Variant report

Variant	rs58835850
Chromosome Location	chr2:188412029-188412030
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:188404419..188406273-chr2:188410816..188412480,2	MCF-7	breast:
2	chr2:188410825..188412949-chr2:190475105..190477931,2	K562	blood:
3	chr2:188407472..188409911-chr2:188410680..188413536,3	MCF-7	breast:
4	chr2:188411707..188414780-chr2:188445119..188447288,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56150351	0.82[AMR][1000 genomes]
rs57506266	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57771370	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59846260	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60764659	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv875564	chr2:188258904-188414161	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv834488	chr2:188268434-188415496	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv875576	chr2:188343497-188482933	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv875577	chr2:188343497-188500930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv875578	chr2:188343497-188690187	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv997899	chr2:188356689-188531831	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1014298	chr2:188359747-188531831	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1013166	chr2:188359747-188544803	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1014942	chr2:188360116-188480738	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv584038	chr2:188370232-188450136	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv875580	chr2:188370232-188521234	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	esv2757845	chr2:188380042-188503185	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	esv2759108	chr2:188380042-188503185	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv875581	chr2:188390819-188521234	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv875582	chr2:188395700-188508011	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv875583	chr2:188395700-188521234	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188392200-188413200	Weak transcription	Psoas Muscle	Psoas
2	chr2:188398400-188418000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:188406200-188418600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:188406600-188413600	Weak transcription	Right Atrium	heart
5	chr2:188406800-188412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:188406800-188412400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:188406800-188413400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:188406800-188415600	Weak transcription	Spleen	Spleen
9	chr2:188406800-188417200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:188406800-188418000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:188406800-188418600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:188406800-188422800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:188407000-188414600	Weak transcription	Fetal Intestine Small	intestine
14	chr2:188407000-188414800	Weak transcription	Small Intestine	intestine
15	chr2:188407200-188414600	Weak transcription	Aorta	Aorta
16	chr2:188408600-188412600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:188408600-188413200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:188408600-188413600	Enhancers	Hela-S3	cervix
19	chr2:188408600-188414600	Enhancers	NHDF-Ad	bronchial
20	chr2:188409000-188412200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:188409200-188414600	Enhancers	Osteobl	bone
22	chr2:188409400-188412200	Weak transcription	Pancreas	Pancrea
23	chr2:188409600-188414200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:188409800-188412200	Enhancers	HSMMtube	muscle
25	chr2:188409800-188412800	Enhancers	NH-A	brain
26	chr2:188409800-188414600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:188409800-188415600	Weak transcription	Placenta	Placenta
28	chr2:188409800-188415600	Weak transcription	Lung	lung
29	chr2:188409800-188415600	Weak transcription	Ovary	ovary
30	chr2:188409800-188416000	Weak transcription	Left Ventricle	heart
31	chr2:188410000-188412600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:188410200-188412600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:188410200-188413200	Weak transcription	Stomach Mucosa	stomach
34	chr2:188410200-188414200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:188410200-188414600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:188410400-188414600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:188410600-188413800	Genic enhancers	HepG2	liver
38	chr2:188410800-188413200	Enhancers	Liver	Liver
39	chr2:188410800-188414000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:188410800-188414600	Weak transcription	Fetal Intestine Large	intestine
41	chr2:188410800-188417800	Weak transcription	Fetal Kidney	kidney
42	chr2:188410800-188420600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:188411000-188416200	Enhancers	Fetal Lung	lung
44	chr2:188411000-188418800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr2:188411200-188412200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:188411200-188412600	Enhancers	Fetal Stomach	stomach
47	chr2:188411200-188412800	Enhancers	Primary hematopoietic stem cells	blood
48	chr2:188411200-188413800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:188411200-188419000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:188411400-188412200	Flanking Active TSS	A549	lung

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