Variant report

Variant	rs62623455
Chromosome Location	chr1:197073175-197073176
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197071674..197075370-chr1:197103633..197105995,3	K562	blood:
2	chr1:196988548..196990975-chr1:197072466..197074203,2	K562	blood:
3	chr1:197055911..197057601-chr1:197071905..197074191,2	K562	blood:

Variant related genes	Relation type
ENSG00000066279	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17514507	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17514528	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17514535	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17514669	1.00[AMR][1000 genomes]
rs17514676	1.00[AMR][1000 genomes]
rs17514760	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17514851	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17549561	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17549589	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17549664	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17549866	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2039639	0.85[AFR][1000 genomes]
rs35203521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56859250	1.00[AMR][1000 genomes]
rs62624965	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873065	chr1:197027749-197076194	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv873068	chr1:197046782-197076194	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
7	nsv873069	chr1:197055925-197109042	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197052200-197074400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:197052200-197076200	Weak transcription	NHLF	lung
3	chr1:197052200-197083600	Weak transcription	Fetal Stomach	stomach
4	chr1:197052200-197106600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:197052200-197114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:197054200-197113600	Weak transcription	Fetal Kidney	kidney
7	chr1:197055000-197114200	Weak transcription	Primary B cells from cord blood	blood
8	chr1:197055600-197074000	Weak transcription	Placenta	Placenta
9	chr1:197057200-197073200	Weak transcription	NHEK	skin
10	chr1:197060000-197073800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:197061200-197073200	Weak transcription	HepG2	liver
12	chr1:197063000-197073200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:197066600-197083600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:197067000-197092200	Weak transcription	Fetal Intestine Large	intestine
15	chr1:197069600-197073600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr1:197070200-197076400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr1:197070400-197074000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr1:197070600-197073400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr1:197070600-197076200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr1:197070600-197100000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:197070800-197075200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr1:197070800-197075400	ZNF genes & repeats	K562	blood
23	chr1:197070800-197078000	Strong transcription	Fetal Thymus	thymus
24	chr1:197070800-197085400	Weak transcription	Osteobl	bone
25	chr1:197071000-197074000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:197071000-197074400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
27	chr1:197071000-197084400	Weak transcription	Fetal Heart	heart
28	chr1:197071000-197105400	Strong transcription	Dnd41	blood
29	chr1:197071200-197073200	Weak transcription	Brain Anterior Caudate	brain
30	chr1:197071200-197074200	Active TSS	Brain Germinal Matrix	brain
31	chr1:197071200-197077400	Strong transcription	Fetal Lung	lung
32	chr1:197071400-197095800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:197071600-197074200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:197071600-197077800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:197071800-197073800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:197071800-197074000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:197071800-197074200	Active TSS	Fetal Brain Female	brain
38	chr1:197071800-197074400	Strong transcription	HSMM	muscle
39	chr1:197071800-197104600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:197072000-197073400	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr1:197072000-197074000	Active TSS	Fetal Brain Male	brain
42	chr1:197072000-197074200	Strong transcription	NHDF-Ad	bronchial
43	chr1:197072000-197076400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:197072200-197074200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:197072400-197073200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:197072400-197073400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
47	chr1:197072400-197073400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:197072400-197073600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:197072400-197073800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:197072400-197073800	Strong transcription	Fetal Muscle Trunk	muscle

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