Variant report

Variant	rs1965519
Chromosome Location	chr7:101361062-101361063
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	chr7:101360494..101364353-chr7:101457066..101461812,6	MCF-7	breast:
2	chr7:101360591..101363401-chr7:101364095..101366139,2	MCF-7	breast:
3	chr7:101358883..101362441-chr7:101383235..101387377,4	MCF-7	breast:
4	chr7:101345813..101348514-chr7:101359172..101361201,2	MCF-7	breast:
5	chr7:101358313..101363414-chr7:101457300..101460458,5	MCF-7	breast:
6	chr7:101359739..101361409-chr7:101369275..101370886,2	MCF-7	breast:
7	chr7:101353778..101358971-chr7:101359540..101363864,5	MCF-7	breast:
8	chr7:101360484..101362871-chr7:101366884..101369233,2	MCF-7	breast:
9	chr7:101359528..101362739-chr7:101371224..101372891,4	MCF-7	breast:
10	chr7:101360472..101364691-chr7:101369638..101374194,4	K562	blood:
11	chr7:101360823..101364160-chr7:101364363..101367581,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10259235	0.81[ASN][1000 genomes]
rs1722207	0.81[CHB][hapmap]
rs1969432	0.80[AMR][1000 genomes]
rs2246401	0.83[ASN][1000 genomes]
rs2250433	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2429067	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2462336	0.82[ASN][1000 genomes]
rs2529179	0.83[ASN][1000 genomes]
rs2529182	0.83[ASN][1000 genomes]
rs2529185	0.85[CHB][hapmap]
rs2529187	0.90[CHB][hapmap]
rs2529190	0.90[CHB][hapmap];0.83[CHD][hapmap]
rs2529238	0.80[GIH][hapmap];0.94[JPT][hapmap]
rs2529239	0.82[ASN][1000 genomes]
rs2529240	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2529241	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2529243	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs2529246	0.83[ASN][1000 genomes]
rs2690887	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs2690888	0.81[ASN][1000 genomes]
rs2690890	1.00[CHB][hapmap];0.80[JPT][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2690891	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2690892	0.83[ASN][1000 genomes]
rs2690893	0.83[ASN][1000 genomes]
rs2690950	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9649235	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1018544	chr7:101225639-101424889	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv539045	chr7:101225639-101424889	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv482758	chr7:101231458-101395219	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1021797	chr7:101342353-101466957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv539046	chr7:101342353-101466957	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1965519	MYH16	cis	cerebellum	SCAN
rs1965519	ARPC1A	cis	parietal	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101332000-101376800	Weak transcription	Right Atrium	heart
2	chr7:101351800-101361400	Weak transcription	Esophagus	oesophagus
3	chr7:101352600-101361600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:101359800-101364200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:101360200-101362200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr7:101360400-101362400	Enhancers	Placenta	Placenta
7	chr7:101360400-101362600	Enhancers	Fetal Intestine Small	intestine
8	chr7:101360600-101361200	Flanking Active TSS	HepG2	liver
9	chr7:101360600-101361200	Enhancers	HSMM	muscle
10	chr7:101360600-101361600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr7:101360600-101361800	Enhancers	Adipose Nuclei	Adipose
12	chr7:101360600-101362000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:101360600-101362200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:101360600-101364800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr7:101360600-101365600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:101360600-101365600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:101360600-101366600	Enhancers	Fetal Intestine Large	intestine
18	chr7:101360800-101361200	Active TSS	Spleen	Spleen
19	chr7:101360800-101361200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr7:101360800-101361400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:101360800-101361400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:101360800-101361400	Enhancers	Liver	Liver
23	chr7:101360800-101361400	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr7:101360800-101361400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr7:101360800-101361600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:101360800-101361600	Enhancers	Duodenum Mucosa	Duodenum
27	chr7:101360800-101361600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr7:101360800-101361600	Enhancers	Fetal Lung	lung
29	chr7:101360800-101361600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr7:101360800-101361600	Flanking Active TSS	Hela-S3	cervix
31	chr7:101360800-101361600	Enhancers	HMEC	breast
32	chr7:101360800-101361800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:101360800-101361800	Enhancers	Primary B cells from cord blood	blood
34	chr7:101360800-101361800	Enhancers	Primary hematopoietic stem cells	blood
35	chr7:101360800-101361800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:101360800-101361800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:101360800-101361800	Enhancers	Colonic Mucosa	Colon
38	chr7:101360800-101361800	Flanking Active TSS	Osteobl	bone
39	chr7:101360800-101362000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr7:101360800-101362000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr7:101360800-101362000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr7:101360800-101362400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:101360800-101362400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:101360800-101362600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr7:101360800-101365000	Enhancers	Fetal Thymus	thymus
46	chr7:101361000-101361200	Enhancers	HSMMtube	muscle
47	chr7:101361000-101361400	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr7:101361000-101361600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:101361000-101361800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:101361000-101361800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin

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