Variant report

Variant	rs6752335
Chromosome Location	chr2:111452539-111452540
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111447915..111450882-chr2:111451091..111454468,3	K562	blood:
2	chr2:111450177..111452870-chr2:111458026..111461829,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10175974	1.00[CEU][hapmap]
rs10203271	1.00[CEU][hapmap]
rs11900983	1.00[CEU][hapmap]
rs11903773	1.00[CEU][hapmap]
rs12474907	0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs13386878	1.00[CEU][hapmap]
rs13388313	0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs13398617	1.00[CEU][hapmap]
rs13410685	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs13415981	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs13421709	0.88[EUR][1000 genomes]
rs13426054	1.00[CEU][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs13430683	1.00[CEU][hapmap]
rs4255970	1.00[CEU][hapmap]
rs56110941	0.84[ASN][1000 genomes]
rs56165253	0.87[ASN][1000 genomes]
rs66616139	0.81[ASN][1000 genomes]
rs6728168	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs68130860	0.88[EUR][1000 genomes]
rs72828836	0.84[ASN][1000 genomes]
rs72828847	0.88[EUR][1000 genomes]
rs72828848	0.88[EUR][1000 genomes]
rs72828850	0.88[EUR][1000 genomes]
rs7419932	1.00[CEU][hapmap]
rs7581640	1.00[CEU][hapmap]
rs7592058	0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs7609252	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008581	chr2:110826262-111487021	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv994221	chr2:110847086-111453103	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv436279	chr2:110850697-111453448	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv435724	chr2:110851622-111453839	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3502444	chr2:110852415-111453435	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv3460817	chr2:110852627-111453192	Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	esv3502445	chr2:110852643-111453216	Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	esv3460819	chr2:110852686-111453177	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	esv3460820	chr2:110852686-111453177	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	esv3502446	chr2:110852704-111453148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	esv3502447	chr2:110852704-111453148	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv874836	chr2:110983050-111463391	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	nsv874837	chr2:111367727-111463391	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv582696	chr2:111367727-111469138	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv582698	chr2:111387676-111452539	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv961867	chr2:111452410-111457082	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111450600-111453000	Enhancers	Fetal Intestine Small	intestine
2	chr2:111451200-111453000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:111451400-111453000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:111451400-111453000	Enhancers	Fetal Intestine Large	intestine
5	chr2:111451400-111453200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:111451400-111453200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:111451400-111453200	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:111451400-111453600	Enhancers	Dnd41	blood
9	chr2:111451600-111452800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:111451600-111453000	Enhancers	Ovary	ovary
11	chr2:111451600-111453200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:111451600-111453400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr2:111451800-111453200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:111451800-111453200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:111451800-111453200	Enhancers	Fetal Heart	heart
16	chr2:111452000-111452800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:111452000-111453200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:111452200-111452600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr2:111452200-111452600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:111452200-111452800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:111452200-111453200	Enhancers	Fetal Thymus	thymus
22	chr2:111452200-111453200	Flanking Active TSS	K562	blood
23	chr2:111452400-111452600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:111452400-111452800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:111452400-111452800	Enhancers	Left Ventricle	heart
26	chr2:111452400-111453000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:111452400-111453000	Enhancers	Fetal Lung	lung
28	chr2:111452400-111453200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:111452400-111453200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:111452400-111457000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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