Variant report

Variant	rs369645575
Chromosome Location	chr2:153191546-153191547
allele	C/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	POLR2A	chr2:153191425-153192524	MCF-7	breast:	n/a	n/a
2	YY1	chr2:153191406-153191637	K562	blood:	n/a	n/a
3	POLR2A	chr2:153191324-153192242	HepG2	liver:	n/a	n/a
4	HNF4G	chr2:153191409-153191940	HepG2	liver:	n/a	n/a
5	CTCF	chr2:153191543-153191563	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr2:153191356-153192064	GM18951	blood:	n/a	n/a
7	EGR1	chr2:153191462-153191759	GM12878	blood:	n/a	chr2:153191603-153191616 chr2:153191621-153191635 chr2:153191603-153191616 chr2:153191578-153191602 chr2:153191604-153191618
8	POLR2A	chr2:153191396-153192286	A549	lung:	n/a	n/a
9	EGR1	chr2:153191316-153191961	ECC-1	luminal epithelium:	n/a	chr2:153191924-153191934 chr2:153191603-153191616 chr2:153191621-153191635 chr2:153191603-153191616 chr2:153191578-153191602 chr2:153191604-153191618
10	EGR1	chr2:153191421-153191869	H1-hESC	embryonic stem cell:	n/a	chr2:153191603-153191616 chr2:153191621-153191635 chr2:153191603-153191616 chr2:153191578-153191602 chr2:153191604-153191618
11	POLR2A	chr2:153191508-153192169	IMR90	lung:	n/a	n/a
12	POLR2A	chr2:153191194-153193475	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr2:153191340-153192971	ECC-1	luminal epithelium:	n/a	chr2:153191887-153191897 chr2:153191811-153191821 chr2:153192533-153192542 chr2:153191925-153191935
14	TAF1	chr2:153191332-153192014	A549	lung:	n/a	n/a
15	RAD21	chr2:153191322-153192440	H1-hESC	embryonic stem cell:	n/a	chr2:153191814-153191824 chr2:153192022-153192035 chr2:153192394-153192404 chr2:153191717-153191730 chr2:153191814-153191826
16	REST	chr2:153191213-153191986	A549	lung:	n/a	chr2:153191944-153191957 chr2:153191667-153191680 chr2:153191592-153191605
17	YY1	chr2:153191437-153191919	ECC-1	luminal epithelium:	n/a	chr2:153191753-153191767 chr2:153191748-153191762 chr2:153191904-153191915
18	HEY1	chr2:153191540-153192269	HepG2	liver:	n/a	chr2:153191748-153191763 chr2:153191981-153191996 chr2:153191896-153191911 chr2:153191887-153191902
19	WRNIP1	chr2:153191421-153191843	GM12878	blood:	n/a	n/a
20	HDAC2	chr2:153191386-153192251	HepG2	liver:	n/a	n/a
21	ZBTB7A	chr2:153191461-153192218	HepG2	liver:	n/a	n/a
22	POLR2A	chr2:153191342-153191972	Hela-S3	cervix:	n/a	n/a
23	YY1	chr2:153191374-153191843	SK-N-SH_RA	brain:	n/a	chr2:153191753-153191767 chr2:153191748-153191762
24	MAX	chr2:153191232-153192980	ECC-1	luminal epithelium:	n/a	chr2:153191887-153191897 chr2:153191811-153191821 chr2:153192533-153192542 chr2:153191925-153191935
25	CTCF	chr2:153191520-153191670	NHDF-neo	bronchial:	n/a	n/a
26	MXI1	chr2:153191404-153192351	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr2:153191465-153191566	GM12891	blood:	n/a	n/a
28	POLR2A	chr2:153191324-153192205	HCT-116	colon:	n/a	n/a
29	MYC	chr2:153191411-153191930	K562	blood:	n/a	chr2:153191887-153191897 chr2:153191811-153191821
30	SIX5	chr2:153191401-153191725	K562	blood:	n/a	n/a
31	MAX	chr2:153191250-153193765	HCT-116	colon:	n/a	chr2:153193010-153193020 chr2:153191887-153191897 chr2:153191811-153191821 chr2:153192533-153192542 chr2:153191925-153191935
32	CREB1	chr2:153191351-153191852	K562	blood:	n/a	n/a
33	TCF12	chr2:153191496-153191827	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr2:153191241-153193852	HepG2	liver:	n/a	n/a
35	CTCF	chr2:153191460-153191610	MCF-7	breast:	n/a	n/a
36	RAD21	chr2:153191336-153191675	Hela-S3	cervix:	n/a	n/a
37	EGR1	chr2:153191233-153192021	HCT-116	colon:	n/a	chr2:153191924-153191934 chr2:153191603-153191616 chr2:153191997-153192007 chr2:153191621-153191635 chr2:153191603-153191616 chr2:153191578-153191602 chr2:153191604-153191618
38	POLR2A	chr2:153191322-153192268	H1-hESC	embryonic stem cell:	n/a	n/a
39	MXI1	chr2:153191165-153194016	IMR90	lung:	n/a	n/a
