Variant report

Variant	rs2075375
Chromosome Location	chr2:63280690-63280691
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr2:63277910-63287527	NT2-D1	testis:	n/a	n/a
2	CTBP2	chr2:63277946-63286972	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr2:63277954-63284194	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:63271220..63272874-chr2:63280147..63281884,2	K562	blood:
2	chr2:63263370..63266087-chr2:63278699..63280951,3	K562	blood:
3	chr2:63219873..63221847-chr2:63280003..63282163,2	K562	blood:
4	chr2:63279540..63282194-chr2:63714511..63717161,2	MCF-7	breast:
5	chr2:63278911..63281063-chr2:63287085..63289976,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231609	TF binding region
ENSG00000115504	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13410889	0.83[CHD][hapmap]
rs1468748	0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap]
rs2080227	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs2162011	0.89[GIH][hapmap];0.85[LWK][hapmap];0.86[MKK][hapmap];0.89[YRI][hapmap]
rs2539978	0.95[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap]
rs2710637	0.91[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap]
rs2710639	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs6545972	0.86[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs6545973	0.86[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs6705798	0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs6739804	0.83[ASW][hapmap];0.82[LWK][hapmap];0.85[YRI][hapmap]
rs7557501	0.86[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs7567923	0.86[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv3340700	chr2:63127412-63534998	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1004678	chr2:63230722-63562484	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv874233	chr2:63269604-63290449	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63277600-63281800	Bivalent/Poised TSS	NH-A	brain
2	chr2:63278600-63280800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
3	chr2:63278600-63281000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:63278600-63281200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:63278600-63281200	Weak transcription	Gastric	stomach
6	chr2:63278600-63281600	Bivalent Enhancer	Fetal Thymus	thymus
7	chr2:63278600-63287600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr2:63278800-63280800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
9	chr2:63278800-63281000	Weak transcription	Pancreas	Pancrea
10	chr2:63279000-63281000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
11	chr2:63279000-63281400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr2:63279200-63280800	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
13	chr2:63279200-63281000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:63279200-63281800	Weak transcription	A549	lung
15	chr2:63279200-63282200	Weak transcription	HMEC	breast
16	chr2:63279400-63280800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:63279400-63282000	Strong transcription	NHEK	skin
18	chr2:63279600-63282000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
19	chr2:63279600-63283200	Bivalent/Poised TSS	Fetal Brain Female	brain
20	chr2:63279800-63280800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:63279800-63281000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:63279800-63281000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr2:63279800-63281200	Bivalent Enhancer	Liver	Liver
24	chr2:63279800-63284800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:63279800-63286000	Weak transcription	Hela-S3	cervix
26	chr2:63280000-63280800	Weak transcription	Right Atrium	heart
27	chr2:63280000-63281000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
28	chr2:63280000-63281000	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr2:63280000-63281000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
30	chr2:63280000-63281400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:63280000-63281600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:63280000-63282600	Bivalent Enhancer	Fetal Stomach	stomach
33	chr2:63280000-63283000	Bivalent Enhancer	Spleen	Spleen
34	chr2:63280000-63286800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:63280000-63287000	Bivalent Enhancer	Fetal Heart	heart
36	chr2:63280200-63280800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:63280200-63280800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
38	chr2:63280200-63280800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:63280200-63280800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
40	chr2:63280200-63281000	Bivalent Enhancer	Thymus	Thymus
41	chr2:63280200-63281200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
42	chr2:63280200-63282400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:63280200-63282800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:63280200-63283600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
45	chr2:63280400-63280800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
46	chr2:63280400-63281000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
47	chr2:63280400-63281000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
48	chr2:63280400-63281000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
49	chr2:63280400-63281000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:63280400-63281200	Bivalent Enhancer	Brain Hippocampus Middle	brain

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