Variant report

Variant	rs73409312
Chromosome Location	chr8:131277689-131277690
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131276192..131278199-chr8:131282560..131285411,2	MCF-7	breast:
2	chr8:131277435..131279896-chr8:131293652..131295449,2	K562	blood:
3	chr8:131276972..131278899-chr8:131290636..131293294,2	K562	blood:
4	chr8:131276737..131278356-chr8:131369594..131371515,3	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs56928931	0.83[AFR][1000 genomes]
rs57129132	0.83[AFR][1000 genomes]
rs59496740	0.83[AFR][1000 genomes]
rs73409308	1.00[AFR][1000 genomes]
rs73409315	0.83[AFR][1000 genomes]
rs73409341	1.00[AFR][1000 genomes]
rs73409344	1.00[AFR][1000 genomes]
rs73409350	1.00[AFR][1000 genomes]
rs73409355	0.83[AFR][1000 genomes]
rs73417906	1.00[AFR][1000 genomes]
rs73417935	1.00[AFR][1000 genomes]
rs73417940	0.83[AFR][1000 genomes]
rs73417948	1.00[AFR][1000 genomes]
rs73417951	1.00[AFR][1000 genomes]
rs73425601	1.00[AFR][1000 genomes]
rs73427323	1.00[AFR][1000 genomes]
rs73427331	1.00[AFR][1000 genomes]
rs73427358	0.83[AFR][1000 genomes]
rs73427361	0.83[AFR][1000 genomes]
rs73427414	1.00[AFR][1000 genomes]
rs73427426	1.00[AFR][1000 genomes]
rs73427428	1.00[AFR][1000 genomes]
rs73427429	1.00[AFR][1000 genomes]
rs73427430	1.00[AFR][1000 genomes]
rs73427432	1.00[AFR][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:131257400-131281600	Weak transcription	Gastric	stomach
3	chr8:131268400-131281600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:131268400-131291400	Weak transcription	Fetal Intestine Large	intestine
5	chr8:131268800-131281000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:131268800-131281400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:131269400-131280000	Weak transcription	Fetal Lung	lung
8	chr8:131270600-131283600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:131270600-131291200	Weak transcription	Liver	Liver
10	chr8:131270800-131278800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:131271000-131279000	Enhancers	HMEC	breast
12	chr8:131271200-131278600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:131271400-131278600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:131272200-131286600	Weak transcription	Primary B cells from cord blood	blood
15	chr8:131272400-131281400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:131273200-131278600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr8:131274000-131278600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:131274600-131277800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:131274800-131277800	Enhancers	Hela-S3	cervix
20	chr8:131274800-131278400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:131275000-131278600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr8:131275000-131278600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:131275000-131278600	Enhancers	HepG2	liver
24	chr8:131275200-131278600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:131275400-131278000	Enhancers	Small Intestine	intestine
26	chr8:131275400-131278200	Enhancers	Brain Anterior Caudate	brain
27	chr8:131275400-131278600	Enhancers	Left Ventricle	heart
28	chr8:131275400-131278600	Enhancers	Spleen	Spleen
29	chr8:131275400-131280600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:131275400-131281000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:131275400-131283000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:131275600-131278600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:131275600-131280400	Enhancers	HUVEC	blood vessel
34	chr8:131275600-131281200	Enhancers	Osteobl	bone
35	chr8:131275600-131281400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:131275600-131289000	Weak transcription	Fetal Intestine Small	intestine
37	chr8:131275800-131278600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr8:131275800-131278600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr8:131275800-131279000	Enhancers	Primary T cells from cord blood	blood
40	chr8:131275800-131281200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr8:131276000-131278400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr8:131276000-131278400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr8:131276000-131278400	Enhancers	Psoas Muscle	Psoas
44	chr8:131276000-131278600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:131276000-131278600	Enhancers	Right Atrium	heart
46	chr8:131276000-131278600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr8:131276000-131278800	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr8:131276200-131278000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:131276200-131278600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr8:131276200-131278600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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