40	MYC	chr2:153191356-153192000	NB4	blood:	n/a	chr2:153191887-153191897 chr2:153191811-153191821 chr2:153191925-153191935
41	CTCF	chr2:153191466-153191920	MCF-7	breast:	n/a	n/a
42	TBL1XR1	chr2:153191268-153191586	K562	blood:	n/a	n/a
43	MYC	chr2:153191442-153193749	MCF10A-Er-Src	breast:	n/a	chr2:153193010-153193020 chr2:153191887-153191897 chr2:153191811-153191821 chr2:153192533-153192542 chr2:153191925-153191935
44	SIN3AK20	chr2:153191322-153191616	A549	lung:	n/a	n/a
45	CTCF	chr2:153191458-153191556	MCF-7	breast:	n/a	n/a
46	TAF7	chr2:153191447-153191947	H1-hESC	embryonic stem cell:	n/a	n/a
47	JUND	chr2:153191475-153191916	A549	lung:	n/a	n/a
48	SRF	chr2:153191339-153191711	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr2:153191347-153193387	Hela-S3	cervix:	n/a	n/a
50	BHLHE40	chr2:153191523-153192773	GM12878	blood:	n/a	chr2:153191746-153191762 chr2:153191749-153191765 chr2:153192452-153192468 chr2:153192032-153192048 chr2:153191744-153191760 chr2:153192038-153192054

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:153191524-153191574	Hepatocyte	liver:	n/a
2	chr2:153191524-153191574	HAEpiC	amniotic membrane:	n/a
3	chr2:153191524-153191574	HRE	kidney:	n/a
4	chr2:153191524-153191574	ECC-1	luminal epithelium:	n/a
5	chr2:153191524-153191574	IMR90	lung:	fetal
6	chr2:153191524-153191574	NT2-D1	testis:	n/a
7	chr2:153191524-153191574	GM12878	blood:	n/a
8	chr2:153191524-153191574	AG09319	gingival:	n/a
9	chr2:153191524-153191574	MCF10A-Er-Src	breast:	n/a
10	chr2:153191524-153191574	MCF-7	breast:	n/a
11	chr2:153191532-153191582	BE2_C	brain:	n/a
12	chr2:153191532-153191582	SKMC	muscle:	n/a
13	chr2:153191524-153191574	HCT-116	colon:	n/a
14	chr2:153191524-153191574	GM12891	blood:	n/a
15	chr2:153191524-153191574	SAEC	small airway:	n/a
16	chr2:153191532-153191582	GM06990	blood:	n/a
17	chr2:153191524-153191574	AoSMC	blood vessel:	n/a
18	chr2:153191532-153191582	T-47D	breast:	n/a
19	chr2:153191532-153191582	SK-N-MC	brain:	n/a
20	chr2:153191532-153191582	SK-N-SH	brain:	n/a
21	chr2:153191524-153191574	SK-N-SH_RA	brain:	n/a
22	chr2:153191532-153191582	PFSK-1	brain:	n/a
23	chr2:153191532-153191582	AG04449	skin:	fetal
24	chr2:153191524-153191574	GM12892	blood:	n/a
25	chr2:153191532-153191582	HAEpiC	amniotic membrane:	n/a
26	chr2:153191524-153191574	Jurkat	blood:	n/a
27	chr2:153191524-153191574	K562	blood:	n/a
28	chr2:153191532-153191582	Hela-S3	cervix:	n/a
29	chr2:153191532-153191582	MCF10A-Er-Src	breast:	n/a
30	chr2:153191532-153191582	HepG2	liver:	n/a
31	chr2:153191524-153191574	HCPEpiC	choroid plexus:	n/a
32	chr2:153191532-153191582	AoSMC	blood vessel:	n/a
33	chr2:153191532-153191582	HCF	heart:	n/a
34	chr2:153191532-153191582	HMEC	breast:	n/a
35	chr2:153191532-153191582	ovcar-3	ovarian:	n/a
36	chr2:153191532-153191582	GM12892	blood:	n/a
37	chr2:153191524-153191574	T-47D	breast:	n/a
38	chr2:153191524-153191574	AG04450	lung:	fetal
39	chr2:153191524-153191574	SK-N-SH	brain:	n/a
40	chr2:153191532-153191582	AG10803	skin:	n/a
41	chr2:153191532-153191582	U87	brain:	n/a
42	chr2:153191532-153191582	AG09319	gingival:	n/a
43	chr2:153191524-153191574	NB4	blood:	n/a
44	chr2:153191524-153191574	NH-A	brain:	n/a
45	chr2:153191524-153191574	ProgFib	skin:	n/a
46	chr2:153191524-153191574	AG09309	skin:	n/a
47	chr2:153191532-153191582	GM12891	blood:	n/a
48	chr2:153191524-153191574	HPAEpiC	pulmonary alveolar:	n/a
49	chr2:153191532-153191582	PrEC	prostate:	n/a
50	chr2:153191532-153191582	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153030097..153032269-chr2:153191350..153193391,2	MCF-7	breast:
2	chr2:153181849..153185587-chr2:153188964..153191697,3	MCF-7	breast:

Variant related genes	Relation type
FMNL2	TF binding region
FMNL2	CpG island
