Variant report

Variant	rs773071
Chromosome Location	chr8:42763494-42763495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:42760280..42764060-chr8:42770544..42773563,4	K562	blood:
2	chr8:42762186..42764110-chr8:42765641..42767378,2	K562	blood:
3	chr8:42761584..42764577-chr8:42775485..42778471,2	K562	blood:
4	chr8:42761435..42764060-chr8:42771198..42773563,2	K562	blood:
5	chr8:42762265..42764358-chr8:42767215..42769143,2	MCF-7	breast:
6	chr8:42750720..42756430-chr8:42762967..42765897,6	K562	blood:

Variant related genes	Relation type
ENSG00000266044	Chromatin interaction
ENSG00000168172	Chromatin interaction
ENSG00000120925	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10087388	0.87[ASN][1000 genomes]
rs10107916	0.87[ASN][1000 genomes]
rs1081884	0.91[ASN][1000 genomes]
rs1081885	0.97[ASN][1000 genomes]
rs1081886	1.00[ASN][1000 genomes]
rs10958736	0.87[AMR][1000 genomes]
rs1620525	0.81[ASN][1000 genomes]
rs1625050	1.00[ASN][1000 genomes]
rs1648119	0.89[ASN][1000 genomes]
rs1648120	0.89[ASN][1000 genomes]
rs1648121	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2692077	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28539345	0.92[ASN][1000 genomes]
rs28626408	0.87[AMR][1000 genomes]
rs4294230	0.87[AMR][1000 genomes]
rs6474429	0.84[AMR][1000 genomes]
rs6986338	0.92[ASN][1000 genomes]
rs7463608	0.84[AMR][1000 genomes]
rs773068	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs773069	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs773070	0.97[ASN][1000 genomes]
rs773072	1.00[ASN][1000 genomes]
rs7812948	0.92[ASN][1000 genomes]
rs7831069	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7835435	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7838899	0.84[AMR][1000 genomes]
rs7841772	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
2	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
3	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42753600-42764400	Weak transcription	Placenta	Placenta
2	chr8:42753600-42764600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:42753600-42764600	Weak transcription	Lung	lung
4	chr8:42753600-42771000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:42753600-42771800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:42753600-42785800	Weak transcription	Esophagus	oesophagus
7	chr8:42754000-42764200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:42754000-42764600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:42754000-42768400	Weak transcription	Fetal Kidney	kidney
10	chr8:42754000-42769600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:42754000-42771000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:42754000-42771200	Weak transcription	Small Intestine	intestine
13	chr8:42754000-42771800	Weak transcription	Aorta	Aorta
14	chr8:42754000-42772000	Weak transcription	Colonic Mucosa	Colon
15	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
16	chr8:42754200-42764800	Weak transcription	NH-A	brain
17	chr8:42754200-42768000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:42754200-42771000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:42754200-42771400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:42754200-42775200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:42754400-42765200	Weak transcription	Osteobl	bone
22	chr8:42754400-42772000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:42754400-42806400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:42754600-42771600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:42754600-42772000	Weak transcription	Ovary	ovary
26	chr8:42754600-42781800	Weak transcription	Hela-S3	cervix
27	chr8:42754800-42764400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:42754800-42812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:42755000-42764000	Weak transcription	Brain Germinal Matrix	brain
30	chr8:42755000-42764600	Weak transcription	NHEK	skin
31	chr8:42755000-42766200	Weak transcription	Fetal Stomach	stomach
32	chr8:42755000-42787600	Weak transcription	Fetal Brain Male	brain
33	chr8:42755400-42765600	Weak transcription	Fetal Lung	lung
34	chr8:42755400-42765800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:42755800-42764800	Weak transcription	Liver	Liver
36	chr8:42755800-42785800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr8:42756200-42763600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr8:42756200-42764600	Weak transcription	Fetal Brain Female	brain
39	chr8:42756200-42765600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:42756200-42775000	Weak transcription	Right Ventricle	heart
41	chr8:42756200-42775200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:42756400-42764400	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:42756400-42764400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr8:42756400-42768800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:42756400-42771000	Weak transcription	Left Ventricle	heart
46	chr8:42756400-42771200	Weak transcription	Right Atrium	heart
47	chr8:42756400-42771800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:42757200-42764200	Weak transcription	NHLF	lung
49	chr8:42757200-42772000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr8:42757400-42765400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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