Variant report

Variant	rs56161739
Chromosome Location	chr1:113481741-113481742
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113476476..113482692-chr1:113494893..113501777,18	K562	blood:
2	chr1:113479987..113483346-chr1:113484280..113487359,6	K562	blood:
3	chr1:113479847..113481984-chr1:113483507..113487359,6	K562	blood:

Variant related genes	Relation type
ENSG00000226419	Chromatin interaction
ENSG00000155380	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3849175	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57878960	1.00[AMR][1000 genomes]
rs7512840	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
11	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
12	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
13	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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 target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113458000-113490600	Weak transcription	Right Atrium	heart
2	chr1:113466400-113496400	Weak transcription	Primary T cells from cord blood	blood
3	chr1:113467000-113482000	Weak transcription	Aorta	Aorta
4	chr1:113467000-113482800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:113467000-113493200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:113467000-113495600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:113467000-113497400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:113467200-113496400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:113468000-113496200	Weak transcription	Fetal Brain Female	brain
10	chr1:113468200-113495400	Weak transcription	Psoas Muscle	Psoas
11	chr1:113469800-113495600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:113469800-113495600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:113469800-113497000	Weak transcription	Fetal Stomach	stomach
14	chr1:113471800-113493600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:113472000-113484000	Weak transcription	Left Ventricle	heart
16	chr1:113473000-113495000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:113473000-113495400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:113478400-113483400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:113478600-113484200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:113478800-113483000	Enhancers	Fetal Heart	heart
21	chr1:113478800-113493200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:113480800-113481800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:113480800-113484200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:113481000-113481800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:113481000-113482000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr1:113481000-113482000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:113481000-113482000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:113481000-113485200	Weak transcription	NH-A	brain
29	chr1:113481000-113493000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:113481000-113493000	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:113481000-113495600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:113481000-113495600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:113481000-113496200	Weak transcription	Brain Angular Gyrus	brain
34	chr1:113481000-113496200	Weak transcription	Fetal Intestine Small	intestine
35	chr1:113481000-113496400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:113481200-113481800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:113481200-113483000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:113481200-113484400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:113481200-113484800	Weak transcription	Dnd41	blood
40	chr1:113481200-113485200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:113481200-113485200	Weak transcription	HSMM	muscle
42	chr1:113481200-113485400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:113481200-113485800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:113481200-113486400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:113481200-113486800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:113481200-113487200	Weak transcription	Ovary	ovary
47	chr1:113481200-113489800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:113481200-113492800	Weak transcription	HepG2	liver
49	chr1:113481200-113493200	Weak transcription	Right Ventricle	heart
50	chr1:113481200-113493800	Weak transcription	HUVEC	blood vessel

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