Variant report

Variant	rs397994448
Chromosome Location	chr4:90032571-90032572
allele	-/C
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	POLR2A	chr4:90032026-90033501	GM18505	blood:	n/a	n/a
2	POLR2A	chr4:90031952-90033122	GM18526	blood:	n/a	n/a
3	MYBL2	chr4:90032177-90032794	HepG2	liver:	n/a	n/a
4	IRF1	chr4:90032086-90032882	K562	blood:	n/a	chr4:90032629-90032643
5	POLR2A	chr4:90032335-90033078	K562	blood:	n/a	n/a
6	YY1	chr4:90032134-90033057	GM12878	blood:	n/a	chr4:90032571-90032582 chr4:90032633-90032642 chr4:90032631-90032645
7	MAX	chr4:90031662-90033107	K562	blood:	n/a	chr4:90032609-90032618 chr4:90032634-90032644
8	GABPA	chr4:90032519-90032962	A549	lung:	n/a	chr4:90032633-90032642 chr4:90032808-90032817
9	TRIM28	chr4:90032109-90032684	K562	blood:	n/a	n/a
10	CTCF	chr4:90032175-90032629	MCF-7	breast:	n/a	n/a
11	SIN3AK20	chr4:90032106-90032591	PFSK-1	brain:	n/a	n/a
12	SIN3AK20	chr4:90031811-90033148	MCF-7	breast:	n/a	n/a
13	RAD21	chr4:90032249-90032632	GM12878	blood:	n/a	n/a
14	POLR2A	chr4:90032083-90033086	K562	blood:	n/a	n/a
15	CTCF	chr4:90032095-90032642	HepG2	liver:	n/a	n/a
16	ELF1	chr4:90032516-90032915	HepG2	liver:	n/a	n/a
17	BHLHE40	chr4:90032021-90033369	GM12878	blood:	n/a	chr4:90032093-90032109
18	SETDB1	chr4:90031866-90033084	K562	blood:	n/a	n/a
19	TAF1	chr4:90032494-90033057	K562	blood:	n/a	n/a
20	CTCF	chr4:90032109-90032626	GM19239	blood:	n/a	n/a
21	POLR2A	chr4:90032362-90033077	K562	blood:	n/a	n/a
22	RCOR1	chr4:90032383-90032951	Hela-S3	cervix:	n/a	n/a
23	FOXA2	chr4:90032023-90032732	A549	lung:	n/a	n/a
24	BHLHE40	chr4:90032103-90032992	HepG2	liver:	n/a	n/a
25	ZNF143	chr4:90032262-90033141	H1-hESC	embryonic stem cell:	n/a	n/a
26	MXI1	chr4:90031599-90033231	GM12878	blood:	n/a	chr4:90031789-90031804
27	MAX	chr4:90031818-90033188	HepG2	liver:	n/a	chr4:90032609-90032618 chr4:90032634-90032644
28	POLR2A	chr4:90032569-90032978	GM12892	blood:	n/a	n/a
29	TCF12	chr4:90032096-90032573	GM12878	blood:	n/a	n/a
30	EP300	chr4:90032131-90033018	GM12878	blood:	n/a	chr4:90032597-90032613
31	SIN3AK20	chr4:90032167-90032986	SK-N-SH	brain:	n/a	n/a
32	GABPA	chr4:90032300-90033054	K562	blood:	n/a	chr4:90032633-90032642 chr4:90032808-90032817
33	SP1	chr4:90032116-90032841	GM12878	blood:	n/a	chr4:90032597-90032606 chr4:90032632-90032641 chr4:90032633-90032642 chr4:90032632-90032646 chr4:90032632-90032642 chr4:90032567-90032581 chr4:90032568-90032577 chr4:90032632-90032641 chr4:90032687-90032701 chr4:90032632-90032642 chr4:90032595-90032607 chr4:90032631-90032643 chr4:90032567-90032576 chr4:90032566-90032578 chr4:90032631-90032643 chr4:90032566-90032578
34	POLR2A	chr4:90031925-90033139	GM19193	blood:	n/a	n/a
35	TAF1	chr4:90032524-90032974	A549	lung:	n/a	n/a
36	POLR2A	chr4:90032467-90033086	HUVEC	blood vessel:	n/a	n/a
37	USF1	chr4:90032080-90032726	ECC-1	luminal epithelium:	n/a	chr4:90032093-90032109
38	RELA	chr4:90031877-90033556	GM10847	blood:	n/a	n/a
39	BHLHE40	chr4:90031774-90033235	K562	blood:	n/a	chr4:90032093-90032109 chr4:90031987-90032003
40	YY1	chr4:90032108-90032982	GM12878	blood:	n/a	chr4:90032571-90032582 chr4:90032633-90032642 chr4:90032631-90032645
41	CTCF	chr4:90032097-90032595	K562	blood:	n/a	n/a
42	EP300	chr4:90032219-90033272	GM12878	blood:	n/a	chr4:90032597-90032613
43	MAX	chr4:90031702-90033805	A549	lung:	n/a	chr4:90032609-90032618 chr4:90032634-90032644
44	FOXP2	chr4:90032427-90032998	PFSK-1	brain:	n/a	n/a
45	TEAD4	chr4:90032478-90033059	ECC-1	luminal epithelium:	n/a	n/a
