Variant report

Variant	rs62167607
Chromosome Location	chr2:133110242-133110243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:213)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:213 , 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	TAF1	chr2:133110028-133111354	A549	lung:	n/a	n/a
2	FOSL2	chr2:133109955-133110504	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:133109870-133111607	GM12892	blood:	n/a	n/a
4	POLR2A	chr2:133109858-133111532	SK-N-MC	brain:	n/a	n/a
5	USF1	chr2:133110064-133110502	HepG2	liver:	n/a	n/a
6	MAX	chr2:133110208-133110408	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr2:133110200-133110350	Caco-2	colon:	n/a	n/a
8	POLR2A	chr2:133109975-133111351	A549	lung:	n/a	n/a
9	EBF1	chr2:133110033-133110246	GM12878	blood:	n/a	n/a
10	RAD21	chr2:133110041-133110582	MCF-7	breast:	n/a	n/a
11	REST	chr2:133110071-133111253	A549	lung:	n/a	n/a
12	CTCF	chr2:133110180-133110330	MCF-7	breast:	n/a	n/a
13	CTCF	chr2:133110200-133110350	HEEpiC	esophagus:	n/a	n/a
14	CTCF	chr2:133110200-133110350	NHLF	lung:	n/a	n/a
15	CHD2	chr2:133110026-133110444	HepG2	liver:	n/a	n/a
16	CTCF	chr2:133110200-133110350	SK-N-SH_RA	brain:	n/a	n/a
17	TAF1	chr2:133109919-133111560	H1-hESC	embryonic stem cell:	n/a	n/a
18	POU2F2	chr2:133109936-133110991	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:133109816-133111562	H1-hESC	embryonic stem cell:	n/a	n/a
20	SIN3AK20	chr2:133109854-133110391	SK-N-SH	brain:	n/a	n/a
21	CTCF	chr2:133110001-133110615	A549	lung:	n/a	n/a
22	MYC	chr2:133110185-133110362	MCF10A-Er-Src	breast:	n/a	n/a
23	JUND	chr2:133109999-133110476	HepG2	liver:	n/a	n/a
24	CTCFL	chr2:133110168-133110368	K562	blood:	n/a	n/a
25	CTCF	chr2:133110200-133110350	HUVEC	blood vessel:	n/a	n/a
26	ETS1	chr2:133110033-133110528	A549	lung:	n/a	n/a
27	ZBTB33	chr2:133110029-133110435	A549	lung:	n/a	n/a
28	CTCF	chr2:133110196-133110471	A549	lung:	n/a	n/a
29	RCOR1	chr2:133110092-133110409	K562	blood:	n/a	n/a
30	CTCF	chr2:133110180-133110330	HRE	kidney:	n/a	n/a
31	CTCF	chr2:133110191-133110467	MCF-7	breast:	n/a	n/a
32	POLR2A	chr2:133110071-133110408	H1-neurons	neurons:	n/a	n/a
33	FOXP2	chr2:133109958-133110524	SK-N-MC	brain:	n/a	n/a
34	MYC	chr2:133110150-133110457	K562	blood:	n/a	n/a
35	MAX	chr2:133110010-133110439	K562	blood:	n/a	n/a
36	POLR2A	chr2:133109859-133111666	U87	brain:	n/a	n/a
37	CTCF	chr2:133110180-133110330	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr2:133110180-133110330	K562	blood:	n/a	n/a
39	RAD21	chr2:133110143-133110452	HepG2	liver:	n/a	n/a
40	RAD21	chr2:133110127-133110434	K562	blood:	n/a	n/a
41	CTCF	chr2:133110200-133110350	HBMEC	blood vessel:	n/a	n/a
42	TCF3	chr2:133109990-133111175	GM12878	blood:	n/a	n/a
43	TAF1	chr2:133109932-133110402	SK-N-SH	brain:	n/a	n/a
44	CTCF	chr2:133110220-133110370	BE2_C	brain:	n/a	n/a
45	JUND	chr2:133110161-133110305	K562	blood:	n/a	n/a
46	REST	chr2:133110013-133110597	SK-N-SH	brain:	n/a	n/a
47	YY1	chr2:133110023-133110426	HepG2	liver:	n/a	n/a
48	GATA2	chr2:133110051-133111363	SH-SY5Y	brain:	n/a	n/a
49	E2F4	chr2:133110205-133110398	MCF10A-Er-Src	breast:	n/a	n/a
50	TCF12	chr2:133110172-133110352	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:133108915..133111457-chr2:133172343..133174834,3	MCF-7	breast:
2	chr2:133108792..133112199-chr2:133172607..133174892,3	MCF-7	breast:
3	chr2:133110121..133110687-chr8:43101237..43102219,2	MCF-7	breast:
4	chr2:133104869..133106905-chr2:133107987..133110603,2	K562	blood:
5	chr2:133104482..133106618-chr2:133108927..133110502,2	MCF-7	breast:
6	chr2:133109798..133110355-chr20:29611407..29612129,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM201B	TF binding region
ENSG00000272769	Chromatin interaction
ENSG00000183840	Chromatin interaction
ENSG00000253884	Chromatin interaction
ENSG00000149531	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13014225	0.81[AFR][1000 genomes]
rs17322988	0.81[EUR][1000 genomes]
rs1829267	0.81[AFR][1000 genomes]
rs4586687	0.81[AFR][1000 genomes]
rs62167581	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62167612	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875123	chr2:132564973-133127075	Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
2	nsv999341	chr2:132714332-133358577	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
3	nsv916487	chr2:132719325-133355859	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
4	nsv1009861	chr2:132719550-133358577	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
5	esv2763165	chr2:132719550-133358589	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
6	nsv431701	chr2:132722012-133356398	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
