Variant report

Variant	rs10478703
Chromosome Location	chr6:12291822-12291823
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:12290607..12292207-chr6:12570629..12572631,2	MCF-7	breast:
2	chr6:12291605..12293839-chr6:12604176..12606069,2	MCF-7	breast:
3	chr6:12143600..12146335-chr6:12290629..12293218,2	MCF-7	breast:
4	chr6:12009898..12015137-chr6:12286715..12292291,9	MCF-7	breast:
5	chr6:12291231..12293200-chr6:12307475..12310312,2	K562	blood:
6	chr6:12291147..12293280-chr6:12600052..12602342,2	MCF-7	breast:
7	chr6:12290618..12292795-chr6:12486074..12487938,2	MCF-7	breast:
8	chr6:12289158..12291456-chr6:12291763..12294745,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000095951	Chromatin interaction
ENSG00000078401	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13362690	1.00[AMR][1000 genomes]
rs219967	1.00[EUR][1000 genomes]
rs219968	1.00[EUR][1000 genomes]
rs55876140	1.00[AMR][1000 genomes]
rs73369214	1.00[EUR][1000 genomes]
rs73722771	1.00[AMR][1000 genomes]
rs73722796	1.00[EUR][1000 genomes]
rs7763090	1.00[EUR][1000 genomes]
rs9462730	1.00[AMR][1000 genomes]
rs9471867	1.00[EUR][1000 genomes]

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	nsv830586	chr6:12130076-12295334	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv508394	chr6:12285464-12386745	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12289000-12292800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr6:12289400-12294200	Active TSS	Right Atrium	heart
3	chr6:12289600-12292400	Active TSS	Fetal Intestine Small	intestine
4	chr6:12289600-12292400	Active TSS	Stomach Smooth Muscle	stomach
5	chr6:12289600-12292800	Active TSS	Placenta Amnion	Placenta Amnion
6	chr6:12289600-12293000	Active TSS	HSMM	muscle
7	chr6:12289800-12292400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:12289800-12292400	Active TSS	Left Ventricle	heart
9	chr6:12289800-12292600	Active TSS	Right Ventricle	heart
10	chr6:12289800-12292800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr6:12289800-12292800	Bivalent/Poised TSS	Fetal Kidney	kidney
12	chr6:12289800-12293000	Active TSS	Pancreas	Pancrea
13	chr6:12289800-12293200	Active TSS	Aorta	Aorta
14	chr6:12289800-12293200	Active TSS	Colonic Mucosa	Colon
15	chr6:12289800-12293200	Active TSS	Psoas Muscle	Psoas
16	chr6:12290000-12292000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:12290000-12292400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr6:12290000-12292600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:12290000-12292800	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr6:12290000-12293800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:12290200-12292400	Bivalent/Poised TSS	Fetal Stomach	stomach
22	chr6:12290200-12293200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
23	chr6:12290600-12292400	Weak transcription	Gastric	stomach
24	chr6:12290800-12292600	Flanking Active TSS	Hela-S3	cervix
25	chr6:12290800-12292600	Flanking Active TSS	Osteobl	bone
26	chr6:12290800-12297200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
27	chr6:12291000-12292000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
28	chr6:12291000-12292200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
29	chr6:12291200-12292200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:12291200-12292200	Active TSS	Brain Angular Gyrus	brain
31	chr6:12291200-12292200	Bivalent/Poised TSS	HepG2	liver
32	chr6:12291200-12292400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr6:12291200-12292600	Active TSS	Rectal Smooth Muscle	rectum
34	chr6:12291200-12293200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:12291200-12293200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
36	chr6:12291400-12292000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:12291400-12292000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr6:12291400-12292000	Bivalent Enhancer	Fetal Thymus	thymus
39	chr6:12291400-12294400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:12291600-12292000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
41	chr6:12291600-12292000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:12291600-12292000	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr6:12291600-12292000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
44	chr6:12291600-12292000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr6:12291600-12292200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:12291600-12292200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:12291600-12292200	Flanking Active TSS	NHLF	lung
48	chr6:12291600-12292400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:12291600-12292400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:12291600-12292400	Active TSS	Spleen	Spleen

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