46	EBF1	chr4:90031991-90032947	GM12878	blood:	n/a	chr4:90032399-90032410
47	CBX3	chr4:90031993-90033181	K562	blood:	n/a	n/a
48	POLR2A	chr4:90032368-90036875	HepG2	liver:	n/a	n/a
49	CTCF	chr4:90032129-90032591	A549	lung:	n/a	n/a
50	CTCF	chr4:90032033-90032804	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:90032521-90032571	HEK293	kidney:	embryo
2	chr4:90032521-90032571	AG09319	gingival:	n/a
3	chr4:90032521-90032571	HNPCEpiC	eye:	n/a
4	chr4:90032521-90032571	T-47D	breast:	n/a
5	chr4:90032521-90032571	CMK	blood:	n/a
6	chr4:90032521-90032571	AG09309	skin:	n/a
7	chr4:90032521-90032571	RPTEC	kidney:	n/a
8	chr4:90032521-90032571	GM12892	blood:	n/a
9	chr4:90032521-90032571	GM12891	blood:	n/a
10	chr4:90032521-90032571	Hepatocyte	liver:	n/a
11	chr4:90032521-90032571	NH-A	brain:	n/a
12	chr4:90032521-90032571	AG04449	skin:	fetal
13	chr4:90032521-90032571	HRPEpiC	eye:	n/a
14	chr4:90032521-90032571	PrEC	prostate:	n/a
15	chr4:90032521-90032571	PFSK-1	brain:	n/a
16	chr4:90032521-90032571	U87	brain:	n/a
17	chr4:90032521-90032571	BE2_C	brain:	n/a
18	chr4:90032521-90032571	SK-N-MC	brain:	n/a
19	chr4:90032521-90032571	GM12878	blood:	n/a
20	chr4:90032521-90032571	HMEC	breast:	n/a
21	chr4:90032521-90032571	HRCEpiC	kidney:	n/a
22	chr4:90032521-90032571	IMR90	lung:	fetal
23	chr4:90032521-90032571	HIPEpiC	eye:	n/a
24	chr4:90032521-90032571	HRE	kidney:	n/a
25	chr4:90032521-90032571	ovcar-3	ovarian:	n/a
26	chr4:90032521-90032571	MCF-7	breast:	n/a
27	chr4:90032521-90032571	SK-N-SH_RA	brain:	n/a
28	chr4:90032521-90032571	NHDF-neo	bronchial:	n/a
29	chr4:90032521-90032571	NT2-D1	testis:	n/a
30	chr4:90032521-90032571	NHBE	bronchial:	n/a
31	chr4:90032521-90032571	HCF	heart:	n/a
32	chr4:90032521-90032571	SAEC	small airway:	n/a
33	chr4:90032521-90032571	GM19239	blood:	n/a
34	chr4:90032521-90032571	HCT-116	colon:	n/a
35	chr4:90032521-90032571	Jurkat	blood:	n/a
36	chr4:90032521-90032571	GM06990	blood:	n/a
37	chr4:90032521-90032571	HL-60	blood:	n/a
38	chr4:90032521-90032571	SKMC	muscle:	n/a
39	chr4:90032521-90032571	AoSMC	blood vessel:	n/a
40	chr4:90032521-90032571	HCM	heart:	n/a
41	chr4:90032521-90032571	SK-N-SH	brain:	n/a
42	chr4:90032521-90032571	LNCaP	prostate:	n/a
43	chr4:90032521-90032571	HAEpiC	amniotic membrane:	n/a
44	chr4:90032521-90032571	HepG2	liver:	n/a
45	chr4:90032521-90032571	PANC-1	pancreas:	n/a
46	chr4:90032521-90032571	Caco-2	colon:	n/a
47	chr4:90032521-90032571	AG10803	skin:	n/a
48	chr4:90032521-90032571	A549	lung:	n/a
49	chr4:90032521-90032571	ECC-1	luminal epithelium:	n/a
50	chr4:90032521-90032571	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:89443831..89446134-chr4:90031080..90033028,2	K562	blood:
2	chr4:89977166..89979264-chr4:90032025..90033904,2	K562	blood:
3	chr4:90032248..90033146-chr6:26103791..26104616,2	Hela-S3	cervix:
4	chr4:90030188..90033002-chr4:90049823..90052502,2	MCF-7	breast:

Variant related genes	Relation type
TIGD2	TF binding region
ENSG00000271359	TF binding region
FAM13A	TF binding region
FAM13A	CpG island
TIGD2	CpG island
ENSG00000271359	CpG island
ENSG00000197061	Chromatin interaction
ENSG00000212226	Chromatin interaction
ENSG00000138640	Chromatin interaction
ENSG00000145337	Chromatin interaction
ENSG00000138641	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	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3437234	chr4:90031454-90034302	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1533255	chr4:90032570-90032571	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 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	chr4:90030800-90033600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr4:90031000-90033400	Active TSS	Pancreas	Pancrea
