Variant report

Variant	rs527923772
Chromosome Location	chr2:114341601-114341602
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	TCF12	chr2:114341501-114341830	ECC-1	luminal epithelium:	n/a	n/a
2	ELF1	chr2:114341521-114341759	MCF-7	breast:	n/a	chr2:114341621-114341630
3	POLR2A	chr2:114341091-114341899	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr2:114341472-114341905	MCF10A-Er-Src	breast:	n/a	n/a
5	CTCF	chr2:114341505-114341690	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPD	chr2:114341425-114341722	HepG2	liver:	n/a	n/a
7	TAF1	chr2:114341445-114341759	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr2:114340792-114343507	GM12892	blood:	n/a	n/a
9	POLR2A	chr2:114341080-114341896	GM15510	blood:	n/a	n/a
10	REST	chr2:114341198-114342019	H1-hESC	embryonic stem cell:	n/a	chr2:114341929-114341942 chr2:114341545-114341552 chr2:114341543-114341552 chr2:114341630-114341643
11	SPI1	chr2:114341508-114341794	GM12878	blood:	n/a	n/a
12	GABPA	chr2:114341477-114341800	H1-hESC	embryonic stem cell:	n/a	chr2:114341630-114341639
13	HEY1	chr2:114340276-114344058	HepG2	liver:	n/a	n/a
14	TAF1	chr2:114340856-114342386	HepG2	liver:	n/a	n/a
15	ELK4	chr2:114341528-114341785	Hela-S3	cervix:	n/a	chr2:114341688-114341699 chr2:114341671-114341682
16	JUND	chr2:114341448-114341667	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr2:114341280-114341801	K562	blood:	n/a	n/a
18	NANOG	chr2:114341440-114341770	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZBTB33	chr2:114341407-114341726	HepG2	liver:	n/a	n/a
20	TAF1	chr2:114341458-114341707	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr2:114341292-114342340	A549	lung:	n/a	n/a
22	POLR2A	chr2:114341217-114343518	Hela-S3	cervix:	n/a	n/a
23	ZEB1	chr2:114341465-114341699	GM12878	blood:	n/a	n/a
24	POLR2A	chr2:114341176-114342343	A549	lung:	n/a	n/a
25	POLR2A	chr2:114341441-114341779	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr2:114341203-114343523	GM12892	blood:	n/a	n/a
27	POLR2A	chr2:114341316-114341902	HepG2	liver:	n/a	n/a
28	YY1	chr2:114341427-114341786	K562	blood:	n/a	chr2:114341589-114341600 chr2:114341621-114341635
29	HEY1	chr2:114337513-114343481	K562	blood:	n/a	n/a
30	CTCF	chr2:114341500-114341650	GM12866	blood:	n/a	n/a
31	BHLHE40	chr2:114341416-114341782	HepG2	liver:	n/a	n/a
32	SIX5	chr2:114341336-114342059	K562	blood:	n/a	n/a
33	SPI1	chr2:114341526-114341725	HL-60	blood:	n/a	n/a
34	POLR2A	chr2:114340875-114344021	HepG2	liver:	n/a	n/a
35	TBP	chr2:114341527-114341732	HepG2	liver:	n/a	n/a
36	CHD2	chr2:114341362-114341732	GM12878	blood:	n/a	n/a
37	ELF1	chr2:114341138-114341794	GM12878	blood:	n/a	chr2:114341621-114341630
38	EP300	chr2:114341449-114341731	HepG2	liver:	n/a	n/a
39	FOXA1	chr2:114341448-114341696	T-47D	breast:	n/a	n/a
40	POLR2A	chr2:114341067-114341768	K562	blood:	n/a	n/a
41	RCOR1	chr2:114341419-114341714	K562	blood:	n/a	n/a
42	RUNX3	chr2:114341435-114341792	GM12878	blood:	n/a	n/a
43	IRF1	chr2:114341086-114341795	K562	blood:	n/a	chr2:114341264-114341278
44	SP1	chr2:114341476-114341765	HCT-116	colon:	n/a	n/a
45	MAX	chr2:114341450-114341731	ECC-1	luminal epithelium:	n/a	n/a
46	REST	chr2:114341125-114341898	HepG2	liver:	n/a	chr2:114341545-114341552 chr2:114341543-114341552 chr2:114341630-114341643
47	REST	chr2:114341445-114341711	HepG2	liver:	n/a	chr2:114341545-114341552 chr2:114341543-114341552 chr2:114341630-114341643
48	RAD21	chr2:114341435-114341711	SK-N-SH_RA	brain:	n/a	n/a
49	TCF12	chr2:114341249-114341819	A549	lung:	n/a	n/a
50	PBX3	chr2:114341505-114341745	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
MIR1302-3	TF binding region
WASH2P	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
2	nsv428062	chr2:114251945-114428678	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	esv2757827	chr2:114253780-114428678	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv582714	chr2:114280860-114411190	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv1807730	chr2:114312991-114398343	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv821507	chr2:114322271-114376565	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
7	esv15077	chr2:114322827-114361868	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	esv1798912	chr2:114324432-114358204	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
9	esv1806443	chr2:114324432-114359111	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
10	esv1794265	chr2:114328505-114359007	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
11	esv1805084	chr2:114328505-114366024	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
