Variant report

Variant	rs12047033
Chromosome Location	chr1:158012826-158012827
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	chr1:158005662..158007794-chr1:158010533..158013028,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10796989	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10796990	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10796991	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10796992	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10796993	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10796994	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10908613	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10908614	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1925033	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4246542	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4971122	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6686246	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823720	chr1:157978556-158034017	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157997600-158047600	Weak transcription	Dnd41	blood
2	chr1:157999000-158013000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:158001200-158047400	Weak transcription	Thymus	Thymus
4	chr1:158002400-158025400	Weak transcription	Fetal Brain Female	brain
5	chr1:158007800-158013000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:158008000-158014800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:158008000-158019600	Weak transcription	Colonic Mucosa	Colon
8	chr1:158008200-158013000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:158008200-158013000	Weak transcription	Right Atrium	heart
10	chr1:158008200-158015000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:158008200-158018400	Weak transcription	Spleen	Spleen
12	chr1:158008200-158023000	Weak transcription	A549	lung
13	chr1:158008200-158024600	Weak transcription	Placenta	Placenta
14	chr1:158008800-158013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:158008800-158015000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:158009000-158013000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:158009000-158013000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:158009200-158013000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:158009200-158013000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:158009200-158013000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:158009200-158013000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:158009200-158013200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:158009200-158013600	Weak transcription	Fetal Kidney	kidney
24	chr1:158009400-158013000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:158009400-158013000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:158009400-158013000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:158009400-158013400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:158009400-158014800	Weak transcription	Left Ventricle	heart
29	chr1:158009400-158024400	Weak transcription	Hela-S3	cervix
30	chr1:158009600-158013000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:158009600-158013000	Weak transcription	Brain Germinal Matrix	brain
32	chr1:158009600-158013200	Weak transcription	NH-A	brain
33	chr1:158009600-158013400	Weak transcription	Adipose Nuclei	Adipose
34	chr1:158009600-158022600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:158009800-158013000	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:158010000-158013000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:158010000-158013000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:158010000-158013000	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:158010000-158013000	Weak transcription	Fetal Lung	lung
40	chr1:158010000-158014600	Weak transcription	NHDF-Ad	bronchial
41	chr1:158010000-158015000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:158010000-158015000	Weak transcription	HSMMtube	muscle
43	chr1:158010000-158015200	Weak transcription	HUVEC	blood vessel
44	chr1:158010000-158023000	Weak transcription	HSMM	muscle
45	chr1:158010200-158013200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:158010200-158014600	Weak transcription	Osteobl	bone
47	chr1:158010200-158020600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr1:158010800-158013000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:158011000-158013800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:158011000-158015400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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