Variant report

Variant	rs2735595
Chromosome Location	chr1:85738585-85738586
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:85738169-85740047	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr1:85737298-85738796	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:85738322-85739722	A549	lung:	n/a	n/a
4	POLR2A	chr1:85738277-85742976	IMR90	lung:	n/a	n/a
5	POLR2A	chr1:85738320-85740116	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:85731137..85733599-chr1:85736126..85739884,4	MCF-7	breast:
2	chr1:85723639..85725384-chr1:85737240..85739229,2	MCF-7	breast:
3	chr1:85726071..85727906-chr1:85736264..85738614,2	K562	blood:

Variant related genes	Relation type
ENSG00000223653	TF binding region
ENSG00000162642	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11161563	0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs11161566	0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11161569	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11161572	0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs11370	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12025860	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12025898	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12036224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12039980	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12133263	0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs12143319	1.00[CEU][hapmap];0.92[JPT][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3768234	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3768235	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription 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 miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85725400-85741000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:85725800-85739400	Weak transcription	Aorta	Aorta
3	chr1:85726000-85741000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:85726000-85741400	Weak transcription	Gastric	stomach
5	chr1:85726200-85739800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:85727200-85741400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:85728200-85739400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:85728600-85738800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:85728600-85739600	Strong transcription	Fetal Muscle Trunk	muscle
10	chr1:85728600-85739600	Strong transcription	HSMM	muscle
11	chr1:85728800-85739000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:85728800-85739000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:85728800-85739600	Strong transcription	Primary hematopoietic stem cells	blood
14	chr1:85729000-85739200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:85729200-85738800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr1:85729200-85739400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:85729200-85739600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:85729400-85739200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr1:85729600-85739000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:85729800-85739200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:85729800-85739400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:85730000-85739000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:85730000-85739000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:85730000-85739200	Strong transcription	HMEC	breast
25	chr1:85730200-85739200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:85730400-85739600	Weak transcription	Stomach Mucosa	stomach
27	chr1:85730600-85739200	Strong transcription	NH-A	brain
28	chr1:85730800-85739000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:85731000-85739200	Strong transcription	Hela-S3	cervix
30	chr1:85731200-85738600	Strong transcription	Osteobl	bone
31	chr1:85731200-85738800	Strong transcription	NHDF-Ad	bronchial
32	chr1:85731800-85739000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:85732000-85738600	Strong transcription	NHEK	skin
34	chr1:85732000-85739000	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr1:85732200-85738800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:85732600-85741000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:85732800-85739800	Strong transcription	K562	blood
38	chr1:85733400-85739000	Strong transcription	Primary T cells from cord blood	blood
39	chr1:85734200-85739000	Genic enhancers	Fetal Intestine Large	intestine
40	chr1:85734800-85740200	Weak transcription	Right Atrium	heart
41	chr1:85735000-85741400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:85735000-85741400	Weak transcription	Pancreas	Pancrea
43	chr1:85735400-85739000	Genic enhancers	Duodenum Mucosa	Duodenum
44	chr1:85735400-85740600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:85735600-85738800	Weak transcription	Psoas Muscle	Psoas
46	chr1:85735600-85739800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:85735600-85740000	Weak transcription	Brain Angular Gyrus	brain
48	chr1:85735600-85740000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:85735600-85740400	Weak transcription	A549	lung
50	chr1:85735600-85741400	Weak transcription	Lung	lung

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