Variant report

Variant	rs12034829
Chromosome Location	chr1:225704287-225704288
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	chr1:225703740..225706678-chr1:225717251..225719258,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10495242	0.87[YRI][hapmap]
rs10799312	0.91[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap]
rs10799320	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10915831	0.80[ASN][1000 genomes]
rs10915836	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11588279	0.83[CHB][hapmap]
rs12032961	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1340865	0.92[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap]
rs1771316	0.93[YRI][hapmap]
rs1891000	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2039620	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2066233	0.83[CHB][hapmap]
rs2185528	0.80[ASN][1000 genomes]
rs3766930	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs3893032	1.00[CHB][hapmap];0.89[CHD][hapmap];0.83[JPT][hapmap]
rs4233220	0.84[ASN][1000 genomes]
rs4554690	0.90[ASN][1000 genomes]
rs4653638	0.87[JPT][hapmap]
rs481746	0.82[AMR][1000 genomes]
rs499782	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];0.92[MEX][hapmap];0.86[MKK][hapmap];0.87[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6426075	0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs6692054	0.84[ASN][1000 genomes]
rs6696038	0.83[CHB][hapmap]
rs6702641	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7522622	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7527014	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7527184	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7529690	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9426126	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9725758	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv4720	chr1:225673218-225718009	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12034829	DUSP10	cis	parietal	SCAN
rs12034829	C1orf95	cis	cerebellum	SCAN
rs12034829	HHIPL2	cis	cerebellum	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225687000-225705000	Weak transcription	Spleen	Spleen
2	chr1:225687400-225704400	Weak transcription	Fetal Stomach	stomach
3	chr1:225688600-225704600	Weak transcription	Placenta	Placenta
4	chr1:225688800-225711400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:225689200-225721000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:225691000-225706200	Weak transcription	Primary B cells from cord blood	blood
7	chr1:225691200-225705000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:225692600-225704800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:225695400-225704800	Weak transcription	Fetal Brain Male	brain
10	chr1:225695600-225721200	Weak transcription	Fetal Kidney	kidney
11	chr1:225696600-225705000	Weak transcription	Gastric	stomach
12	chr1:225696800-225704800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:225697200-225704800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:225697200-225704800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:225697200-225704800	Weak transcription	Pancreas	Pancrea
16	chr1:225697200-225705000	Weak transcription	Esophagus	oesophagus
17	chr1:225697200-225705000	Weak transcription	Lung	lung
18	chr1:225697200-225705400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:225697200-225711200	Weak transcription	Fetal Heart	heart
20	chr1:225697200-225716600	Weak transcription	Right Atrium	heart
21	chr1:225697400-225705000	Weak transcription	Aorta	Aorta
22	chr1:225697400-225705000	Weak transcription	Right Ventricle	heart
23	chr1:225697400-225715400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:225697400-225722600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:225697800-225704800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:225697800-225705400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:225697800-225705400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:225697800-225706200	Weak transcription	Psoas Muscle	Psoas
29	chr1:225697800-225706800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:225697800-225707800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:225697800-225708600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:225698200-225705000	Weak transcription	NHEK	skin
33	chr1:225698600-225721000	Weak transcription	Small Intestine	intestine
34	chr1:225700000-225704600	Weak transcription	NHLF	lung
35	chr1:225700000-225705000	Weak transcription	Left Ventricle	heart
36	chr1:225700000-225726400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:225700000-225726400	Weak transcription	HMEC	breast
38	chr1:225700400-225704600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:225700400-225708400	Weak transcription	Dnd41	blood
40	chr1:225700600-225704800	Weak transcription	HSMMtube	muscle
41	chr1:225700600-225706800	Weak transcription	Brain Germinal Matrix	brain
42	chr1:225700800-225704800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:225700800-225707000	Weak transcription	Liver	Liver
44	chr1:225701000-225705000	Weak transcription	NHDF-Ad	bronchial
45	chr1:225701000-225705400	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:225701200-225705200	Weak transcription	NH-A	brain
47	chr1:225701200-225707800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr1:225701400-225727200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:225701400-225744400	Weak transcription	HUVEC	blood vessel
50	chr1:225701400-225747000	Weak transcription	Hela-S3	cervix

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