a	chr4:8430236-8430249
50	CREB1	chr4:8429914-8430506	ECC-1	luminal epithelium:	n/a	chr4:8430236-8430249

No.	Distal block	Cell Line	Cell type
1	chr4:8428067..8433323-chr4:8440948..8445760,8	K562	blood:
2	chr4:8429725..8430462-chrX:12992795..12993539,2	HCT-116	colon:
3	chr4:8414211..8417979-chr4:8429248..8432423,3	MCF-7	breast:
4	chr4:8428810..8430394-chr4:8440724..8444143,3	K562	blood:
5	chr4:8430205..8432229-chr4:8440824..8442595,2	MCF-7	breast:
6	chr4:8429704..8431761-chr4:8439023..8440743,2	MCF-7	breast:
7	chr4:8429518..8431924-chr4:8437588..8440150,2	MCF-7	breast:

Variant related genes	Relation type
ACOX3	TF binding region
ENSG00000205542	Chromatin interaction
ENSG00000087008	Chromatin interaction
ENSG00000155275	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv3439603	chr4:8428877-8431425	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 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	chr4:8428200-8431200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:8429000-8430400	Active TSS	NHDF-Ad	bronchial
3	chr4:8429000-8431000	Active TSS	Hela-S3	cervix
4	chr4:8429200-8430400	Active TSS	Psoas Muscle	Psoas
5	chr4:8429200-8430400	Active TSS	Rectal Smooth Muscle	rectum
6	chr4:8429200-8430600	Active TSS	Aorta	Aorta
7	chr4:8429200-8430800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:8429200-8430800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr4:8429200-8430800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr4:8429200-8430800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr4:8429200-8430800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:8429200-8431000	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr4:8429200-8431000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:8429200-8431000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr4:8429200-8431000	Active TSS	HepG2	liver
16	chr4:8429400-8430400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:8429400-8430400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:8429400-8430400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:8429400-8430400	Active TSS	Fetal Heart	heart
20	chr4:8429400-8430400	Active TSS	Pancreas	Pancrea
21	chr4:8429400-8430600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:8429400-8430600	Active TSS	Colon Smooth Muscle	Colon
23	chr4:8429400-8430600	Active TSS	Fetal Intestine Large	intestine
24	chr4:8429400-8430800	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr4:8429400-8430800	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr4:8429400-8430800	Active TSS	A549	lung
27	chr4:8429400-8431000	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr4:8429400-8431000	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr4:8429400-8431000	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr4:8429600-8430400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:8429600-8430400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:8429600-8430400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:8429600-8430400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:8429600-8430400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:8429600-8430400	Active TSS	Brain Hippocampus Middle	brain
36	chr4:8429600-8430400	Active TSS	Brain Substantia Nigra	brain
37	chr4:8429600-8430400	Active TSS	HSMM	muscle
38	chr4:8429600-8430600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr4:8429600-8430600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:8429600-8430600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:8429600-8430600	Active TSS	Esophagus	oesophagus
42	chr4:8429600-8430600	Active TSS	Left Ventricle	heart
43	chr4:8429600-8430600	Active TSS	Ovary	ovary
44	chr4:8429600-8430800	Active TSS	H1 Cell Line	embryonic stem cell
45	chr4:8429600-8430800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:8429600-8431000	Active TSS	Fetal Intestine Small	intestine
47	chr4:8429800-8430400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:8429800-8430400	Active TSS	Primary B cells from peripheral blood	blood
49	chr4:8429800-8430400	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr4:8429800-8430400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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