3	chr4:90031200-90033000	Active TSS	Fetal Brain Female	brain
4	chr4:90031200-90033200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr4:90031200-90033400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr4:90031400-90033400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr4:90031400-90033400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr4:90031400-90033600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:90031600-90033200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr4:90031600-90033200	Active TSS	Brain Substantia Nigra	brain
11	chr4:90031600-90033200	Active TSS	Fetal Intestine Small	intestine
12	chr4:90031600-90033400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr4:90031600-90033400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:90031600-90033400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr4:90031600-90033400	Active TSS	Right Atrium	heart
16	chr4:90031600-90033600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr4:90031600-90033600	Active TSS	Placenta Amnion	Placenta Amnion
18	chr4:90031800-90032800	Active TSS	Spleen	Spleen
19	chr4:90031800-90033000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr4:90031800-90033200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:90031800-90033200	Active TSS	Brain Hippocampus Middle	brain
22	chr4:90031800-90033400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr4:90031800-90033400	Active TSS	Fetal Brain Male	brain
24	chr4:90031800-90033400	Active TSS	Fetal Heart	heart
25	chr4:90031800-90033400	Active TSS	Psoas Muscle	Psoas
26	chr4:90031800-90033600	Active TSS	Aorta	Aorta
27	chr4:90031800-90033600	Active TSS	Fetal Kidney	kidney
28	chr4:90031800-90033600	Active TSS	Gastric	stomach
29	chr4:90031800-90033800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr4:90032000-90032800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:90032000-90033000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:90032000-90033000	Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr4:90032000-90033000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr4:90032000-90033200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:90032000-90033200	Active TSS	Primary T cells from cord blood	blood
36	chr4:90032000-90033200	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr4:90032000-90033200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:90032000-90033200	Active TSS	Brain Anterior Caudate	brain
39	chr4:90032000-90033200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr4:90032000-90033200	Active TSS	Colon Smooth Muscle	Colon
41	chr4:90032000-90033200	Active TSS	Fetal Lung	lung
42	chr4:90032000-90033200	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr4:90032000-90033200	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr4:90032000-90033400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:90032000-90033400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:90032000-90033400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:90032000-90033400	Active TSS	Liver	Liver
48	chr4:90032000-90033400	Active TSS	Ovary	ovary
49	chr4:90032000-90033400	Active TSS	Stomach Mucosa	stomach
50	chr4:90032000-90033400	Active TSS	K562	blood

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