Variant report

Variant	rs36065517
Chromosome Location	chr8:131141226-131141227
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131140935..131143868-chr8:131153030..131155718,2	K562	blood:
2	chr8:131134192..131138136-chr8:131138332..131141936,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13250469	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13278110	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1549454	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17196525	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17209339	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2045093	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28407848	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28752214	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35713491	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4733773	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4733774	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6988276	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7387355	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7843126	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7846662	0.83[AMR][1000 genomes];0.87[EUR][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	chr8:131118400-131143600	Weak transcription	Stomach Mucosa	stomach
7	chr8:131124800-131145800	Weak transcription	Right Ventricle	heart
8	chr8:131125600-131141800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr8:131125600-131143600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:131125800-131151800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:131126400-131141600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:131128000-131143600	Weak transcription	Aorta	Aorta
13	chr8:131128000-131143600	Weak transcription	Pancreas	Pancrea
14	chr8:131128200-131154800	Weak transcription	Colonic Mucosa	Colon
15	chr8:131128800-131147200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr8:131128800-131186800	Weak transcription	Fetal Brain Male	brain
17	chr8:131129200-131144400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:131129200-131147200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:131130400-131180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:131130800-131146000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:131132600-131143000	Weak transcription	Fetal Intestine Small	intestine
22	chr8:131133000-131143600	Weak transcription	Esophagus	oesophagus
23	chr8:131133000-131147000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:131133800-131141400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:131134200-131142600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:131135600-131147200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:131136600-131141600	Strong transcription	Fetal Muscle Leg	muscle
28	chr8:131137000-131141600	Strong transcription	HMEC	breast
29	chr8:131137600-131146000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:131137600-131154800	Weak transcription	Psoas Muscle	Psoas
31	chr8:131138400-131141800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:131138400-131146400	Strong transcription	HSMM	muscle
33	chr8:131138600-131141400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr8:131138600-131141600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:131138800-131141400	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:131138800-131141400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr8:131138800-131141800	Strong transcription	A549	lung
38	chr8:131138800-131146400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:131138800-131164600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr8:131139000-131141400	Strong transcription	Primary hematopoietic stem cells	blood
41	chr8:131139000-131141400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:131139000-131141400	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr8:131139000-131156000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr8:131139200-131141400	Strong transcription	NHLF	lung
45	chr8:131139200-131141800	Strong transcription	NHDF-Ad	bronchial
46	chr8:131139200-131142000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:131139200-131142600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr8:131139200-131146000	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr8:131139200-131146000	Weak transcription	Hela-S3	cervix
50	chr8:131139200-131146200	Strong transcription	Osteobl	bone

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