Variant report

Variant	rs67875138
Chromosome Location	chr4:175160619-175160620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:175158981..175160694-chr4:175204143..175205940,2	MCF-7	breast:
2	chr4:175160118..175162210-chr4:175163312..175164848,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164117	Chromatin interaction
ENSG00000164118	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11555602	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs14278	0.89[AMR][1000 genomes]
rs17060409	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17060445	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66565786	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67936635	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67940320	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72702214	0.90[AMR][1000 genomes]
rs72702215	0.84[AMR][1000 genomes]
rs72702216	0.84[AMR][1000 genomes]
rs72702219	0.89[AMR][1000 genomes]
rs72702220	0.89[AMR][1000 genomes]
rs72702225	0.89[AMR][1000 genomes]
rs72702227	0.89[AMR][1000 genomes]
rs72702228	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72702230	0.89[AMR][1000 genomes]
rs72702234	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72702236	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72702242	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72702244	1.00[ASN][1000 genomes]
rs72702246	1.00[ASN][1000 genomes]
rs72702249	1.00[ASN][1000 genomes]
rs72702250	1.00[ASN][1000 genomes]
rs72702258	1.00[ASN][1000 genomes]
rs73009476	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7656298	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7664501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7681841	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7692518	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7697587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175147000-175163000	Weak transcription	Fetal Stomach	stomach
2	chr4:175147600-175195200	Weak transcription	Psoas Muscle	Psoas
3	chr4:175151000-175163200	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:175151400-175192800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:175151600-175162600	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:175151800-175169400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:175151800-175181600	Weak transcription	Brain Angular Gyrus	brain
8	chr4:175152000-175165400	Weak transcription	NHDF-Ad	bronchial
9	chr4:175152400-175162000	Weak transcription	Brain Anterior Caudate	brain
10	chr4:175152600-175169400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:175152600-175176400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:175153000-175174200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:175153200-175169000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:175153200-175174600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr4:175153200-175184000	Weak transcription	Lung	lung
16	chr4:175153400-175191600	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:175154200-175161800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:175154200-175204000	Weak transcription	Aorta	Aorta
19	chr4:175154200-175204200	Weak transcription	Esophagus	oesophagus
20	chr4:175154400-175186200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:175154400-175202400	Weak transcription	Gastric	stomach
22	chr4:175155400-175166800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr4:175155400-175185000	Weak transcription	Spleen	Spleen
24	chr4:175155600-175177000	Weak transcription	Fetal Kidney	kidney
25	chr4:175155600-175178200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:175155800-175186600	Weak transcription	Fetal Brain Female	brain
27	chr4:175156200-175161200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:175156200-175162800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:175156200-175169600	Weak transcription	HSMMtube	muscle
30	chr4:175156200-175174400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr4:175156200-175174400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:175156400-175161200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr4:175156400-175162400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr4:175156600-175161600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:175156600-175162400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr4:175156600-175165000	Weak transcription	HSMM	muscle
37	chr4:175156600-175181600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:175156800-175165400	Weak transcription	HMEC	breast
39	chr4:175156800-175177000	Weak transcription	Brain Substantia Nigra	brain
40	chr4:175156800-175183400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:175157000-175162800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr4:175157000-175179600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr4:175157000-175181400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr4:175157000-175184000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr4:175157200-175161000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr4:175157200-175162400	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr4:175157400-175162200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:175157600-175161600	Weak transcription	HUVEC	blood vessel
49	chr4:175158200-175162800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr4:175158200-175163000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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