7	nsv526029	chr2:132733281-133351415	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
8	nsv999965	chr2:132743229-133358577	Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
9	nsv1011421	chr2:132895241-133682185	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
10	nsv459418	chr2:133034154-133348083	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv583149	chr2:133034154-133348083	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv583150	chr2:133034154-133351703	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv870193	chr2:133036817-133127581	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv875134	chr2:133043404-133127075	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv962022	chr2:133046658-133110808	Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv875135	chr2:133066736-133158922	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv979127	chr2:133105833-133124638	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133109200-133111400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
2	chr2:133109400-133111200	Enhancers	Fetal Brain Male	brain
3	chr2:133109400-133111400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
4	chr2:133109400-133111600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr2:133109400-133111800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr2:133109600-133110400	Active TSS	Brain Anterior Caudate	brain
7	chr2:133109600-133110600	Active TSS	Duodenum Mucosa	Duodenum
8	chr2:133109600-133111400	Active TSS	Colon Smooth Muscle	Colon
9	chr2:133109800-133110400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:133109800-133110400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:133109800-133110400	Active TSS	Brain Germinal Matrix	brain
12	chr2:133109800-133110400	Active TSS	K562	blood
13	chr2:133109800-133110600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:133109800-133110600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:133109800-133110600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:133109800-133110600	Active TSS	Fetal Intestine Small	intestine
17	chr2:133109800-133110600	Active TSS	Pancreas	Pancrea
18	chr2:133109800-133110800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr2:133109800-133110800	Active TSS	Fetal Heart	heart
20	chr2:133109800-133110800	Active TSS	Rectal Smooth Muscle	rectum
21	chr2:133109800-133111200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
22	chr2:133109800-133111200	ZNF genes & repeats	Fetal Brain Female	brain
23	chr2:133109800-133111400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:133109800-133111400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
25	chr2:133109800-133111400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:133109800-133111400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr2:133109800-133111400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:133109800-133111400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:133109800-133111400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
30	chr2:133109800-133111400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
31	chr2:133109800-133111600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr2:133109800-133111600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr2:133109800-133111600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr2:133109800-133111600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr2:133109800-133111600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:133109800-133111600	Active TSS	Brain Angular Gyrus	brain
37	chr2:133109800-133111600	Active TSS	Brain Cingulate Gyrus	brain
38	chr2:133109800-133111600	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr2:133109800-133111800	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr2:133109800-133111800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:133110000-133110400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:133110000-133110400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:133110000-133110400	Bivalent/Poised TSS	Fetal Stomach	stomach
44	chr2:133110000-133110400	Active TSS	Gastric	stomach
45	chr2:133110000-133110400	Active TSS	Ovary	ovary
46	chr2:133110000-133110400	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
47	chr2:133110000-133110400	Active TSS	HepG2	liver
48	chr2:133110000-133110400	Active TSS	NH-A	brain
49	chr2:133110000-133110600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:133110000-133110600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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