Variant report

Variant	rs62179527
Chromosome Location	chr2:153191399-153191400
allele	G/T
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	chr2:153191324-153192242	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:153191356-153192064	GM18951	blood:	n/a	n/a
3	POLR2A	chr2:153191396-153192286	A549	lung:	n/a	n/a
4	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
5	POLR2A	chr2:153191194-153193475	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr2:153191340-153192971	ECC-1	luminal epithelium:	n/a	chr2:153191887-153191897 chr2:153191811-153191821 chr2:153192533-153192542 chr2:153191925-153191935
7	TAF1	chr2:153191332-153192014	A549	lung:	n/a	n/a
8	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
9	REST	chr2:153191213-153191986	A549	lung:	n/a	chr2:153191944-153191957 chr2:153191667-153191680 chr2:153191592-153191605
10	HDAC2	chr2:153191386-153192251	HepG2	liver:	n/a	n/a
11	POLR2A	chr2:153191342-153191972	Hela-S3	cervix:	n/a	n/a
12	YY1	chr2:153191374-153191843	SK-N-SH_RA	brain:	n/a	chr2:153191753-153191767 chr2:153191748-153191762
13	MAX	chr2:153191232-153192980	ECC-1	luminal epithelium:	n/a	chr2:153191887-153191897 chr2:153191811-153191821 chr2:153192533-153192542 chr2:153191925-153191935
14	POLR2A	chr2:153191324-153192205	HCT-116	colon:	n/a	n/a
15	MAX	chr2:153191250-153193765	HCT-116	colon:	n/a	chr2:153193010-153193020 chr2:153191887-153191897 chr2:153191811-153191821 chr2:153192533-153192542 chr2:153191925-153191935
16	CREB1	chr2:153191351-153191852	K562	blood:	n/a	n/a
17	CREB1	chr2:153191241-153193852	HepG2	liver:	n/a	n/a
18	RAD21	chr2:153191336-153191675	Hela-S3	cervix:	n/a	n/a
19	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
20	POLR2A	chr2:153191322-153192268	H1-hESC	embryonic stem cell:	n/a	n/a
21	MXI1	chr2:153191165-153194016	IMR90	lung:	n/a	n/a
22	MYC	chr2:153191356-153192000	NB4	blood:	n/a	chr2:153191887-153191897 chr2:153191811-153191821 chr2:153191925-153191935
23	TBL1XR1	chr2:153191268-153191586	K562	blood:	n/a	n/a
24	SIN3AK20	chr2:153191322-153191616	A549	lung:	n/a	n/a
25	SRF	chr2:153191339-153191711	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr2:153191347-153193387	Hela-S3	cervix:	n/a	n/a
27	E2F4	chr2:153191396-153191712	MCF10A-Er-Src	breast:	n/a	n/a
28	TAF1	chr2:153191296-153191938	PFSK-1	brain:	n/a	n/a
29	SIX5	chr2:153191380-153191674	K562	blood:	n/a	n/a
30	CTCF	chr2:153191380-153191530	GM12867	blood:	n/a	n/a
31	SRF	chr2:153191354-153191638	GM12878	blood:	n/a	n/a
32	CREB1	chr2:153191206-153191949	K562	blood:	n/a	n/a
33	POLR2A	chr2:153191313-153192284	HepG2	liver:	n/a	n/a
34	SIN3AK20	chr2:153191276-153193399	PANC-1	pancreas:	n/a	n/a
35	YY1	chr2:153191394-153191878	A549	lung:	n/a	chr2:153191753-153191767 chr2:153191748-153191762
36	NRF1	chr2:153191388-153191706	GM12878	blood:	n/a	n/a
37	SIX5	chr2:153191389-153191735	GM12878	blood:	n/a	n/a
38	POLR2A	chr2:153191283-153192056	HUVEC	blood vessel:	n/a	n/a
39	RCOR1	chr2:153191349-153191549	K562	blood:	n/a	n/a
40	RAD21	chr2:153191311-153192148	SK-N-SH_RA	brain:	n/a	chr2:153191814-153191824 chr2:153192022-153192035 chr2:153191717-153191730 chr2:153191814-153191826
41	MAZ	chr2:153191357-153192929	HepG2	liver:	n/a	chr2:153191887-153191897 chr2:153191811-153191821 chr2:153192533-153192542 chr2:153191925-153191935
42	EGR1	chr2:153191372-153191953	K562	blood:	n/a	chr2:153191924-153191934 chr2:153191603-153191616 chr2:153191621-153191635 chr2:153191603-153191616 chr2:153191578-153191602 chr2:153191604-153191618
43	YY1	chr2:153191324-153191861	GM12878	blood:	n/a	chr2:153191753-153191767 chr2:153191748-153191762
44	POLR2A	chr2:153191346-153191934	HepG2	liver:	n/a	n/a
45	MAX	chr2:153191215-153193704	A549	lung:	n/a	chr2:153193010-153193020 chr2:153191887-153191897 chr2:153191811-153191821 chr2:153192533-153192542 chr2:153191925-153191935
46	CREB1	chr2:153191256-153191870	H1-hESC	embryonic stem cell:	n/a	n/a
47	SIX5	chr2:153191326-153191759	K562	blood:	n/a	n/a
48	POLR2A	chr2:153191289-153192013	ProgFib	skin:	n/a	n/a
49	POLR2A	chr2:153191289-153191899	PANC-1	pancreas:	n/a	n/a
50	E2F6	chr2:153191374-153191646	K562	blood:	n/a	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
ENSG00000115145	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62176519	1.00[EUR][1000 genomes]
rs62176525	0.83[EUR][1000 genomes]