ENSG00000115145	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693434	chr2:152998467-153208713	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3375546	chr2:153190731-153193579	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153190800-153191600	Flanking Active TSS	NHEK	skin
2	chr2:153190800-153192800	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr2:153191000-153191600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:153191000-153191600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
5	chr2:153191000-153192800	Active TSS	Colonic Mucosa	Colon
6	chr2:153191000-153193200	Active TSS	Adipose Nuclei	Adipose
7	chr2:153191000-153193200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr2:153191000-153193200	Active TSS	Stomach Smooth Muscle	stomach
9	chr2:153191000-153193400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:153191000-153193400	Active TSS	Colon Smooth Muscle	Colon
11	chr2:153191000-153193600	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr2:153191000-153193800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:153191000-153194000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr2:153191000-153194400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr2:153191000-153194600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:153191200-153191600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:153191200-153191600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
18	chr2:153191200-153191600	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr2:153191200-153191600	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr2:153191200-153191600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr2:153191200-153191600	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
22	chr2:153191200-153191600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
23	chr2:153191200-153191600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
24	chr2:153191200-153191600	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr2:153191200-153191600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:153191200-153191600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:153191200-153191600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:153191200-153191600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:153191200-153191600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:153191200-153191600	Flanking Active TSS	Liver	Liver
31	chr2:153191200-153191600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
32	chr2:153191200-153191600	Flanking Active TSS	Fetal Brain Male	brain
33	chr2:153191200-153191600	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr2:153191200-153191600	Flanking Active TSS	HSMM	muscle
35	chr2:153191200-153191600	Flanking Active TSS	HSMMtube	muscle
36	chr2:153191200-153191600	Flanking Active TSS	HUVEC	blood vessel
37	chr2:153191200-153191600	Flanking Active TSS	K562	blood
38	chr2:153191200-153191600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
39	chr2:153191200-153191600	Flanking Active TSS	NH-A	brain
40	chr2:153191200-153191600	Flanking Active TSS	NHDF-Ad	bronchial
41	chr2:153191200-153191800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:153191200-153191800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:153191200-153191800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:153191200-153192000	Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr2:153191200-153192000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:153191200-153192800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr2:153191200-153192800	Active TSS	Right Ventricle	heart
48	chr2:153191200-153192800	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr2:153191200-153192800	Active TSS	GM12878-XiMat	blood
50	chr2:153191200-153193000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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