Variant report

Variant	rs35192494
Chromosome Location	chr2:114461742-114461743
allele	G/T
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	HEY1	chr2:114461454-114461772	K562	blood:	n/a	n/a
2	HEY1	chr2:114461503-114461744	K562	blood:	n/a	n/a
3	REST	chr2:114461638-114461854	HL-60	blood:	n/a	n/a
4	POLR2A	chr2:114461216-114461963	HL-60	blood:	n/a	n/a
5	POLR2A	chr2:114460889-114461977	HL-60	blood:	n/a	n/a
6	POLR2A	chr2:114461446-114461806	HepG2	liver:	n/a	n/a
7	NFYB	chr2:114461634-114461932	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000227359	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1062074	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12711781	0.80[EUR][1000 genomes]
rs12998926	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409879	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13416738	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17633451	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28392566	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34004564	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34222823	1.00[ASN][1000 genomes]
rs35049717	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55878739	1.00[ASN][1000 genomes]
rs56316177	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72833665	1.00[ASN][1000 genomes]
rs72835446	1.00[ASN][1000 genomes]
rs998151	1.00[AMR][1000 genomes];0.82[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	nsv1001195	chr2:114362003-114506330	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv979109	chr2:114429638-114495192	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv979339	chr2:114430138-114495192	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114451600-114461800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:114451600-114462400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:114452400-114470200	Weak transcription	Primary T cells from cord blood	blood
4	chr2:114452600-114469400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:114453000-114470400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:114455000-114470400	Weak transcription	NHEK	skin
7	chr2:114455400-114472200	Weak transcription	HMEC	breast
8	chr2:114455600-114470400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:114455800-114462400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:114455800-114470400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:114458000-114466400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:114458000-114466600	Weak transcription	Primary B cells from cord blood	blood
13	chr2:114458000-114470400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:114458000-114472000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:114458200-114462200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:114458200-114462400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:114458200-114466600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:114458200-114469600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr2:114458200-114469600	Weak transcription	Adipose Nuclei	Adipose
20	chr2:114458200-114470200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:114458200-114470200	Weak transcription	GM12878-XiMat	blood
22	chr2:114458200-114470400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:114458200-114470400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:114458200-114470400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:114458200-114486200	Weak transcription	Dnd41	blood
26	chr2:114458200-114512600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:114458400-114462000	Weak transcription	Right Ventricle	heart
28	chr2:114458400-114462400	Weak transcription	Aorta	Aorta
29	chr2:114458400-114463400	Weak transcription	Spleen	Spleen
30	chr2:114458400-114463600	Weak transcription	Left Ventricle	heart
31	chr2:114458400-114467200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:114458400-114469400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:114458400-114469400	Weak transcription	Placenta	Placenta
34	chr2:114458400-114469400	Weak transcription	K562	blood
35	chr2:114458400-114470200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr2:114458400-114470400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:114458400-114470400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:114458400-114470400	Weak transcription	Fetal Thymus	thymus
39	chr2:114458400-114471800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:114458400-114475000	Weak transcription	Thymus	Thymus
41	chr2:114458400-114484200	Weak transcription	Pancreas	Pancrea
42	chr2:114458400-114497200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr2:114458400-114500000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:114458800-114462000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:114458800-114469000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:114459600-114463800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:114459800-114462400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:114459800-114462400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:114460000-114462400	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:114460000-114470200	Weak transcription	Fetal Muscle Trunk	muscle

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