Variant report

Variant	rs61261171
Chromosome Location	chr1:154578874-154578875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:154578707-154582793	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:154528881..154534687-chr1:154578685..154583746,8	MCF-7	breast:
2	chr1:154549225..154551805-chr1:154575345..154579789,4	MCF-7	breast:
3	chr1:154543266..154545245-chr1:154578087..154580647,2	MCF-7	breast:
4	chr1:154574387..154584697-chr1:154596875..154603021,22	MCF-7	breast:
5	chr1:154575429..154582917-chr1:154596773..154602552,13	MCF-7	breast:
6	chr1:154573864..154581870-chr1:154594652..154602962,18	K562	blood:
7	chr1:154552368..154554542-chr1:154578229..154579744,2	K562	blood:
8	chr1:154566434..154568823-chr1:154576674..154579224,2	MCF-7	breast:

No data

Variant related genes	Relation type
ADAR	TF binding region
ENSG00000160710	Chromatin interaction
ENSG00000160714	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1304059	1.00[AMR][1000 genomes]
rs13376272	1.00[AMR][1000 genomes]
rs1395564	1.00[AMR][1000 genomes]
rs2131899	1.00[AMR][1000 genomes]
rs56716246	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
4	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154562600-154579600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:154570800-154579600	Weak transcription	Stomach Mucosa	stomach
3	chr1:154571800-154579000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr1:154572400-154579000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:154572600-154579000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:154572600-154579000	Weak transcription	Fetal Heart	heart
7	chr1:154572600-154579400	Weak transcription	Fetal Brain Male	brain
8	chr1:154573200-154579200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
9	chr1:154574200-154579200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:154574600-154579000	Weak transcription	Fetal Kidney	kidney
11	chr1:154574600-154579000	Weak transcription	NH-A	brain
12	chr1:154574600-154579200	Weak transcription	NHDF-Ad	bronchial
13	chr1:154574800-154579000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:154574800-154579000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:154574800-154579000	Weak transcription	HUVEC	blood vessel
16	chr1:154575000-154579000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:154575000-154579000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:154575000-154579000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:154575000-154579000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:154575000-154579000	Weak transcription	HSMMtube	muscle
21	chr1:154575000-154579000	Weak transcription	Osteobl	bone
22	chr1:154575000-154579200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:154575000-154579200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:154575200-154579000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:154575400-154579000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:154575400-154579000	Weak transcription	Fetal Brain Female	brain
27	chr1:154575400-154579000	Weak transcription	HMEC	breast
28	chr1:154575400-154579600	Weak transcription	Aorta	Aorta
29	chr1:154575600-154579000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:154575600-154579000	Genic enhancers	Fetal Muscle Leg	muscle
31	chr1:154575800-154579000	Genic enhancers	Fetal Thymus	thymus
32	chr1:154575800-154579000	Weak transcription	HSMM	muscle
33	chr1:154575800-154579600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:154575800-154579800	Weak transcription	Esophagus	oesophagus
35	chr1:154576000-154579600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr1:154576000-154579600	Weak transcription	K562	blood
37	chr1:154576200-154579000	Weak transcription	NHLF	lung
38	chr1:154576400-154579200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:154576400-154579600	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr1:154576400-154579800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:154576600-154579000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:154576600-154579000	Enhancers	Liver	Liver
43	chr1:154576800-154579000	Genic enhancers	Dnd41	blood
44	chr1:154576800-154579600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:154577000-154579000	Weak transcription	Placenta	Placenta
46	chr1:154577200-154579000	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr1:154577200-154579200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr1:154577200-154579200	Enhancers	Spleen	Spleen
49	chr1:154577400-154579000	Enhancers	Adipose Nuclei	Adipose
50	chr1:154577400-154579000	Enhancers	Colon Smooth Muscle	Colon

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