Variant report

Variant	rs17004701
Chromosome Location	chr21:46182901-46182902
allele	A/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46180771..46183502-chr21:46265966..46267491,2	MCF-7	breast:
2	chr21:46168780..46172261-chr21:46182031..46184514,3	K562	blood:
3	chr21:46182776..46184894-chr21:46189262..46192289,3	K562	blood:
4	chr21:46181841..46189587-chr21:46189919..46197097,16	MCF-7	breast:
5	chr21:46168183..46170005-chr21:46182866..46185024,2	MCF-7	breast:
6	chr21:46171917..46177806-chr21:46181342..46188371,13	MCF-7	breast:
7	chr21:46182055..46185052-chr21:46201680..46204266,2	MCF-7	breast:
8	chr21:46181402..46184380-chr21:46359332..46361437,2	K562	blood:
9	chr21:46171125..46175584-chr21:46182573..46186541,7	MCF-7	breast:
10	chr21:46175791..46179741-chr21:46180006..46182976,4	K562	blood:
11	chr21:46181840..46185418-chr21:46198665..46202269,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183250	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000160256	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12626275	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2008604	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs235351	0.85[ASN][1000 genomes]
rs235362	0.85[ASN][1000 genomes]
rs235363	0.85[ASN][1000 genomes]
rs2838672	0.96[ASN][1000 genomes]
rs2838682	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838684	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838685	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35627976	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56357729	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73232962	0.82[EUR][1000 genomes]
rs9647228	0.94[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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17004701	PTTG1IP	cis	lung	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46168000-46185800	Weak transcription	Right Atrium	heart
2	chr21:46171400-46183400	Weak transcription	Gastric	stomach
3	chr21:46179000-46183400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:46179600-46184600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:46180800-46183400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:46180800-46184800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:46181200-46188000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr21:46181400-46183000	Flanking Active TSS	HepG2	liver
9	chr21:46181600-46184800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr21:46181600-46185000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr21:46181800-46183000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr21:46181800-46184400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:46181800-46184400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr21:46181800-46185000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr21:46181800-46185000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr21:46181800-46188000	Weak transcription	Fetal Intestine Small	intestine
17	chr21:46181800-46188400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr21:46182000-46183800	Weak transcription	Esophagus	oesophagus
19	chr21:46182000-46184600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr21:46182000-46184600	Weak transcription	K562	blood
21	chr21:46182000-46186400	Weak transcription	Fetal Muscle Leg	muscle
22	chr21:46182200-46183200	Weak transcription	HMEC	breast
23	chr21:46182200-46185000	Weak transcription	Fetal Intestine Large	intestine
24	chr21:46182200-46189000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr21:46182400-46187000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr21:46182600-46184000	Enhancers	Fetal Muscle Trunk	muscle
27	chr21:46182600-46188600	Weak transcription	Liver	Liver
28	chr21:46182800-46183000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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