Variant report

Variant	rs11050420
Chromosome Location	chr12:29895535-29895536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29893612..29896534-chr12:29900997..29903982,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11050417	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11050418	0.82[EUR][1000 genomes]
rs2054438	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2126891	0.84[CEU][hapmap]

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	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
2	nsv528476	chr12:29884553-29895535	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29863400-29895800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:29879800-29896800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:29880000-29921200	Weak transcription	Fetal Kidney	kidney
4	chr12:29880200-29895800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:29881000-29895600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:29881600-29915800	Weak transcription	Brain Substantia Nigra	brain
7	chr12:29885600-29895800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:29886800-29895800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:29887400-29902000	Weak transcription	Brain Anterior Caudate	brain
10	chr12:29887400-29915600	Weak transcription	Brain Angular Gyrus	brain
11	chr12:29888400-29901200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:29888800-29915600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:29889000-29895800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:29889200-29903200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:29889400-29896800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:29890000-29896200	Weak transcription	Fetal Brain Male	brain
17	chr12:29890200-29904200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:29890200-29915600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:29890600-29913000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:29891000-29896000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:29892400-29896000	Weak transcription	Right Ventricle	heart
22	chr12:29892400-29896800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:29892400-29903000	Weak transcription	Aorta	Aorta
24	chr12:29892400-29903000	Weak transcription	Spleen	Spleen
25	chr12:29892400-29904400	Weak transcription	Esophagus	oesophagus
26	chr12:29892600-29896400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:29892800-29901600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:29893200-29903000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:29893200-29903000	Weak transcription	Fetal Stomach	stomach
30	chr12:29893400-29898000	Enhancers	HMEC	breast
31	chr12:29893600-29898200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:29893800-29896000	Weak transcription	Psoas Muscle	Psoas
33	chr12:29893800-29897800	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:29894000-29897000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:29894200-29897200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:29894200-29897200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr12:29894400-29896400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr12:29894600-29895600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:29894600-29895800	Enhancers	Fetal Heart	heart
40	chr12:29894600-29895800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:29894600-29895800	Enhancers	HSMM	muscle
42	chr12:29894600-29896000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:29894600-29896000	Weak transcription	NHLF	lung
44	chr12:29894600-29896600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:29894600-29896800	Weak transcription	Right Atrium	heart
46	chr12:29894600-29897600	Enhancers	NHEK	skin
47	chr12:29894600-29898200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr12:29894600-29902800	Weak transcription	Left Ventricle	heart
49	chr12:29894600-29904200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:29894600-29907200	Weak transcription	Colon Smooth Muscle	Colon

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