Variant report

Variant	rs12204199
Chromosome Location	chr6:72220156-72220157
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:72167541..72168145-chr6:72219544..72220163,2	MCF-7	breast:
2	chr6:71722335..71723101-chr6:72219479..72220477,2	MCF-7	breast:
3	chr6:72218341..72221000-chr6:72791973..72794770,2	K562	blood:
4	chr6:72212184..72214123-chr6:72218579..72220486,2	K562	blood:
5	chr6:72192391..72193083-chr6:72219581..72220329,2	MCF-7	breast:
6	chr6:72093309..72094922-chr6:72219520..72220483,12	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10455234	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10455235	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10455236	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10805938	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10942950	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10942952	0.87[ASN][1000 genomes]
rs1156360	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12190640	0.94[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs12195280	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12195791	0.83[ASN][1000 genomes]
rs12196715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12196908	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12197937	0.87[ASN][1000 genomes]
rs12198869	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12198962	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12202510	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12202744	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12202768	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12204236	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12204508	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12205019	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206174	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206434	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12207845	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12208819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210244	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12213508	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12214509	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12214865	0.87[ASN][1000 genomes]
rs12524773	0.86[ASN][1000 genomes]
rs12524965	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12525003	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12528422	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13204740	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1527712	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1814045	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs199622	0.81[EUR][1000 genomes]
rs199640	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2129327	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4707918	0.86[ASN][1000 genomes]
rs499738	0.93[ASN][1000 genomes]
rs548214	0.93[ASN][1000 genomes]
rs62404028	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62404029	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62404039	0.86[EUR][1000 genomes]
rs6922155	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9358958	0.82[AMR][1000 genomes];0.86[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	nsv830684	chr6:72094842-72282684	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	488 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	chr6:72218400-72220800	Enhancers	Fetal Lung	lung
2	chr6:72218400-72220800	Enhancers	HSMMtube	muscle
3	chr6:72218600-72220600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr6:72218600-72220800	Enhancers	HSMM	muscle
5	chr6:72218800-72220200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:72218800-72220400	Enhancers	NHLF	lung
7	chr6:72218800-72220600	Enhancers	Rectal Smooth Muscle	rectum
8	chr6:72219000-72220200	Enhancers	Osteobl	bone
9	chr6:72219000-72220400	Enhancers	Hela-S3	cervix
10	chr6:72219000-72220600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:72219000-72220800	Enhancers	Fetal Kidney	kidney
12	chr6:72219200-72220200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:72219200-72220200	Enhancers	Brain Cingulate Gyrus	brain
14	chr6:72219200-72220400	Enhancers	Brain Anterior Caudate	brain
15	chr6:72219200-72220400	Enhancers	Stomach Smooth Muscle	stomach
16	chr6:72219200-72220400	Enhancers	NHDF-Ad	bronchial
17	chr6:72219400-72220400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:72219600-72220200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:72219600-72220200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:72219600-72220200	Enhancers	Adipose Nuclei	Adipose
21	chr6:72219600-72220200	Enhancers	Aorta	Aorta
22	chr6:72219600-72220200	Enhancers	A549	lung
23	chr6:72219600-72220400	Enhancers	Brain Hippocampus Middle	brain
24	chr6:72219600-72220400	Enhancers	Colon Smooth Muscle	Colon
25	chr6:72219600-72220400	Enhancers	Fetal Muscle Leg	muscle
26	chr6:72219600-72220800	Enhancers	HUVEC	blood vessel
27	chr6:72219800-72220200	Enhancers	Fetal Stomach	stomach
28	chr6:72219800-72220200	Enhancers	Psoas Muscle	Psoas
29	chr6:72219800-72220200	Enhancers	HMEC	breast
30	chr6:72219800-72220400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr6:72219800-72220400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr6:72219800-72220400	Enhancers	NH-A	brain
33	chr6:72219800-72220800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:72220000-72220200	Enhancers	Brain Substantia Nigra	brain
35	chr6:72220000-72220200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr6:72220000-72220400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:72220000-72220600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:72220000-72222200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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