Variant report

Variant	rs2070679
Chromosome Location	chr1:155210641-155210642
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155210469-155211222	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:155210290-155211218	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:155210214-155211247	Hela-S3	cervix:	n/a	n/a
4	USF1	chr1:155210559-155211382	A549	lung:	n/a	chr1:155211054-155211075
5	USF1	chr1:155210582-155211390	A549	lung:	n/a	chr1:155211054-155211075
6	POLR2A	chr1:155210628-155211230	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr1:155210627-155210678	ProgFib	skin:	n/a	n/a
8	POLR2A	chr1:155210570-155210684	Hela-S3	cervix:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155209377..155211075-chr1:155231660..155233982,2	MCF-7	breast:
2	chr1:155209905..155211567-chr1:155291991..155294697,2	K562	blood:
3	chr1:155210207..155211789-chr1:155219850..155221900,2	K562	blood:
4	chr1:155161998..155164147-chr1:155209813..155212664,2	K562	blood:
5	chr1:155176876..155179171-chr1:155209871..155213021,3	K562	blood:
6	chr1:155187157..155191331-chr1:155209670..155212928,5	MCF-7	breast:
7	chr1:155174858..155180302-chr1:155209102..155215747,8	MCF-7	breast:
8	chr1:155176431..155180791-chr1:155209413..155214573,7	MCF-7	breast:
9	chr1:155209727..155212678-chr1:155212773..155217086,5	K562	blood:
10	chr1:154973468..154975172-chr1:155209592..155212426,2	MCF-7	breast:
11	chr1:155183199..155186042-chr1:155209567..155212010,2	K562	blood:
12	chr1:155176699..155181010-chr1:155210436..155216018,7	K562	blood:
13	chr1:155210404..155213133-chr1:155222950..155225276,2	MCF-7	breast:
14	chr1:155209487..155212728-chr1:155212760..155217156,9	MCF-7	breast:
15	chr1:155195600..155203152-chr1:155209955..155216515,9	MCF-7	breast:
16	chr1:155210200..155211789-chr1:155219850..155222070,2	K562	blood:
17	chr1:155180006..155181850-chr1:155210122..155211895,2	K562	blood:
18	chr1:155161998..155167332-chr1:155208163..155212538,6	K562	blood:
19	chr1:155195406..155199356-chr1:155210414..155216260,10	K562	blood:
20	chr1:155207800..155212678-chr1:155214121..155217855,6	K562	blood:
21	chr1:155209079..155212795-chr1:155212935..155216540,4	MCF-7	breast:
22	chr1:155196978..155198560-chr1:155209319..155211586,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000216109	TF binding region
GBA	TF binding region
ENSG00000225855	Chromatin interaction
ENSG00000185499	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000160767	Chromatin interaction
ENSG00000116521	Chromatin interaction
ENSG00000231064	Chromatin interaction
ENSG00000169231	Chromatin interaction
ENSG00000236675	Chromatin interaction
ENSG00000173171	Chromatin interaction
ENSG00000177628	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000271748	Chromatin interaction
ENSG00000236263	Chromatin interaction
ENSG00000160685	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11465203	1.00[AMR][1000 genomes]
rs16836586	1.00[AMR][1000 genomes]
rs59650797	1.00[AMR][1000 genomes]
rs6672663	1.00[AMR][1000 genomes]
rs6683147	1.00[AMR][1000 genomes]
rs6683706	1.00[AMR][1000 genomes]
rs6690002	1.00[AMR][1000 genomes]
rs7527209	1.00[AMR][1000 genomes]
rs7529556	1.00[AMR][1000 genomes]
rs7531890	1.00[AMR][1000 genomes]
rs7536194	1.00[AMR][1000 genomes]
rs7554397	1.00[AMR][1000 genomes]
rs8177979	1.00[AMR][1000 genomes]
rs8177997	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription 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 miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
4	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
5	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
6	nsv470741	chr1:155115260-155230131	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
7	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
8	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	407 gene(s)	inside rSNPs	diseases
9	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
10	nsv870053	chr1:155180349-155212316	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
11	esv13606	chr1:155180489-155221243	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	nsv1008748	chr1:155189148-155230610	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
13	nsv1011773	chr1:155189148-155234821	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
14	esv1793876	chr1:155194112-155212255	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
15	nsv8480	chr1:155206335-155214536	Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
16	nsv947198	chr1:155206997-155226440	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155197200-155212800	Weak transcription	Small Intestine	intestine
2	chr1:155198000-155210800	Weak transcription	Fetal Kidney	kidney
3	chr1:155198200-155210800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:155198200-155210800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:155206400-155210800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:155206800-155211200	Weak transcription	Aorta	Aorta
7	chr1:155207000-155210800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:155208000-155213000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:155209600-155210800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:155209600-155210800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:155209600-155210800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:155209600-155210800	Enhancers	Fetal Brain Male	brain
13	chr1:155209800-155210800	Enhancers	Primary hematopoietic stem cells	blood
14	chr1:155209800-155211000	Active TSS	Esophagus	oesophagus
15	chr1:155209800-155211400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:155209800-155211800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:155209800-155212000	Enhancers	Pancreas	Pancrea
18	chr1:155209800-155212000	Flanking Active TSS	Dnd41	blood
19	chr1:155210000-155210800	Enhancers	Spleen	Spleen
20	chr1:155210000-155211200	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr1:155210000-155211200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:155210000-155211200	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr1:155210000-155213400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:155210200-155210800	Enhancers	Brain Germinal Matrix	brain
25	chr1:155210200-155210800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:155210200-155210800	Enhancers	Fetal Lung	lung
27	chr1:155210200-155211000	Enhancers	Lung	lung
28	chr1:155210200-155211200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:155210200-155211200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:155210200-155211200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:155210200-155211200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:155210200-155211400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:155210200-155211400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:155210200-155212200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr1:155210400-155210800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:155210400-155210800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:155210400-155210800	Enhancers	Liver	Liver
38	chr1:155210400-155210800	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr1:155210400-155210800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr1:155210400-155210800	Enhancers	Fetal Muscle Leg	muscle
41	chr1:155210400-155210800	Flanking Active TSS	Hela-S3	cervix
42	chr1:155210400-155210800	Enhancers	NH-A	brain
43	chr1:155210400-155210800	Enhancers	NHEK	skin
44	chr1:155210400-155211000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:155210400-155211000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr1:155210400-155211200	Active TSS	H1 Cell Line	embryonic stem cell
47	chr1:155210400-155211200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:155210400-155211200	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr1:155210400-155211200	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr1:155210400-155211200	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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