Variant report

Variant	rs62482394
Chromosome Location	chr7:102946088-102946089
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102936782..102939322-chr7:102944870..102947708,2	K562	blood:
2	chr7:102944745..102947307-chr7:102965123..102967407,2	K562	blood:
3	chr7:102941816..102944695-chr7:102945655..102947787,3	K562	blood:
4	chr7:102945649..102948219-chr7:102988221..102989822,2	MCF-7	breast:
5	chr7:102945838..102949503-chr7:103019550..103022202,3	K562	blood:
6	chr7:102940663..102947555-chr7:102980823..102987452,8	K562	blood:

Variant related genes	Relation type
ENSG00000105821	Chromatin interaction
ENSG00000161057	Chromatin interaction
ENSG00000105819	Chromatin interaction
ENSG00000235354	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10245155	1.00[ASN][1000 genomes]
rs10266523	0.97[ASN][1000 genomes]
rs17680523	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2878	0.97[ASN][1000 genomes]
rs3087615	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35399723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4729911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62482370	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62482371	0.82[ASN][1000 genomes]
rs62482396	1.00[ASN][1000 genomes]
rs62482397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62482398	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62482399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62482403	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62482404	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62482405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62482406	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6971734	1.00[ASN][1000 genomes]
rs73175837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175852	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7777392	0.82[ASN][1000 genomes]
rs7810558	0.82[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	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv831084	chr7:102778908-102964970	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62482394	RP11-401L13.5	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102938400-102957000	Weak transcription	Spleen	Spleen
2	chr7:102938600-102946400	Weak transcription	Esophagus	oesophagus
3	chr7:102938600-102951400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:102938600-102957000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:102938600-102984200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:102938800-102957000	Weak transcription	Aorta	Aorta
7	chr7:102939000-102946800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:102939000-102965200	Weak transcription	Right Ventricle	heart
9	chr7:102939000-102969200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr7:102939200-102946800	Weak transcription	Psoas Muscle	Psoas
11	chr7:102939200-102947800	Weak transcription	Fetal Brain Male	brain
12	chr7:102939200-102947800	Weak transcription	Fetal Heart	heart
13	chr7:102939200-102949600	Strong transcription	Left Ventricle	heart
14	chr7:102939200-102962000	Weak transcription	Right Atrium	heart
15	chr7:102939200-102967400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:102939200-102968400	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr7:102939200-102968400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:102939200-102972400	Strong transcription	Fetal Thymus	thymus
19	chr7:102939400-102948400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr7:102939400-102950800	Weak transcription	Small Intestine	intestine
21	chr7:102939400-102958800	Weak transcription	Gastric	stomach
22	chr7:102939400-102964800	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:102939400-102965600	Strong transcription	Fetal Lung	lung
24	chr7:102939400-102966800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:102939400-102967800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:102939400-102967800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:102939400-102968000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr7:102939400-102968000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr7:102939400-102968200	Strong transcription	Placenta	Placenta
30	chr7:102939400-102968200	Strong transcription	HSMM	muscle
31	chr7:102939400-102969800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:102939600-102946800	Strong transcription	NHDF-Ad	bronchial
33	chr7:102939600-102947800	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:102939600-102948200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr7:102939600-102948800	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr7:102939600-102949600	Strong transcription	Thymus	Thymus
37	chr7:102939600-102963200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr7:102939600-102965400	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr7:102939600-102966800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr7:102939600-102968000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:102939600-102968000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:102939600-102968000	Strong transcription	Fetal Intestine Large	intestine
43	chr7:102939600-102968000	Strong transcription	Fetal Muscle Leg	muscle
44	chr7:102939600-102968400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:102939600-102968400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:102939600-102968600	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:102939600-102969800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:102939600-102970000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:102939800-102946200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
50	chr7:102939800-102946400	Strong transcription	Primary T cells from cord blood	blood

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