Variant report

Variant	rs73425364
Chromosome Location	chr8:131140729-131140730
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131134192..131138136-chr8:131138332..131141936,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11993716	0.85[ASN][1000 genomes]
rs12675936	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12676014	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12676536	0.93[ASN][1000 genomes]
rs12676577	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12676977	0.93[ASN][1000 genomes]
rs13253189	0.85[ASN][1000 genomes]
rs13256967	0.93[ASN][1000 genomes]
rs16904201	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16904220	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16904228	0.85[ASN][1000 genomes]
rs2114197	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55815182	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57047177	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61558949	0.85[ASN][1000 genomes]
rs6986746	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7006658	0.85[ASN][1000 genomes]
rs7014715	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7017795	0.85[ASN][1000 genomes]
rs73405563	0.85[ASN][1000 genomes]
rs7822764	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836536	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7837833	0.80[ASN][1000 genomes]
rs897050	0.93[ASN][1000 genomes]
rs9942745	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131113000-131142000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:131116000-131141400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:131116000-131141400	Strong transcription	Primary T cells from cord blood	blood
5	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr8:131118000-131141000	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:131118400-131140800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr8:131118400-131143600	Weak transcription	Stomach Mucosa	stomach
9	chr8:131118600-131140800	Strong transcription	Primary B cells from cord blood	blood
10	chr8:131118800-131141000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:131119600-131140800	Strong transcription	Liver	Liver
12	chr8:131124000-131140800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:131124800-131145800	Weak transcription	Right Ventricle	heart
14	chr8:131125600-131141800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr8:131125600-131143600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:131125800-131151800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:131126400-131141600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:131128000-131143600	Weak transcription	Aorta	Aorta
19	chr8:131128000-131143600	Weak transcription	Pancreas	Pancrea
20	chr8:131128200-131154800	Weak transcription	Colonic Mucosa	Colon
21	chr8:131128800-131147200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr8:131128800-131186800	Weak transcription	Fetal Brain Male	brain
23	chr8:131129200-131141000	Strong transcription	Adipose Nuclei	Adipose
24	chr8:131129200-131144400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:131129200-131147200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:131130400-131180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr8:131130800-131146000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:131132600-131140800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr8:131132600-131143000	Weak transcription	Fetal Intestine Small	intestine
30	chr8:131133000-131143600	Weak transcription	Esophagus	oesophagus
31	chr8:131133000-131147000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:131133800-131141400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:131134200-131141200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:131134200-131142600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:131134400-131141200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:131135000-131140800	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr8:131135600-131147200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:131136600-131141600	Strong transcription	Fetal Muscle Leg	muscle
39	chr8:131137000-131141600	Strong transcription	HMEC	breast
40	chr8:131137600-131140800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:131137600-131146000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr8:131137600-131154800	Weak transcription	Psoas Muscle	Psoas
43	chr8:131138400-131141800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:131138400-131146400	Strong transcription	HSMM	muscle
45	chr8:131138600-131140800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:131138600-131140800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr8:131138600-131140800	Strong transcription	Spleen	Spleen
48	chr8:131138600-131141400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr8:131138600-131141600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:131138800-131140800	Strong transcription	Skeletal Muscle Male	skeletal muscle

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