Variant report

Variant	rs1877159
Chromosome Location	chr1:226307430-226307431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226247784..226253760-chr1:226305545..226317702,29	MCF-7	breast:
2	chr1:226295177..226301855-chr1:226303668..226313005,25	K562	blood:
3	chr1:226258835..226263842-chr1:226306097..226310860,6	K562	blood:
4	chr1:226190413..226192206-chr1:226306899..226308744,2	MCF-7	breast:
5	chr1:226292542..226298942-chr1:226306858..226311185,7	K562	blood:
6	chr1:226299228..226300786-chr1:226305720..226307494,2	K562	blood:
7	chr1:226245827..226258736-chr1:226304107..226314743,27	K562	blood:
8	chr1:226292376..226295257-chr1:226305072..226307730,3	MCF-7	breast:
9	chr1:226185452..226192151-chr1:226306236..226312570,19	K562	blood:
10	chr1:225964008..225965981-chr1:226307173..226310242,3	K562	blood:
11	chr1:226247680..226258196-chr1:226306136..226315725,36	MCF-7	breast:
12	chr1:226255554..226257081-chr1:226306856..226309481,2	MCF-7	breast:
13	chr1:226295676..226301816-chr1:226302378..226313716,36	MCF-7	breast:
14	chr1:226303513..226307082-chr1:226307356..226312783,6	K562	blood:
15	chr1:226245827..226262488-chr1:226303989..226311845,34	K562	blood:
16	chr1:226305715..226313141-chr1:226367413..226376964,17	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223570	Chromatin interaction
ENSG00000182827	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000143742	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000143751	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10753414	0.92[EUR][1000 genomes]
rs10915942	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11583604	1.00[ASN][1000 genomes]
rs11583736	1.00[ASN][1000 genomes]
rs11583805	1.00[ASN][1000 genomes]
rs11585469	1.00[ASN][1000 genomes]
rs11589277	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081020	0.89[EUR][1000 genomes]
rs1219670	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1219672	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3219134	1.00[ASN][1000 genomes]
rs41268727	1.00[ASN][1000 genomes]
rs4278344	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56170974	1.00[ASN][1000 genomes]
rs72757016	1.00[ASN][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	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats 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
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv1792510	chr1:226277560-226323824	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats 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	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226299000-226308800	Weak transcription	A549	lung
2	chr1:226299600-226308400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:226299600-226308800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:226299800-226308800	Weak transcription	Gastric	stomach
5	chr1:226299800-226309000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:226300000-226308200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:226300000-226308200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:226304000-226308000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:226304000-226308000	Weak transcription	Fetal Thymus	thymus
10	chr1:226304000-226308800	Weak transcription	HMEC	breast
11	chr1:226304000-226308800	Weak transcription	NHEK	skin
12	chr1:226304200-226308800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:226304200-226308800	Weak transcription	Esophagus	oesophagus
14	chr1:226304600-226308800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:226306000-226308800	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:226306200-226308600	Enhancers	Primary B cells from cord blood	blood
17	chr1:226306200-226309400	Weak transcription	HSMMtube	muscle
18	chr1:226306600-226307800	Enhancers	GM12878-XiMat	blood
19	chr1:226306600-226309000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:226306800-226308400	Weak transcription	K562	blood
21	chr1:226307000-226308200	Weak transcription	Spleen	Spleen
22	chr1:226307200-226308000	Enhancers	Dnd41	blood
23	chr1:226307400-226307600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:226307400-226308200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:226307400-226308200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:226307400-226308800	Enhancers	Primary T helper cells PMA-I stimulated	--

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