Variant report

Variant	rs187314072
Chromosome Location	chr2:114341219-114341220
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	chr2:114341091-114341899	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr2:114340792-114343507	GM12892	blood:	n/a	n/a
3	POLR2A	chr2:114341080-114341896	GM15510	blood:	n/a	n/a
4	REST	chr2:114341198-114342019	H1-hESC	embryonic stem cell:	n/a	chr2:114341929-114341942 chr2:114341545-114341552 chr2:114341543-114341552 chr2:114341630-114341643
5	HEY1	chr2:114340276-114344058	HepG2	liver:	n/a	n/a
6	TAF1	chr2:114340856-114342386	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:114341217-114343518	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr2:114341176-114342343	A549	lung:	n/a	n/a
9	POLR2A	chr2:114341203-114343523	GM12892	blood:	n/a	n/a
10	HEY1	chr2:114337513-114343481	K562	blood:	n/a	n/a
11	POLR2A	chr2:114340875-114344021	HepG2	liver:	n/a	n/a
12	ELF1	chr2:114341138-114341794	GM12878	blood:	n/a	chr2:114341621-114341630
13	POLR2A	chr2:114341067-114341768	K562	blood:	n/a	n/a
14	IRF1	chr2:114341086-114341795	K562	blood:	n/a	chr2:114341264-114341278
15	REST	chr2:114341125-114341898	HepG2	liver:	n/a	chr2:114341545-114341552 chr2:114341543-114341552 chr2:114341630-114341643
16	SP1	chr2:114340742-114343034	GM12878	blood:	n/a	chr2:114342041-114342055 chr2:114342242-114342256 chr2:114341264-114341276 chr2:114341264-114341276 chr2:114341266-114341275 chr2:114341255-114341269
17	POLR2A	chr2:114341032-114341838	K562	blood:	n/a	n/a
18	SP1	chr2:114341078-114342076	A549	lung:	n/a	chr2:114342041-114342055 chr2:114341264-114341276 chr2:114341264-114341276 chr2:114341266-114341275 chr2:114341255-114341269
19	BHLHE40	chr2:114341023-114342085	HepG2	liver:	n/a	n/a
20	POLR2A	chr2:114339445-114343385	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr2:114340966-114343514	PFSK-1	brain:	n/a	n/a
22	ZBTB33	chr2:114340797-114342704	GM12878	blood:	n/a	n/a
23	UBTF	chr2:114341044-114341808	K562	blood:	n/a	n/a
24	MYC	chr2:114341022-114341796	K562	blood:	n/a	n/a
25	TAF1	chr2:114340875-114342372	HepG2	liver:	n/a	n/a
26	ZBTB7A	chr2:114341176-114341355	HepG2	liver:	n/a	n/a
27	ZBTB7A	chr2:114341148-114341388	HepG2	liver:	n/a	n/a
28	SIN3AK20	chr2:114340803-114342377	HepG2	liver:	n/a	n/a
29	SP1	chr2:114338833-114343320	HepG2	liver:	n/a	chr2:114342041-114342055 chr2:114342242-114342256 chr2:114341264-114341276 chr2:114341264-114341276 chr2:114341266-114341275 chr2:114341255-114341269
30	JUND	chr2:114340586-114342962	HepG2	liver:	n/a	chr2:114341797-114341806 chr2:114341793-114341802
31	POLR2A	chr2:114340913-114341892	NB4	blood:	n/a	n/a
32	NR2F2	chr2:114337466-114343058	K562	blood:	n/a	n/a
33	REST	chr2:114341176-114342397	PFSK-1	brain:	n/a	chr2:114341929-114341942 chr2:114341545-114341552 chr2:114341543-114341552 chr2:114341630-114341643
34	POLR2A	chr2:114340878-114341269	K562	blood:	n/a	n/a
35	POLR2A	chr2:114341165-114341898	GM12878	blood:	n/a	n/a
36	POLR2A	chr2:114341197-114342798	U87	brain:	n/a	n/a
37	GABPA	chr2:114341209-114341407	A549	lung:	n/a	n/a
38	TAF1	chr2:114341197-114342395	GM12892	blood:	n/a	n/a
39	POLR2A	chr2:114341134-114342390	GM12878	blood:	n/a	n/a
40	TCF12	chr2:114341175-114342352	GM12878	blood:	n/a	n/a
41	POLR2A	chr2:114340769-114343535	GM12892	blood:	n/a	n/a
42	POLR2A	chr2:114341181-114342354	A549	lung:	n/a	n/a
43	TAF1	chr2:114340850-114342395	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr2:114341126-114341898	GM19193	blood:	n/a	n/a
45	EBF1	chr2:114340792-114342292	GM12878	blood:	n/a	n/a
46	POLR2A	chr2:114340967-114342248	PFSK-1	brain:	n/a	n/a
47	CHD1	chr2:114341046-114341796	IMR90	lung:	n/a	n/a
48	TAF1	chr2:114340557-114342697	H1-hESC	embryonic stem cell:	n/a	n/a
49	TCF7L2	chr2:114341188-114341792	HCT-116	colon:	n/a	n/a
50	ZBTB33	chr2:114341195-114342380	GM12878	blood:	n/a	n/a

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 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	esv3347005	chr2:114328582-114341380	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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	chr2:114340200-114341600	Flanking Active TSS	Dnd41	blood
2	chr2:114340200-114342600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:114340200-114342800	Active TSS	H1 Cell Line	embryonic stem cell
4	chr2:114340400-114342800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr2:114340600-114342400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:114340600-114342400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:114340600-114342400	Active TSS	Fetal Kidney	kidney
8	chr2:114340600-114342400	Active TSS	Thymus	Thymus
9	chr2:114340600-114342600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr2:114340600-114342800	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr2:114340600-114343000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr2:114340800-114341600	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr2:114340800-114341600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:114340800-114341600	Flanking Active TSS	HMEC	breast
15	chr2:114340800-114341600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr2:114340800-114342400	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr2:114340800-114342400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr2:114340800-114342400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr2:114340800-114342400	Active TSS	Rectal Smooth Muscle	rectum
20	chr2:114340800-114342400	Active TSS	K562	blood
21	chr2:114340800-114342400	Active TSS	NHEK	skin
22	chr2:114340800-114342600	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr2:114340800-114342600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:114340800-114342600	Active TSS	Brain Germinal Matrix	brain
25	chr2:114340800-114342800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:114340800-114342800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:114340800-114342800	Active TSS	HSMM	muscle
28	chr2:114340800-114343000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr2:114340800-114343000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:114340800-114343000	Active TSS	Fetal Brain Female	brain
31	chr2:114341000-114341400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr2:114341000-114341400	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr2:114341000-114341400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr2:114341000-114341400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr2:114341000-114341400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr2:114341000-114341400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:114341000-114341400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr2:114341000-114341400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:114341000-114341400	Flanking Active TSS	Fetal Brain Male	brain
40	chr2:114341000-114341400	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr2:114341000-114341400	Flanking Active TSS	Placenta	Placenta
42	chr2:114341000-114341400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr2:114341000-114341400	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr2:114341000-114341400	Flanking Active TSS	NH-A	brain
45	chr2:114341000-114341400	Flanking Active TSS	NHDF-Ad	bronchial
46	chr2:114341000-114341600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:114341000-114341600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:114341000-114341600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr2:114341000-114341600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr2:114341000-114341600	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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