Variant report

Variant	rs12986705
Chromosome Location	chr2:188440785-188440786
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188433750..188436567-chr2:188440064..188442739,2	K562	blood:
2	chr2:188440243..188443082-chr2:188444632..188448024,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10185793	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10187989	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12986933	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12990547	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2192825	0.93[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.88[MKK][hapmap];0.81[YRI][hapmap];0.87[ASN][1000 genomes]
rs34091242	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4380190	0.88[ASN][1000 genomes]
rs4538162	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4567898	0.89[ASN][1000 genomes]
rs4667169	0.91[ASN][1000 genomes]
rs58412611	0.87[ASN][1000 genomes]
rs60432325	0.92[ASN][1000 genomes]
rs6715469	0.84[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.93[YRI][hapmap];0.87[ASN][1000 genomes]
rs6730608	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71432495	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7594359	0.91[ASW][hapmap];0.85[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.94[YRI][hapmap];0.87[ASN][1000 genomes]
rs7601629	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7603416	0.92[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]

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	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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	nsv875584	chr2:188414161-188500930	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv875585	chr2:188424525-188626214	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv584039	chr2:188435643-188482933	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12986705	ASNSD1	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188419400-188445400	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:188439400-188440800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:188439400-188441000	Enhancers	Osteobl	bone
4	chr2:188439400-188442400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:188439600-188440800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:188439600-188440800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:188439600-188440800	Enhancers	Liver	Liver
8	chr2:188439600-188440800	Enhancers	Fetal Kidney	kidney
9	chr2:188439600-188440800	Flanking Active TSS	HUVEC	blood vessel
10	chr2:188439600-188441000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:188439600-188441000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:188439600-188441000	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr2:188439600-188441200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:188439600-188441200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:188439600-188441200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:188439600-188442200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:188439600-188442400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:188439600-188442400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:188439600-188442400	Enhancers	Hela-S3	cervix
20	chr2:188439600-188442400	Enhancers	HepG2	liver
21	chr2:188439600-188442600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:188439800-188440800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:188439800-188440800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:188439800-188440800	Enhancers	Stomach Mucosa	stomach
25	chr2:188439800-188441000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:188439800-188441400	Weak transcription	Fetal Intestine Large	intestine
27	chr2:188439800-188442600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:188440000-188441000	Enhancers	Small Intestine	intestine
29	chr2:188440000-188445600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:188440200-188441000	Enhancers	Fetal Lung	lung
31	chr2:188440200-188445200	Weak transcription	NH-A	brain
32	chr2:188440400-188440800	Enhancers	NHDF-Ad	bronchial
33	chr2:188440400-188441000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:188440400-188441000	Enhancers	NHLF	lung
35	chr2:188440400-188441600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:188440400-188441600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:188440400-188441600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:188440400-188442400	Enhancers	A549	lung
39	chr2:188440400-188445200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:188440400-188445200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:188440400-188445200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:188440400-188445600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:188440600-188441000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:188440600-188445200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:188440600-188445200	Weak transcription	Adipose Nuclei	Adipose
46	chr2:188440600-188445600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:188440600-188445600	Weak transcription	HSMM	muscle

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