Variant report

Variant	rs73175852
Chromosome Location	chr7:103010244-103010245
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:102987032..102988537-chr7:103008097..103010401,2	MCF-7	breast:
2	chr7:103009562..103011311-chr7:103018091..103020895,2	K562	blood:
3	chr7:5465182..5467574-chr7:103008452..103011279,2	MCF-7	breast:
4	chr7:102983013..102986509-chr7:103008284..103010898,3	MCF-7	breast:
5	chr7:103008741..103010911-chr7:104653909..104656854,2	MCF-7	breast:
6	chr7:103008122..103010482-chr7:103019967..103021498,2	K562	blood:
7	chr7:103009870..103012490-chr7:103026042..103028521,2	K562	blood:
8	chr7:103002267..103005655-chr7:103007426..103011602,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000161057	Chromatin interaction
ENSG00000272953	Chromatin interaction
ENSG00000105821	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10271758	0.91[ASN][1000 genomes]
rs11978339	0.96[ASN][1000 genomes]
rs17136728	0.96[ASN][1000 genomes]
rs17680523	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3087615	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35399723	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4729911	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62482370	0.84[EUR][1000 genomes]
rs62482394	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62482397	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62482398	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62482399	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62482403	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62482404	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62482405	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62482406	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6972190	0.81[ASN][1000 genomes]
rs73175837	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	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
rs73175852	RP11-401L13.5	cis	Thyroid	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102989200-103010600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:102989200-103011400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:102989200-103013200	Weak transcription	Stomach Mucosa	stomach
4	chr7:102989800-103021200	Weak transcription	Fetal Heart	heart
5	chr7:102990600-103010600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:102990800-103011200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:102991000-103010800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:102991000-103011400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:102991400-103011200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr7:102991400-103011400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr7:102991400-103011400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr7:102991400-103011600	Strong transcription	Fetal Thymus	thymus
13	chr7:102991600-103010600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:102991600-103010800	Strong transcription	NH-A	brain
15	chr7:102991600-103011200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:102991600-103011200	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr7:102991800-103011200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:102992000-103010400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:102992000-103010400	Strong transcription	Osteobl	bone
20	chr7:102992000-103011200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:102992400-103011400	Strong transcription	Adipose Nuclei	Adipose
22	chr7:102992800-103011200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:102993000-103010600	Strong transcription	Fetal Intestine Large	intestine
24	chr7:102993000-103010800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr7:102993000-103011200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:102993600-103010600	Strong transcription	Dnd41	blood
27	chr7:102993600-103010800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr7:102993800-103010400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:102994600-103011200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:102994800-103010600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:102994800-103010600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr7:102994800-103010600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:102995000-103011400	Strong transcription	Liver	Liver
34	chr7:102995600-103011000	Strong transcription	Left Ventricle	heart
35	chr7:102998800-103011200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr7:102999600-103010600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:102999600-103010800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:102999800-103010400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr7:102999800-103010600	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:103000000-103010400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:103000000-103010600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:103000000-103010800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:103000000-103011200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr7:103000600-103010600	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr7:103000600-103011200	Strong transcription	Fetal Brain Female	brain
46	chr7:103002400-103011200	Strong transcription	Brain Germinal Matrix	brain
47	chr7:103004000-103010600	Strong transcription	Brain Hippocampus Middle	brain
48	chr7:103005000-103014800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:103006400-103010400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:103006400-103011200	Strong transcription	HSMM	muscle

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