Variant report

Variant	rs73394185
Chromosome Location	chr12:105184652-105184653
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105184083..105184965-chr12:105220814..105221546,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1038969	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10778350	1.00[EUR][1000 genomes]
rs11112189	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11834087	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12307301	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12320887	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12321404	1.00[EUR][1000 genomes]
rs12579202	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12579469	0.89[ASN][1000 genomes]
rs12579505	0.87[ASN][1000 genomes]
rs12579945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12580114	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12580128	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12580794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12582312	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1565814	0.91[AMR][1000 genomes]
rs17036358	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17036429	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17036433	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17036489	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17036545	0.89[ASN][1000 genomes]
rs4369494	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4545639	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57144501	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57685442	0.90[ASN][1000 genomes]
rs59079144	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60976244	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61129422	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61262317	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61587191	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7301525	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7302213	1.00[EUR][1000 genomes]
rs73383408	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73383420	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73383435	0.90[ASN][1000 genomes]
rs73383439	0.86[ASN][1000 genomes]
rs73383441	0.90[ASN][1000 genomes]
rs73383467	0.89[ASN][1000 genomes]
rs73383473	0.89[ASN][1000 genomes]
rs73394174	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73394186	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396157	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73396159	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73399912	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73399925	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73399927	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73399929	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73399931	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73399934	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73399944	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73399947	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73399956	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73399960	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73399968	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7971315	1.00[EUR][1000 genomes]
rs7971613	1.00[EUR][1000 genomes]
rs7976092	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899496	chr12:105152391-105199038	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105178000-105186400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr12:105178800-105186800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:105179000-105186000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:105179600-105186400	Weak transcription	Ovary	ovary
5	chr12:105182200-105186200	Weak transcription	HMEC	breast
6	chr12:105183000-105186200	Weak transcription	A549	lung
7	chr12:105183000-105186400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:105183000-105186400	Weak transcription	Adipose Nuclei	Adipose
9	chr12:105183000-105186400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:105183000-105186400	Weak transcription	Gastric	stomach
11	chr12:105183000-105186400	Weak transcription	Left Ventricle	heart
12	chr12:105183000-105186800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:105183000-105189800	Weak transcription	Brain Germinal Matrix	brain
14	chr12:105183200-105186200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:105183200-105186400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:105183800-105184800	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:105184000-105184800	Enhancers	K562	blood
18	chr12:105184000-105185000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr12:105184200-105184800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr12:105184200-105184800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:105184400-105184800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:105184400-105186200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:105184400-105186200	Weak transcription	Stomach Mucosa	stomach
24	chr12:105184400-105186400	Weak transcription	Pancreas	Pancrea
25	chr12:105184400-105186400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr12:105184400-105186800	Weak transcription	Right Ventricle	heart
27	chr12:105184600-105184800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr12:105184600-105184800	Bivalent Enhancer	HepG2	liver
29	chr12:105184600-105185000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:105184600-105186200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:105184600-105186200	Weak transcription	Fetal Heart	heart
32	chr12:105184600-105186400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:105184600-105186400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:105184600-105186400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr12:105184600-105186400	Weak transcription	Right Atrium	heart
36	chr12:105184600-105186600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:105184600-105186800	Weak transcription	Spleen	Spleen
38	chr12:105184600-105187400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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