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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153190800-153191400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:153190800-153191400	Flanking Bivalent TSS/Enh	HepG2	liver
3	chr2:153190800-153191600	Flanking Active TSS	NHEK	skin
4	chr2:153190800-153192800	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr2:153191000-153191400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:153191000-153191400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr2:153191000-153191400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:153191000-153191400	Flanking Active TSS	Brain Angular Gyrus	brain
9	chr2:153191000-153191400	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr2:153191000-153191600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:153191000-153191600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
12	chr2:153191000-153192800	Active TSS	Colonic Mucosa	Colon
13	chr2:153191000-153193200	Active TSS	Adipose Nuclei	Adipose
14	chr2:153191000-153193200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr2:153191000-153193200	Active TSS	Stomach Smooth Muscle	stomach
16	chr2:153191000-153193400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:153191000-153193400	Active TSS	Colon Smooth Muscle	Colon
18	chr2:153191000-153193600	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr2:153191000-153193800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:153191000-153194000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr2:153191000-153194400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr2:153191000-153194600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:153191200-153191400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
24	chr2:153191200-153191400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:153191200-153191400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr2:153191200-153191400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr2:153191200-153191400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr2:153191200-153191400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr2:153191200-153191400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:153191200-153191400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr2:153191200-153191400	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr2:153191200-153191400	Flanking Active TSS	Fetal Stomach	stomach
33	chr2:153191200-153191400	Bivalent Enhancer	Fetal Thymus	thymus
34	chr2:153191200-153191400	Flanking Active TSS	Hela-S3	cervix
35	chr2:153191200-153191400	Flanking Active TSS	Osteobl	bone
36	chr2:153191200-153191600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:153191200-153191600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
38	chr2:153191200-153191600	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr2:153191200-153191600	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr2:153191200-153191600	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr2:153191200-153191600	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
42	chr2:153191200-153191600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
43	chr2:153191200-153191600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
44	chr2:153191200-153191600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr2:153191200-153191600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:153191200-153191600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:153191200-153191600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:153191200-153191600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:153191200-153191600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:153191200-153191600	Flanking Active TSS	Liver	Liver

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