Variant report

Variant	rs36116171
Chromosome Location	chr1:85739161-85739162
allele	A/G
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	MAFK	chr1:85739118-85739433	HepG2	liver:	n/a	chr1:85739270-85739285
3	MAFF	chr1:85739101-85739447	K562	blood:	n/a	chr1:85739268-85739286
4	MAFK	chr1:85739123-85739444	IMR90	lung:	n/a	chr1:85739270-85739285
5	MAFF	chr1:85739107-85739430	HepG2	liver:	n/a	chr1:85739268-85739286
6	MAFK	chr1:85739129-85739396	Hela-S3	cervix:	n/a	chr1:85739270-85739285
7	MAFK	chr1:85739098-85739460	HepG2	liver:	n/a	chr1:85739270-85739285
8	POLR2A	chr1:85738322-85739722	A549	lung:	n/a	n/a
9	POLR2A	chr1:85738277-85742976	IMR90	lung:	n/a	n/a
10	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	chr1:85723140..85725993-chr1:85738626..85740807,2	MCF-7	breast:
3	chr1:85723214..85729954-chr1:85738689..85743771,11	K562	blood:
4	chr1:85723639..85725384-chr1:85737240..85739229,2	MCF-7	breast:

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

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1060843	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11161564	0.96[ASN][1000 genomes]
rs11161581	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161583	0.96[ASN][1000 genomes]
rs12065528	0.95[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12066982	0.95[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12068389	0.93[ASN][1000 genomes]
rs12068788	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12084232	0.95[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12086970	0.93[ASN][1000 genomes]
rs12087340	0.93[ASN][1000 genomes]
rs12563515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12726649	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12743302	0.96[ASN][1000 genomes]
rs12744565	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12746169	0.92[ASN][1000 genomes]
rs17124345	0.96[ASN][1000 genomes]
rs35486093	0.96[ASN][1000 genomes]
rs35783363	0.93[ASN][1000 genomes]
rs35798604	0.96[ASN][1000 genomes]
rs4074156	0.94[ASN][1000 genomes]
rs4258258	0.96[ASN][1000 genomes]
rs6693229	0.93[ASN][1000 genomes]
rs9887811	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9887812	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9887879	0.90[AFR][1000 genomes];0.96[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	chr1:85728600-85739600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr1:85728600-85739600	Strong transcription	HSMM	muscle
10	chr1:85728800-85739600	Strong transcription	Primary hematopoietic stem cells	blood
11	chr1:85729000-85739200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:85729200-85739400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:85729200-85739600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:85729400-85739200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:85729800-85739200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:85729800-85739400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:85730000-85739200	Strong transcription	HMEC	breast
18	chr1:85730200-85739200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:85730400-85739600	Weak transcription	Stomach Mucosa	stomach
20	chr1:85730600-85739200	Strong transcription	NH-A	brain
21	chr1:85731000-85739200	Strong transcription	Hela-S3	cervix
22	chr1:85732600-85741000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:85732800-85739800	Strong transcription	K562	blood
24	chr1:85734800-85740200	Weak transcription	Right Atrium	heart
25	chr1:85735000-85741400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:85735000-85741400	Weak transcription	Pancreas	Pancrea
27	chr1:85735400-85740600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:85735600-85739800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:85735600-85740000	Weak transcription	Brain Angular Gyrus	brain
30	chr1:85735600-85740000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:85735600-85740400	Weak transcription	A549	lung
32	chr1:85735600-85741400	Weak transcription	Lung	lung
33	chr1:85735800-85739800	Weak transcription	Fetal Heart	heart
34	chr1:85735800-85739800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:85735800-85740000	Weak transcription	Fetal Brain Male	brain
36	chr1:85735800-85740200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:85735800-85740600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:85736200-85739400	Weak transcription	Right Ventricle	heart
39	chr1:85736200-85740000	Weak transcription	Brain Anterior Caudate	brain
40	chr1:85736200-85740200	Weak transcription	Ovary	ovary
41	chr1:85736200-85740200	Weak transcription	Thymus	Thymus
42	chr1:85736200-85740600	Weak transcription	Esophagus	oesophagus
43	chr1:85736400-85739600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:85736400-85740000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:85736400-85740200	Weak transcription	Fetal Kidney	kidney
46	chr1:85736400-85740200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:85736600-85739200	Weak transcription	Liver	Liver
48	chr1:85736600-85739600	Enhancers	Small Intestine	intestine
49	chr1:85736800-85739400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:85736800-85740400	Weak transcription	Brain Substantia Nigra	brain

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