Variant report

Variant	rs370150365
Chromosome Location	chr2:171573357-171573358
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	TCF12	chr2:171573354-171573857	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:171571679-171574265	HepG2	liver:	n/a	n/a
3	HNF4A	chr2:171570620-171573709	HepG2	liver:	n/a	chr2:171572142-171572160 chr2:171572143-171572158
4	EGR1	chr2:171572761-171573676	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPD	chr2:171570697-171573739	HepG2	liver:	n/a	n/a
6	MAX	chr2:171567494-171574371	HepG2	liver:	n/a	chr2:171572484-171572494 chr2:171572090-171572100 chr2:171568528-171568538
7	CTCF	chr2:171573346-171573603	HepG2	liver:	n/a	n/a
8	CTCF	chr2:171573264-171573726	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr2:171570562-171574086	HepG2	liver:	n/a	n/a
10	MBD4	chr2:171573282-171575454	HepG2	liver:	n/a	n/a
11	RFX5	chr2:171573347-171573609	HepG2	liver:	n/a	n/a
12	MAX	chr2:171573027-171573804	HepG2	liver:	n/a	n/a
13	MAX	chr2:171567137-171574353	HepG2	liver:	n/a	chr2:171572484-171572494 chr2:171572090-171572100 chr2:171568528-171568538
14	BHLHE40	chr2:171573304-171573734	HepG2	liver:	n/a	n/a
15	GABPA	chr2:171573323-171573730	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr2:171571577-171574339	HepG2	liver:	n/a	n/a
17	E2F6	chr2:171572637-171574298	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF1	chr2:171571636-171574190	HepG2	liver:	n/a	n/a
19	RAD21	chr2:171573258-171573763	HepG2	liver:	n/a	n/a
20	MAX	chr2:171572870-171574256	H1-hESC	embryonic stem cell:	n/a	n/a
21	YY1	chr2:171571681-171574134	HepG2	liver:	n/a	chr2:171571931-171571945 chr2:171574026-171574038 chr2:171571977-171571986
22	HEY1	chr2:171566552-171576261	HepG2	liver:	n/a	chr2:171568717-171568732 chr2:171568723-171568738 chr2:171568409-171568424 chr2:171571862-171571877
23	RAD21	chr2:171573314-171573678	HepG2	liver:	n/a	n/a
24	RAD21	chr2:171573313-171573731	H1-hESC	embryonic stem cell:	n/a	n/a
25	BHLHE40	chr2:171573270-171574024	HepG2	liver:	n/a	n/a
26	MYBL2	chr2:171573173-171574324	HepG2	liver:	n/a	n/a
27	MAX	chr2:171573353-171573863	A549	lung:	n/a	n/a
28	RAD21	chr2:171573286-171573623	SK-N-SH_RA	brain:	n/a	n/a
29	RAD21	chr2:171573277-171573723	HepG2	liver:	n/a	n/a
30	RAD21	chr2:171573348-171573590	SK-N-SH_RA	brain:	n/a	n/a
31	HEY1	chr2:171566435-171575595	HepG2	liver:	n/a	chr2:171568717-171568732 chr2:171568723-171568738 chr2:171568409-171568424 chr2:171571862-171571877
32	REST	chr2:171573247-171573966	HepG2	liver:	n/a	n/a
33	CTCF	chr2:171573357-171573695	IMR90	lung:	n/a	n/a
34	E2F6	chr2:171572880-171574187	H1-hESC	embryonic stem cell:	n/a	n/a
35	MBD4	chr2:171573317-171574225	HepG2	liver:	n/a	n/a
36	HDAC2	chr2:171573157-171573860	HepG2	liver:	n/a	n/a
37	CTCF	chr2:171573222-171573989	SK-N-SH	brain:	n/a	n/a
38	CTCF	chr2:171573337-171573739	H1-hESC	embryonic stem cell:	n/a	n/a
39	YY1	chr2:171573239-171574185	H1-hESC	embryonic stem cell:	n/a	chr2:171574026-171574038
40	RAD21	chr2:171573213-171573773	H1-hESC	embryonic stem cell:	n/a	n/a
41	TBP	chr2:171573300-171573571	HepG2	liver:	n/a	n/a
42	POLR2A	chr2:171566818-171576833	HepG2	liver:	n/a	n/a
43	POLR2A	chr2:171571636-171576275	HepG2	liver:	n/a	n/a
44	POLR2A	chr2:171567743-171574223	HepG2	liver:	n/a	n/a
45	RAD21	chr2:171573320-171573726	SK-N-SH	brain:	n/a	n/a
46	HNF4A	chr2:171573187-171573601	HepG2	liver:	n/a	n/a
47	MAZ	chr2:171570965-171573691	HepG2	liver:	n/a	chr2:171572484-171572494 chr2:171572090-171572100
48	HNF4G	chr2:171573235-171573608	HepG2	liver:	n/a	n/a
49	RAD21	chr2:171573304-171573719	A549	lung:	n/a	n/a
50	NFIC	chr2:171573342-171573913	HepG2	liver:	n/a	n/a

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:

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

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv583610	chr2:171568633-171573529	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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:86 , 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	chr2:171570400-171573400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr2:171570400-171574000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:171570400-171574200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:171570400-171576200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:171570600-171573400	Active TSS	Aorta	Aorta
16	chr2:171570600-171574000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
17	chr2:171570800-171574000	Bivalent/Poised TSS	HSMM	muscle
18	chr2:171571200-171573600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
19	chr2:171571800-171573400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:171571800-171573600	Bivalent Enhancer	Fetal Brain Male	brain
21	chr2:171571800-171574200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:171571800-171574200	Bivalent Enhancer	Fetal Heart	heart
23	chr2:171571800-171575200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:171571800-171577000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:171572200-171574400	Bivalent Enhancer	Stomach Mucosa	stomach
26	chr2:171572400-171573400	Bivalent/Poised TSS	Fetal Brain Female	brain
27	chr2:171572400-171573400	Bivalent/Poised TSS	Psoas Muscle	Psoas
28	chr2:171572400-171573600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr2:171572400-171573800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:171572400-171574000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:171572400-171574200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
32	chr2:171572400-171574200	Bivalent Enhancer	Spleen	Spleen
33	chr2:171572400-171574800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:171572400-171575000	Bivalent Enhancer	Fetal Thymus	thymus
35	chr2:171572600-171573600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:171572600-171573600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
37	chr2:171572600-171573600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
38	chr2:171572600-171573600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
39	chr2:171572600-171573600	Bivalent Enhancer	Left Ventricle	heart
40	chr2:171572600-171573600	Active TSS	Rectal Smooth Muscle	rectum
41	chr2:171572600-171573600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
42	chr2:171572600-171573800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:171572600-171573800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
44	chr2:171572600-171573800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
45	chr2:171572600-171573800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
46	chr2:171572600-171573800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
47	chr2:171572600-171574000	Enhancers	Liver	Liver
48	chr2:171572600-171574000	Enhancers	Pancreas	Pancrea
49	chr2:171572600-171574000	Active TSS	Right Atrium	heart
50	chr2:171572600-171574200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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