Variant report

Variant	rs11050395
Chromosome Location	chr12:29851479-29851480
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29837250..29839859-chr12:29849610..29851596,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10843487	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843488	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843489	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050349	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11050362	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050366	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11050368	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11050369	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11050370	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11050371	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11050372	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11050373	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11050376	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050377	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050378	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050381	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12228621	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12229285	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12229631	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12229806	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12230192	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12230211	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1549406	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1549407	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16934747	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16934759	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16934763	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16934774	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1863223	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2113877	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2113878	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2162031	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2199622	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2219763	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2219764	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2350662	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2350663	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2882465	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2882466	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56669383	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61309041	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7299952	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs759886	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7978346	0.97[ASN][1000 genomes]
rs9634105	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9634106	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9634107	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv557921	chr12:29843095-29859352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv1826337	chr12:29844526-29851719	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv557930	chr12:29844526-29851719	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv557939	chr12:29844628-29851719	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv557953	chr12:29844857-29851719	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv557956	chr12:29845070-29851719	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29820200-29851600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:29828600-29854000	Weak transcription	Aorta	Aorta
3	chr12:29830000-29854000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:29830000-29861600	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:29830200-29857400	Weak transcription	HSMM	muscle
6	chr12:29830400-29857400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:29830600-29858000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:29830800-29862600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:29837600-29864200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:29838000-29851800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:29839400-29858400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:29840600-29859000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:29844400-29851600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:29848200-29854200	Weak transcription	NHDF-Ad	bronchial
15	chr12:29848200-29855200	Weak transcription	Psoas Muscle	Psoas
16	chr12:29848200-29857200	Weak transcription	Left Ventricle	heart
17	chr12:29849800-29853400	Weak transcription	Adipose Nuclei	Adipose
18	chr12:29850400-29851800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:29850400-29852200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:29850400-29852200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr12:29850400-29852600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:29850400-29854200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:29850800-29852200	Enhancers	HMEC	breast
24	chr12:29851000-29851600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr12:29851000-29851800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr12:29851000-29852200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:29851000-29852400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr12:29851000-29852800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr12:29851200-29851600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:29851200-29851800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:29851200-29852200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:29851200-29852200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr12:29851400-29851600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr12:29851400-29851800	Enhancers	Fetal Kidney	kidney
35	chr12:29851400-29852200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:29851400-29852200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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