Variant report

Variant	rs73360359
Chromosome Location	chr7:56019181-56019182
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:56018856-56020506	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:56019119-56020303	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:56017138..56022365-chr7:56030961..56033857,7	MCF-7	breast:
2	chr7:56018384..56020889-chr7:56129856..56132224,2	K562	blood:
3	chr7:56018437..56023114-chr7:56029023..56035214,11	K562	blood:
4	chr7:56017145..56021503-chr7:56030472..56033942,8	MCF-7	breast:
5	chr7:56018165..56022272-chr7:56129856..56132253,4	K562	blood:

No data

Variant related genes	Relation type
GBAS	TF binding region
MRPS17	TF binding region
ENSG00000146731	Chromatin interaction
ENSG00000129103	Chromatin interaction
ENSG00000146729	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10229446	0.92[ASN][1000 genomes]
rs10245725	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10250964	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10252442	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10266902	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10271662	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10272406	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10435504	0.92[ASN][1000 genomes]
rs11765531	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11765577	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2135116	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28636652	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28678267	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28828764	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34016595	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35844144	0.97[ASN][1000 genomes]
rs4470984	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4535700	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4543497	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4689	0.92[ASN][1000 genomes]
rs4947533	0.89[ASN][1000 genomes]
rs4948096	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4948097	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4948099	0.90[ASN][1000 genomes]
rs57153841	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57251705	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60517461	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593292	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6593294	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs66528253	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6943341	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6954499	0.90[ASN][1000 genomes]
rs73132854	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73132897	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73360358	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7800001	0.89[ASN][1000 genomes]
rs9642405	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
9	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv1034826	chr7:55962159-56092835	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv1033225	chr7:55962159-56094540	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv981772	chr7:56009678-56020897	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56007800-56019200	Weak transcription	Ovary	ovary
2	chr7:56007800-56019400	Weak transcription	Fetal Brain Male	brain
3	chr7:56009400-56019200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:56009600-56019200	Weak transcription	Fetal Lung	lung
5	chr7:56010600-56019200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:56010600-56019200	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:56011400-56019200	Weak transcription	Pancreas	Pancrea
8	chr7:56012200-56019200	Weak transcription	Fetal Stomach	stomach
9	chr7:56017200-56019200	Weak transcription	Right Atrium	heart
10	chr7:56018400-56019600	Active TSS	HepG2	liver
11	chr7:56018400-56020000	Active TSS	Placenta	Placenta
12	chr7:56018400-56020400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr7:56018600-56020600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr7:56018600-56020800	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr7:56018800-56019200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr7:56018800-56019800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr7:56019000-56019200	Enhancers	Primary B cells from cord blood	blood
18	chr7:56019000-56019200	Enhancers	Primary B cells from peripheral blood	blood
19	chr7:56019000-56019400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:56019000-56019400	Active TSS	Fetal Muscle Trunk	muscle
21	chr7:56019000-56019600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr7:56019000-56019600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:56019000-56019600	Active TSS	Adipose Nuclei	Adipose
24	chr7:56019000-56019600	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr7:56019000-56019600	Active TSS	Dnd41	blood
26	chr7:56019000-56019800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:56019000-56019800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:56019000-56019800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:56019000-56019800	Active TSS	Brain Angular Gyrus	brain
30	chr7:56019000-56019800	Active TSS	Stomach Smooth Muscle	stomach
31	chr7:56019000-56020000	Active TSS	Primary T cells from cord blood	blood
32	chr7:56019000-56020000	Active TSS	Brain Anterior Caudate	brain
33	chr7:56019000-56020000	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr7:56019000-56020000	Active TSS	Esophagus	oesophagus
35	chr7:56019000-56020000	Active TSS	Fetal Brain Female	brain
36	chr7:56019000-56020000	Active TSS	Fetal Muscle Leg	muscle
37	chr7:56019000-56020000	Active TSS	Thymus	Thymus
38	chr7:56019000-56020200	Active TSS	Brain Germinal Matrix	brain
39	chr7:56019000-56020200	Active TSS	Psoas Muscle	Psoas
40	chr7:56019000-56020200	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr7:56019000-56020400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:56019000-56020400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:56019000-56020400	Active TSS	Duodenum Mucosa	Duodenum
44	chr7:56019000-56020400	Active TSS	Fetal Intestine Small	intestine
45	chr7:56019000-56020400	Active TSS	Fetal Kidney	kidney
46	chr7:56019000-56020400	Active TSS	Rectal Smooth Muscle	rectum
47	chr7:56019000-56020400	Active TSS	A549	lung
48	chr7:56019000-56020400	Active TSS	Monocytes-CD14+_RO01746	blood
49	chr7:56019000-56020600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:56019000-56020600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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