Variant report

Variant	rs6700310
Chromosome Location	chr1:153524433-153524434
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:153522989-153525739	K562	blood:	n/a	n/a
2	POLR2A	chr1:153517452-153526571	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153508236..153509740-chr1:153522237..153524623,2	K562	blood:
2	chr1:153522864..153527279-chr1:153528529..153531164,4	K562	blood:
3	chr1:153523096..153524724-chr1:153583909..153585635,2	MCF-7	breast:
4	chr1:153514728..153519163-chr1:153523629..153528346,5	K562	blood:
5	chr1:153522267..153525133-chr1:153537337..153540137,3	MCF-7	breast:
6	chr1:153511594..153513474-chr1:153523017..153524733,2	K562	blood:

No data

Variant related genes	Relation type
S100A4	TF binding region
S100A3	TF binding region
ENSG00000196754	Chromatin interaction
ENSG00000196154	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000188643	Chromatin interaction
ENSG00000196420	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1047325	0.88[EUR][1000 genomes]
rs1050923	0.91[EUR][1000 genomes]
rs11488669	0.88[EUR][1000 genomes]
rs16835437	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16835455	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28452456	0.91[EUR][1000 genomes]
rs28548347	0.91[EUR][1000 genomes]
rs28594230	0.88[EUR][1000 genomes]
rs28689606	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28718953	0.91[EUR][1000 genomes]
rs36022742	0.91[EUR][1000 genomes]
rs3762268	0.91[EUR][1000 genomes]
rs41265162	0.91[EUR][1000 genomes]
rs41265164	0.91[EUR][1000 genomes]
rs4595398	0.91[EUR][1000 genomes]
rs55955983	0.91[EUR][1000 genomes]
rs56043239	0.91[EUR][1000 genomes]
rs56057245	0.82[EUR][1000 genomes]
rs56089062	0.91[EUR][1000 genomes]
rs56350425	0.91[EUR][1000 genomes]
rs56838169	0.91[EUR][1000 genomes]
rs57024596	0.91[EUR][1000 genomes]
rs58056804	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58072118	0.91[EUR][1000 genomes]
rs59376279	0.91[EUR][1000 genomes]
rs60218214	0.91[EUR][1000 genomes]
rs60287468	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61265945	0.91[EUR][1000 genomes]
rs61558997	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6427301	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6671398	0.85[EUR][1000 genomes]
rs73026350	0.91[EUR][1000 genomes]
rs74115473	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74115476	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8401	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
5	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153509400-153527600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:153519400-153526000	Weak transcription	Aorta	Aorta
3	chr1:153520000-153529400	Genic enhancers	HMEC	breast
4	chr1:153521800-153525600	Weak transcription	Fetal Heart	heart
5	chr1:153521800-153526400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:153522000-153525600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:153522200-153525600	Weak transcription	Ovary	ovary
8	chr1:153522400-153525800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:153522400-153526200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:153522400-153526200	Weak transcription	Stomach Mucosa	stomach
11	chr1:153522600-153525600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:153522600-153525800	Weak transcription	Osteobl	bone
13	chr1:153522600-153526000	Weak transcription	HUVEC	blood vessel
14	chr1:153522600-153526200	Weak transcription	NH-A	brain
15	chr1:153522600-153526400	Weak transcription	Fetal Stomach	stomach
16	chr1:153522600-153526400	Weak transcription	Pancreas	Pancrea
17	chr1:153522600-153538000	Weak transcription	Colonic Mucosa	Colon
18	chr1:153522800-153524800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:153522800-153524800	Weak transcription	NHLF	lung
20	chr1:153522800-153525600	Weak transcription	Spleen	Spleen
21	chr1:153522800-153525800	Enhancers	HepG2	liver
22	chr1:153522800-153526000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:153522800-153526000	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:153522800-153526000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:153522800-153526000	Weak transcription	Right Ventricle	heart
26	chr1:153522800-153526000	Weak transcription	HSMM	muscle
27	chr1:153522800-153526000	Weak transcription	HSMMtube	muscle
28	chr1:153523000-153524800	Weak transcription	Hela-S3	cervix
29	chr1:153523000-153525000	Weak transcription	NHDF-Ad	bronchial
30	chr1:153523000-153525400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:153523000-153526200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:153523200-153524600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:153523200-153525600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:153523200-153526000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:153523200-153526000	Weak transcription	Right Atrium	heart
36	chr1:153523200-153526200	Weak transcription	Left Ventricle	heart
37	chr1:153523400-153525000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:153523400-153525600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:153523400-153525600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:153523600-153525000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:153523600-153525600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:153523600-153525600	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:153523600-153525800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:153523800-153524600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:153523800-153525400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:153523800-153526000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:153524000-153525000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:153524000-153525000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:153524000-153525000	Weak transcription	K562	blood
50	chr1:153524000-153525600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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