Variant report

Variant	rs60435775
Chromosome Location	chr8:68078911-68078912
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:68074799..68076714-chr8:68078840..68080441,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11985129	1.00[AMR][1000 genomes]
rs11987016	1.00[AMR][1000 genomes]
rs11987703	1.00[AMR][1000 genomes]
rs11988493	1.00[AMR][1000 genomes]
rs11991444	1.00[AMR][1000 genomes]
rs11991868	1.00[AMR][1000 genomes]
rs11995086	1.00[AMR][1000 genomes]
rs11995838	1.00[AMR][1000 genomes]
rs11996976	1.00[AMR][1000 genomes]
rs16933261	1.00[AMR][1000 genomes]
rs35871529	1.00[AMR][1000 genomes]
rs55773727	1.00[AMR][1000 genomes]
rs55890263	1.00[AMR][1000 genomes]
rs55908156	1.00[AMR][1000 genomes]
rs56115531	1.00[AMR][1000 genomes]
rs56171881	1.00[AMR][1000 genomes]
rs56322915	1.00[AMR][1000 genomes]
rs56675350	1.00[AMR][1000 genomes]
rs56946170	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58005291	1.00[AMR][1000 genomes]
rs60303565	1.00[AMR][1000 genomes]
rs60452538	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6987385	1.00[AMR][1000 genomes]
rs73691150	1.00[AMR][1000 genomes]
rs73691154	1.00[AMR][1000 genomes]
rs73691155	1.00[AMR][1000 genomes]
rs73691160	1.00[AMR][1000 genomes]
rs73691181	1.00[AMR][1000 genomes]
rs73691184	1.00[AMR][1000 genomes]
rs73691320	1.00[AMR][1000 genomes]
rs73691326	1.00[AMR][1000 genomes]
rs73691328	1.00[AMR][1000 genomes]
rs73691329	1.00[AMR][1000 genomes]
rs73693108	1.00[AMR][1000 genomes]
rs73693123	1.00[AMR][1000 genomes]
rs73693157	1.00[AMR][1000 genomes]
rs73693186	1.00[AMR][1000 genomes]
rs73693633	1.00[AMR][1000 genomes]
rs7815796	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7815839	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7820540	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1022561	chr8:68011159-68129755	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1024156	chr8:68018110-68130602	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539640	chr8:68018110-68130602	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1016128	chr8:68019177-68129755	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1028249	chr8:68022357-68127243	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1029236	chr8:68022357-68129755	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1020062	chr8:68022357-68135111	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv1025996	chr8:68025803-68129755	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv1019276	chr8:68026084-68130602	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv539641	chr8:68026084-68130602	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv1026508	chr8:68038761-68135111	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 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	chr8:67993400-68085000	Weak transcription	Aorta	Aorta
2	chr8:68022800-68090800	Weak transcription	Small Intestine	intestine
3	chr8:68024200-68092400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:68060800-68087000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:68066800-68079600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:68070000-68079200	Strong transcription	Fetal Intestine Large	intestine
7	chr8:68070600-68091200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:68071200-68079000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:68071600-68079000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:68073000-68079000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:68073200-68079000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:68073200-68079000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr8:68073400-68079000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:68073400-68079000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:68073400-68079000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr8:68073400-68079200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:68073400-68079200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr8:68073800-68079000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:68073800-68079000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:68074000-68079000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:68074000-68079000	Strong transcription	Primary hematopoietic stem cells	blood
22	chr8:68074000-68079000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:68074000-68079000	Strong transcription	Placenta	Placenta
24	chr8:68074400-68079600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:68074400-68079800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:68074600-68079000	Strong transcription	Hela-S3	cervix
27	chr8:68074800-68106200	Weak transcription	Colonic Mucosa	Colon
28	chr8:68075000-68084400	Weak transcription	Osteobl	bone
29	chr8:68075000-68107200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr8:68075200-68087600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:68075200-68136800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:68075400-68080200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:68075400-68102200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr8:68075400-68104600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr8:68075600-68079000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:68075600-68079400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:68075600-68081600	Weak transcription	Fetal Stomach	stomach
38	chr8:68075600-68087600	Weak transcription	Fetal Heart	heart
39	chr8:68075600-68087600	Weak transcription	Gastric	stomach
40	chr8:68075600-68102800	Weak transcription	Psoas Muscle	Psoas
41	chr8:68075800-68087600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:68075800-68087600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:68075800-68110800	Weak transcription	HepG2	liver
44	chr8:68075800-68112200	Weak transcription	Stomach Mucosa	stomach
45	chr8:68076000-68103000	Weak transcription	NHDF-Ad	bronchial
46	chr8:68076000-68107000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr8:68076200-68087200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr8:68076200-68087200	Weak transcription	NHEK	skin
49	chr8:68076400-68087200	Weak transcription	Lung	lung
50	chr8:68076400-68087600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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