Variant report

Variant	rs12209778
Chromosome Location	chr6:140760403-140760404
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	chr6:140757123..140759381-chr6:140760081..140761694,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10457704	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10484713	0.93[ASN][1000 genomes]
rs11155112	0.93[ASN][1000 genomes]
rs11155113	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11155114	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194177	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194447	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12198267	0.93[ASN][1000 genomes]
rs12202231	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204906	0.93[ASN][1000 genomes]
rs12205549	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206333	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12206883	0.83[AFR][1000 genomes]
rs12206900	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12206912	0.93[ASN][1000 genomes]
rs12210614	0.93[ASN][1000 genomes]
rs12212163	0.93[ASN][1000 genomes]
rs12213758	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs13212274	0.83[AFR][1000 genomes]
rs17318	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17342193	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72979885	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1015293	chr6:140544956-140798437	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv817390	chr6:140558103-141166039	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv432965	chr6:140692307-140866307	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv604767	chr6:140701423-140816108	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv886694	chr6:140701423-141001420	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv524995	chr6:140733855-140801497	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1029179	chr6:140733884-141051309	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
9	esv3377843	chr6:140749308-140767126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140757000-140760600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr6:140757600-140762400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:140758000-140761200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:140758000-140761400	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:140758000-140762200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:140758000-140762200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:140758000-140763600	Enhancers	Fetal Heart	heart
8	chr6:140758200-140761000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:140759000-140761000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:140759200-140763600	Enhancers	NHLF	lung
11	chr6:140759400-140761200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:140759600-140760800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:140759600-140760800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:140759600-140761200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:140759600-140761200	Weak transcription	HSMMtube	muscle
16	chr6:140759600-140762000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:140759600-140762400	Weak transcription	Ovary	ovary
18	chr6:140759600-140767000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:140759800-140760800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:140759800-140761000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:140759800-140761000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:140759800-140761200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:140759800-140761200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:140759800-140761200	Weak transcription	NHDF-Ad	bronchial
25	chr6:140759800-140762400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:140759800-140763400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:140759800-140767000	Weak transcription	HMEC	breast
28	chr6:140760000-140761000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr6:140760000-140761200	Weak transcription	Osteobl	bone
30	chr6:140760200-140761200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr6:140760400-140760600	Enhancers	HSMM	muscle
32	chr6:140760400-140763000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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