Variant report

Variant	rs552837504
Chromosome Location	chr2:171573533-171573534
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:208)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:208 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:171573442-171573729	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF12	chr2:171573354-171573857	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr2:171573420-171573570	HCM	heart:	n/a	n/a
4	POLR2A	chr2:171571679-171574265	HepG2	liver:	n/a	n/a
5	CTCF	chr2:171573440-171573590	GM12869	blood:	n/a	n/a
6	HNF4A	chr2:171570620-171573709	HepG2	liver:	n/a	chr2:171572142-171572160 chr2:171572143-171572158
7	CTCF	chr2:171573420-171573570	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr2:171573366-171573749	A549	lung:	n/a	n/a
9	CTCF	chr2:171573393-171573660	A549	lung:	n/a	n/a
10	MXI1	chr2:171573405-171573741	H1-hESC	embryonic stem cell:	n/a	n/a
11	EGR1	chr2:171572761-171573676	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr2:171573460-171573610	NB4	blood:	n/a	n/a
13	CTCF	chr2:171573400-171573550	RPTEC	kidney:	n/a	n/a
14	CTCF	chr2:171573422-171573640	GM12878	blood:	n/a	n/a
15	CTCF	chr2:171573420-171573570	GM12873	blood:	n/a	n/a
16	SIN3A	chr2:171573381-171573698	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr2:171573440-171573590	HPF	lung:	n/a	n/a
18	CTCF	chr2:171573420-171573570	HAc	cerebellar:	n/a	n/a
19	CEBPD	chr2:171570697-171573739	HepG2	liver:	n/a	n/a
20	CTCF	chr2:171573413-171573665	GM19238	blood:	n/a	n/a
21	CTCF	chr2:171573440-171573590	HA-sp	spinal cord:	n/a	n/a
22	MAX	chr2:171573497-171573747	A549	lung:	n/a	n/a
23	MYC	chr2:171573532-171573805	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr2:171573440-171573590	GM12870	blood:	n/a	n/a
25	RCOR1	chr2:171573359-171573989	HepG2	liver:	n/a	n/a
26	CTCF	chr2:171573420-171573570	AoAF	blood vessel:	n/a	n/a
27	USF2	chr2:171573505-171573784	HepG2	liver:	n/a	n/a
28	MAX	chr2:171567494-171574371	HepG2	liver:	n/a	chr2:171572484-171572494 chr2:171572090-171572100 chr2:171568528-171568538
29	CTCF	chr2:171573462-171573567	HepG2	liver:	n/a	n/a
30	CTCF	chr2:171573400-171573550	BJ	skin:	n/a	n/a
31	TCF12	chr2:171573374-171573713	HepG2	liver:	n/a	n/a
32	ZNF143	chr2:171573358-171573732	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr2:171573400-171573550	AoAF	blood vessel:	n/a	n/a
34	BHLHE40	chr2:171573500-171573776	A549	lung:	n/a	n/a
35	CTCF	chr2:171573420-171573570	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr2:171573391-171573654	GM12878	blood:	n/a	n/a
37	CTCF	chr2:171573346-171573603	HepG2	liver:	n/a	n/a
38	CTCF	chr2:171573264-171573726	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr2:171573460-171573610	SAEC	small airway:	n/a	n/a
40	CTCF	chr2:171573387-171573655	Medullo	brain:	n/a	n/a
41	CTCF	chr2:171573460-171573610	GM12866	blood:	n/a	n/a
42	USF1	chr2:171573506-171573706	SK-N-SH_RA	brain:	n/a	n/a
43	ATF3	chr2:171573402-171573659	HepG2	liver:	n/a	n/a
44	RAD21	chr2:171573380-171573662	IMR90	lung:	n/a	n/a
45	CTCF	chr2:171573440-171573590	GM12868	blood:	n/a	n/a
46	MXI1	chr2:171570562-171574086	HepG2	liver:	n/a	n/a
47	MBD4	chr2:171573282-171575454	HepG2	liver:	n/a	n/a
48	RFX5	chr2:171573347-171573609	HepG2	liver:	n/a	n/a
49	USF1	chr2:171573499-171573705	SK-N-SH_RA	brain:	n/a	n/a
50	MAX	chr2:171573027-171573804	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171571171..171574868-chr2:171624858..171628652,5	K562	blood:
2	chr2:171568787..171573894-chr2:171626202..171629385,10	K562	blood:

No data

Variant related genes	Relation type
LINC01124	TF binding region
ENSG00000239467	Chromatin interaction
ENSG00000234350	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875409	chr2:171565376-171577859	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv821786	chr2:171567780-171574707	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv15608	chr2:171569890-171574062	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3324673	chr2:171572331-171574879	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1800387	chr2:171572702-171573980	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1801543	chr2:171572702-171573980	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1840021	chr2:171572702-171573980	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171569400-171574400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr2:171569600-171574800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr2:171569600-171575600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:171570000-171574000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
5	chr2:171570000-171575600	Bivalent/Poised TSS	HepG2	liver
6	chr2:171570000-171576200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr2:171570200-171573800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:171570200-171574200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:171570200-171574400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr2:171570200-171576200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr2:171570400-171574000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:171570400-171574200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:171570400-171576200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:171570600-171574000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
15	chr2:171570800-171574000	Bivalent/Poised TSS	HSMM	muscle
16	chr2:171571200-171573600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
17	chr2:171571800-171573600	Bivalent Enhancer	Fetal Brain Male	brain
18	chr2:171571800-171574200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:171571800-171574200	Bivalent Enhancer	Fetal Heart	heart
20	chr2:171571800-171575200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:171571800-171577000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:171572200-171574400	Bivalent Enhancer	Stomach Mucosa	stomach
23	chr2:171572400-171573600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr2:171572400-171573800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:171572400-171574000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:171572400-171574200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
27	chr2:171572400-171574200	Bivalent Enhancer	Spleen	Spleen
28	chr2:171572400-171574800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:171572400-171575000	Bivalent Enhancer	Fetal Thymus	thymus
30	chr2:171572600-171573600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:171572600-171573600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
32	chr2:171572600-171573600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
33	chr2:171572600-171573600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
34	chr2:171572600-171573600	Bivalent Enhancer	Left Ventricle	heart
35	chr2:171572600-171573600	Active TSS	Rectal Smooth Muscle	rectum
36	chr2:171572600-171573600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr2:171572600-171573800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:171572600-171573800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
39	chr2:171572600-171573800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
40	chr2:171572600-171573800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
41	chr2:171572600-171573800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
42	chr2:171572600-171574000	Enhancers	Liver	Liver
43	chr2:171572600-171574000	Enhancers	Pancreas	Pancrea
44	chr2:171572600-171574000	Active TSS	Right Atrium	heart
45	chr2:171572600-171574200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
46	chr2:171572800-171573600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
47	chr2:171572800-171574400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr2:171572800-171574600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:171573000-171573600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
50	chr2:171573000-171573600	Enhancers	Primary hematopoietic stem cells	blood

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