Variant report

Variant	rs431441
Chromosome Location	chr1:120174017-120174018
allele	C/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:120170976..120174550-chr1:120185288..120189163,4	MCF-7	breast:
2	chr1:120165887..120168379-chr1:120172138..120174819,2	MCF-7	breast:
3	chr1:120171369..120174303-chr1:120214777..120217221,2	K562	blood:
4	chr1:120169996..120174289-chr1:120174706..120179786,6	MCF-7	breast:
5	chr1:120173306..120174926-chr1:120188147..120191050,2	MCF-7	breast:
6	chr1:120171560..120174135-chr1:120188419..120190372,2	K562	blood:
7	chr1:120162086..120165079-chr1:120173514..120175556,2	MCF-7	breast:
8	chr1:120172872..120175188-chr1:120180401..120183308,2	MCF-7	breast:
9	chr1:120174001..120176369-chr1:120189431..120193664,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143067	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs347904	0.84[CEU][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7531516	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs838985	0.85[ASN][1000 genomes]
rs838986	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs838987	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS 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	38 gene(s)	inside rSNPs	diseases
5	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120162200-120174400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:120162200-120174600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:120163600-120188400	Weak transcription	Hela-S3	cervix
4	chr1:120165800-120189600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:120168400-120174800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:120168400-120187000	Weak transcription	K562	blood
7	chr1:120168800-120174600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:120168800-120175800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:120169000-120174400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:120169000-120174600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:120169000-120174600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:120169000-120178400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:120169200-120174800	Enhancers	Fetal Lung	lung
14	chr1:120169400-120174400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:120169400-120178400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:120169400-120184400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:120172800-120174200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:120172800-120177400	Enhancers	Fetal Kidney	kidney
19	chr1:120173200-120175000	Enhancers	Small Intestine	intestine
20	chr1:120173200-120175400	Enhancers	Placenta	Placenta
21	chr1:120173400-120175400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:120173400-120175400	Enhancers	Lung	lung
23	chr1:120173600-120174200	Flanking Active TSS	Liver	Liver
24	chr1:120173600-120174400	Active TSS	Rectal Smooth Muscle	rectum
25	chr1:120173600-120174600	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr1:120173600-120174600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr1:120173600-120174800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:120173600-120174800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:120173600-120174800	Enhancers	Fetal Brain Male	brain
30	chr1:120173600-120175000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:120173600-120175200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:120173600-120175200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr1:120173600-120175200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr1:120173600-120175400	Enhancers	Spleen	Spleen
35	chr1:120173600-120175600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:120173600-120175600	Enhancers	HMEC	breast
37	chr1:120173800-120174200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:120173800-120174200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr1:120173800-120174200	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr1:120173800-120174200	Enhancers	Fetal Brain Female	brain
41	chr1:120173800-120174200	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr1:120173800-120174200	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr1:120173800-120174200	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr1:120173800-120174200	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr1:120173800-120174200	Flanking Active TSS	Left Ventricle	heart
46	chr1:120173800-120174200	Flanking Active TSS	Right Ventricle	heart
47	chr1:120173800-120174200	Flanking Active TSS	NHLF	lung
48	chr1:120173800-120174200	Flanking Active TSS	Osteobl	bone
49	chr1:120173800-120174400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:120173800-120174400	Active TSS	Aorta	Aorta

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