Variant report

Variant	rs2501605
Chromosome Location	chr1:179865470-179865471
allele	A/C
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:8)
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	POLR2A	chr1:179865448-179865555	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:179864333..179868046-chr1:179868350..179872629,6	K562	blood:
2	chr1:179849812..179857746-chr1:179862462..179868266,11	K562	blood:
3	chr1:179863570..179865486-chr1:179874016..179875543,2	MCF-7	breast:
4	chr1:179850982..179852803-chr1:179864319..179866241,2	MCF-7	breast:
5	chr1:179862982..179865680-chr1:179892718..179895012,2	MCF-7	breast:
6	chr1:179864493..179866934-chr1:180134864..180137550,2	MCF-7	breast:
7	chr1:179864635..179867471-chr1:179879505..179882177,2	K562	blood:
8	chr1:179864202..179867093-chr1:179867105..179870142,3	K562	blood:

No data

Variant related genes	Relation type
RN7SL230P	TF binding region
ENSG00000264916	Chromatin interaction
ENSG00000272906	Chromatin interaction
ENSG00000143337	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs476280	0.87[AFR][1000 genomes]
rs524166	0.88[AFR][1000 genomes]
rs555755	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs576723	0.88[AFR][1000 genomes]
rs627897	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv429947	chr1:179790518-179925104	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv1815608	chr1:179813499-180067988	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers 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 target site	48 gene(s)	inside rSNPs	diseases
4	nsv429958	chr1:179814306-179994628	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179852800-179871200	Weak transcription	Spleen	Spleen
2	chr1:179853000-179884800	Weak transcription	Esophagus	oesophagus
3	chr1:179853000-179890400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:179853200-179886600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:179853200-179890800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:179853400-179872600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:179853400-179877000	Weak transcription	Right Ventricle	heart
8	chr1:179853400-179878200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:179853400-179882800	Weak transcription	Fetal Brain Male	brain
10	chr1:179854000-179865600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:179854000-179886800	Weak transcription	Fetal Heart	heart
12	chr1:179854200-179866600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:179854200-179871800	Weak transcription	Brain Germinal Matrix	brain
14	chr1:179855600-179871600	Weak transcription	A549	lung
15	chr1:179856000-179866000	Strong transcription	Liver	Liver
16	chr1:179856200-179876800	Weak transcription	NHLF	lung
17	chr1:179857600-179866600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:179857600-179867400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:179857600-179870000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:179857600-179871600	Weak transcription	HSMM	muscle
21	chr1:179857600-179886800	Weak transcription	Psoas Muscle	Psoas
22	chr1:179858000-179866600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr1:179858200-179866000	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:179858200-179866000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:179858200-179867200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr1:179858400-179865800	Strong transcription	Fetal Muscle Trunk	muscle
27	chr1:179858600-179865800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:179858600-179866000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:179858800-179865800	Strong transcription	Fetal Intestine Small	intestine
30	chr1:179858800-179865800	Strong transcription	Fetal Stomach	stomach
31	chr1:179858800-179866000	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:179860000-179869800	Weak transcription	Hela-S3	cervix
33	chr1:179860000-179873800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:179860200-179890200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:179860400-179871600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:179860400-179873000	Weak transcription	HUVEC	blood vessel
37	chr1:179860400-179873200	Weak transcription	K562	blood
38	chr1:179860400-179878800	Weak transcription	Colonic Mucosa	Colon
39	chr1:179860600-179869400	Weak transcription	HMEC	breast
40	chr1:179860600-179871600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr1:179861000-179871400	Weak transcription	NHEK	skin
42	chr1:179861000-179871600	Weak transcription	Brain Substantia Nigra	brain
43	chr1:179861200-179866800	Weak transcription	Small Intestine	intestine
44	chr1:179861200-179868400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:179861200-179869600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:179861200-179870000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:179861200-179870800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:179861200-179871400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:179861200-179878000	Weak transcription	Gastric	stomach
50	chr1:179861200-179886600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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