Variant report

Variant	rs73125957
Chromosome Location	chr5:79443040-79443041
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79442267..79444978-chr5:79549269..79551802,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-THBS4-6	chr5:79442900-79443344	NONHSAT102392

Variant related genes	Relation type
ENSG00000164300	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11958490	1.00[EUR][1000 genomes]
rs17883722	1.00[EUR][1000 genomes]
rs58066027	1.00[EUR][1000 genomes]
rs58965928	1.00[EUR][1000 genomes]
rs60225067	1.00[EUR][1000 genomes]
rs73125935	1.00[EUR][1000 genomes]
rs73125936	1.00[EUR][1000 genomes]
rs73125953	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73125989	1.00[EUR][1000 genomes]
rs73772233	1.00[EUR][1000 genomes]
rs73772249	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79432400-79449000	Weak transcription	Fetal Brain Female	brain
2	chr5:79433600-79476600	Weak transcription	Small Intestine	intestine
3	chr5:79435200-79447600	Strong transcription	Liver	Liver
4	chr5:79435800-79453600	Strong transcription	Fetal Intestine Small	intestine
5	chr5:79436600-79447400	Weak transcription	Stomach Mucosa	stomach
6	chr5:79436600-79448200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
7	chr5:79437000-79448200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr5:79437000-79448200	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:79437200-79443200	Weak transcription	Aorta	Aorta
10	chr5:79437200-79448000	Strong transcription	Dnd41	blood
11	chr5:79437400-79448000	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr5:79437600-79444600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:79437600-79445800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:79437600-79448200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr5:79437600-79449600	Weak transcription	Right Atrium	heart
16	chr5:79437600-79449600	Weak transcription	NHLF	lung
17	chr5:79437600-79456200	Weak transcription	HSMM	muscle
18	chr5:79437600-79464000	Weak transcription	Spleen	Spleen
19	chr5:79437800-79443200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:79437800-79443200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:79437800-79445400	Weak transcription	Fetal Kidney	kidney
22	chr5:79437800-79454800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:79437800-79471400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:79438000-79447000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr5:79438000-79455600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:79438200-79443200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr5:79438200-79443200	Weak transcription	Right Ventricle	heart
28	chr5:79438200-79443600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:79438400-79447400	Strong transcription	HepG2	liver
30	chr5:79438400-79448800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr5:79438400-79449600	Strong transcription	Placenta	Placenta
32	chr5:79438600-79443800	Strong transcription	Osteobl	bone
33	chr5:79438600-79448200	Strong transcription	Fetal Intestine Large	intestine
34	chr5:79438600-79482600	Weak transcription	Psoas Muscle	Psoas
35	chr5:79438800-79445200	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr5:79438800-79446800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:79439000-79448000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:79439000-79449400	Weak transcription	HMEC	breast
39	chr5:79439200-79443200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:79439200-79455000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr5:79439200-79456200	Strong transcription	Fetal Stomach	stomach
42	chr5:79439400-79445000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:79439600-79444000	Strong transcription	Fetal Lung	lung
44	chr5:79439600-79444400	Strong transcription	Adipose Nuclei	Adipose
45	chr5:79439600-79444400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr5:79439600-79444600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:79439600-79445200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr5:79439600-79445200	Weak transcription	Ovary	ovary
49	chr5:79439600-79446800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:79439800-79443200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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