Variant report

Variant	rs4907193
Chromosome Location	chr1:84548188-84548189
allele	A/G
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:5)
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	KAP1	chr1:84547934-84548548	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:84547425..84549381-chr1:84569524..84571663,2	K562	blood:
2	chr1:84541598..84548799-chr1:84549003..84554628,15	K562	blood:
3	chr1:84539639..84541968-chr1:84547734..84550751,3	K562	blood:
4	chr1:84547756..84549761-chr1:84565111..84567613,2	K562	blood:
5	chr1:84546484..84549256-chr1:84565111..84567143,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213540	TF binding region
ENSG00000271576	TF binding region
ENSG00000213540	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1021491	0.88[AMR][1000 genomes]
rs10782822	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11163897	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2250806	0.85[AMR][1000 genomes]
rs2792973	0.87[AMR][1000 genomes]
rs2792975	0.87[AMR][1000 genomes]
rs2792976	0.85[AMR][1000 genomes]
rs6674038	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6701486	0.88[AMR][1000 genomes]
rs6703653	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7520283	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs957828	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871655	chr1:84517261-84550849	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84544600-84551400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:84544600-84551400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:84544600-84556200	Weak transcription	Pancreas	Pancrea
4	chr1:84544600-84557200	Weak transcription	Gastric	stomach
5	chr1:84544800-84551600	Weak transcription	Left Ventricle	heart
6	chr1:84544800-84551800	Weak transcription	Spleen	Spleen
7	chr1:84544800-84556000	Weak transcription	Primary T cells from cord blood	blood
8	chr1:84544800-84556200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:84545000-84548400	Weak transcription	Brain Angular Gyrus	brain
10	chr1:84545000-84548800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:84545000-84549000	Weak transcription	Brain Anterior Caudate	brain
12	chr1:84545000-84551400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:84545000-84551400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:84545000-84551400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:84545000-84551400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:84545000-84551400	Weak transcription	Fetal Stomach	stomach
17	chr1:84545000-84551600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:84545000-84551600	Weak transcription	Aorta	Aorta
19	chr1:84545000-84551600	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:84545000-84551800	Weak transcription	Right Ventricle	heart
21	chr1:84545000-84553400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:84545000-84554200	Weak transcription	HSMM	muscle
23	chr1:84545000-84554400	Weak transcription	A549	lung
24	chr1:84545000-84554600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:84545000-84554800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:84545000-84554800	Weak transcription	HSMMtube	muscle
27	chr1:84545000-84556200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:84545000-84557200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:84545000-84558800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:84545000-84560600	Weak transcription	Fetal Lung	lung
31	chr1:84545000-84561200	Weak transcription	Ovary	ovary
32	chr1:84545000-84566800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:84545000-84570000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:84545200-84548400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:84545200-84548800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:84545200-84549000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:84545200-84549600	Weak transcription	K562	blood
38	chr1:84545200-84551400	Weak transcription	Fetal Intestine Large	intestine
39	chr1:84545200-84551600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:84545200-84554600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:84545200-84554800	Weak transcription	NHEK	skin
42	chr1:84545200-84555400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:84545200-84568600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:84545400-84551600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:84545400-84556000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:84545400-84560800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:84545800-84548200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:84545800-84552800	Weak transcription	Brain Germinal Matrix	brain
49	chr1:84545800-84553600	Weak transcription	Fetal Heart	heart
50	chr1:84545800-84568600	Weak transcription	Stomach Smooth Muscle	stomach

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