12	esv1809766	chr2:114328505-114378566	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
13	esv1797539	chr2:114328505-114380229	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
14	esv3349788	chr2:114328582-114360780	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
15	nsv10133	chr2:114329841-114364593	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
16	esv3415262	chr2:114333882-114342080	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
17	nsv961640	chr2:114336681-114342320	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island miRNA	2 gene(s)	inside rSNPs	diseases
18	esv3368359	chr2:114340182-114360880	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
19	esv3382093	chr2:114340182-114360880	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
20	esv3335957	chr2:114340482-114360880	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
21	esv3406275	chr2:114340582-114360780	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114340200-114342600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:114340200-114342800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr2:114340400-114342800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr2:114340600-114342400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:114340600-114342400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:114340600-114342400	Active TSS	Fetal Kidney	kidney
7	chr2:114340600-114342400	Active TSS	Thymus	Thymus
8	chr2:114340600-114342600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr2:114340600-114342800	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr2:114340600-114343000	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr2:114340800-114342400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr2:114340800-114342400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr2:114340800-114342400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr2:114340800-114342400	Active TSS	Rectal Smooth Muscle	rectum
15	chr2:114340800-114342400	Active TSS	K562	blood
16	chr2:114340800-114342400	Active TSS	NHEK	skin
17	chr2:114340800-114342600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr2:114340800-114342600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:114340800-114342600	Active TSS	Brain Germinal Matrix	brain
20	chr2:114340800-114342800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:114340800-114342800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:114340800-114342800	Active TSS	HSMM	muscle
23	chr2:114340800-114343000	Active TSS	H9 Cell Line	embryonic stem cell
24	chr2:114340800-114343000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:114340800-114343000	Active TSS	Fetal Brain Female	brain
26	chr2:114341000-114342400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:114341000-114342400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:114341000-114342400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:114341000-114342400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:114341000-114342400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:114341000-114342400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:114341000-114342400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:114341000-114342400	Active TSS	Primary T cells from cord blood	blood
34	chr2:114341000-114342400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:114341000-114342400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:114341000-114342400	Active TSS	Brain Angular Gyrus	brain
37	chr2:114341000-114342400	Active TSS	Brain Anterior Caudate	brain
38	chr2:114341000-114342400	Active TSS	Brain Cingulate Gyrus	brain
39	chr2:114341000-114342400	Active TSS	Brain Hippocampus Middle	brain
40	chr2:114341000-114342400	Active TSS	Brain Substantia Nigra	brain
41	chr2:114341000-114342400	Active TSS	Colon Smooth Muscle	Colon
42	chr2:114341000-114342400	Active TSS	Esophagus	oesophagus
43	chr2:114341000-114342400	Active TSS	Stomach Mucosa	stomach
44	chr2:114341000-114342400	Active TSS	Hela-S3	cervix
45	chr2:114341000-114342600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:114341000-114342600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:114341000-114342600	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr2:114341000-114342600	Active TSS	Ovary	ovary
49	chr2:114341000-114342600	Active TSS	A549	lung
50	chr2:114341000-114342800	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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