Variant report

Variant	rs35065691
Chromosome Location	chr1:154300629-154300630
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:154300620-154300770	GM12872	blood:	n/a	n/a
2	POLR2A	chr1:154299998-154301532	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAZ	chr1:154300552-154302051	IMR90	lung:	n/a	chr1:154300858-154300867 chr1:154301010-154301020 chr1:154301171-154301181
4	EBF1	chr1:154300621-154300630	GM12878	blood:	n/a	n/a
5	MXI1	chr1:154300486-154301580	IMR90	lung:	n/a	n/a
6	POLR2A	chr1:154300398-154300726	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr1:154300331-154302264	H1-hESC	embryonic stem cell:	n/a	chr1:154301063-154301074 chr1:154301995-154302003 chr1:154301563-154301572
8	POLR2A	chr1:154299753-154301219	SK-N-MC	brain:	n/a	n/a
9	MXI1	chr1:154300186-154301579	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr1:154300539-154300676	GM19238	blood:	n/a	n/a
11	EGR1	chr1:154300591-154301525	HCT-116	colon:	n/a	chr1:154301095-154301108 chr1:154301014-154301023 chr1:154301172-154301185 chr1:154301084-154301098 chr1:154301172-154301185 chr1:154301172-154301186 chr1:154301175-154301185 chr1:154301171-154301186 chr1:154301175-154301184 chr1:154301172-154301185 chr1:154301172-154301185 chr1:154301100-154301110 chr1:154301121-154301135
12	GATA1	chr1:154300479-154301184	PBDE	blood:	n/a	chr1:154300828-154300837 chr1:154300883-154300890 chr1:154300884-154300901 chr1:154300883-154300890 chr1:154300883-154300890

No.	Distal block	Cell Line	Cell type
1	chr1:154300262..154302109-chr1:154529497..154531413,2	MCF-7	breast:
2	chr1:154297523..154301046-chr1:154302603..154305255,3	K562	blood:
3	chr1:154299639..154302456-chr1:154376264..154378731,2	MCF-7	breast:
4	chr1:154299993..154302409-chr1:154316868..154319767,3	K562	blood:
5	chr1:153750360..153753016-chr1:154300040..154302261,2	K562	blood:
6	chr1:153751284..153753016-chr1:154300040..154302353,2	K562	blood:
7	chr1:154299527..154302035-chr1:154376161..154379116,2	MCF-7	breast:
8	chr1:154244396..154246200-chr1:154300299..154302808,2	MCF-7	breast:

Variant related genes	Relation type
ATP8B2	TF binding region
ENSG00000160714	Chromatin interaction
ENSG00000143515	Chromatin interaction
ENSG00000143575	Chromatin interaction
ENSG00000228013	Chromatin interaction
ENSG00000143554	Chromatin interaction
ENSG00000160712	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57865781	1.00[AMR][1000 genomes]
rs73020693	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	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
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	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
8	nsv523934	chr1:154296076-154307630	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154298200-154301600	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr1:154298400-154300800	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr1:154298400-154300800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:154298400-154301000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr1:154298400-154301000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr1:154298400-154301000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr1:154298400-154301000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:154298400-154301800	Flanking Active TSS	Dnd41	blood
9	chr1:154298400-154302000	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr1:154298400-154302200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:154298600-154300800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr1:154298600-154300800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr1:154298600-154300800	Enhancers	Spleen	Spleen
14	chr1:154298600-154301000	Flanking Active TSS	Fetal Brain Female	brain
15	chr1:154298600-154301000	Flanking Active TSS	Thymus	Thymus
16	chr1:154298600-154302000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:154298800-154300800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr1:154298800-154300800	Enhancers	HMEC	breast
19	chr1:154298800-154301000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr1:154298800-154301800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr1:154299000-154300800	Enhancers	Small Intestine	intestine
22	chr1:154299000-154301000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:154299000-154301000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:154299000-154301000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:154299000-154301200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr1:154299000-154302000	Bivalent Enhancer	Placenta	Placenta
27	chr1:154299200-154300800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
28	chr1:154299200-154301800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:154299400-154300800	Enhancers	Gastric	stomach
30	chr1:154299400-154301000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:154299800-154300800	Weak transcription	Aorta	Aorta
32	chr1:154299800-154301800	Weak transcription	A549	lung
33	chr1:154300000-154300800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:154300000-154300800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:154300000-154300800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr1:154300000-154301000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:154300000-154301000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:154300000-154301000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:154300000-154301000	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr1:154300000-154301000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
41	chr1:154300000-154301000	Flanking Active TSS	GM12878-XiMat	blood
42	chr1:154300000-154301000	Flanking Active TSS	NHDF-Ad	bronchial
43	chr1:154300000-154301200	Flanking Active TSS	Fetal Thymus	thymus
44	chr1:154300000-154301600	Weak transcription	K562	blood
45	chr1:154300200-154300800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr1:154300200-154300800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr1:154300200-154300800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr1:154300200-154300800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr1:154300200-154300800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr1:154300200-154300800	Flanking Active TSS	Rectal Smooth Muscle	rectum

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