Variant report

Variant	rs73635347
Chromosome Location	chr8:42769428-42769429
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:42761212..42763212-chr8:42768042..42769964,2	K562	blood:
2	chr8:42759920..42762712-chr8:42767781..42769964,2	K562	blood:
3	chr8:42747701..42749680-chr8:42768720..42771616,2	K562	blood:
4	chr8:42768008..42770411-chr8:42777063..42779010,3	K562	blood:
5	chr8:42768008..42769709-chr8:42777234..42779010,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11987761	1.00[AFR][1000 genomes]
rs11988193	0.93[AFR][1000 genomes]
rs11989986	1.00[AFR][1000 genomes]
rs11990955	0.93[AFR][1000 genomes]
rs11993252	0.86[AFR][1000 genomes]
rs11993799	1.00[AFR][1000 genomes]
rs11995127	1.00[AFR][1000 genomes]
rs35349171	1.00[AFR][1000 genomes]
rs58577394	0.93[AFR][1000 genomes]
rs59523223	0.93[AFR][1000 genomes]
rs60389831	0.93[AFR][1000 genomes]
rs73627236	0.86[AFR][1000 genomes]
rs73634630	0.86[AFR][1000 genomes]
rs73634647	0.93[AFR][1000 genomes]
rs73634656	1.00[AFR][1000 genomes]
rs73634693	0.93[AFR][1000 genomes]
rs73634694	0.93[AFR][1000 genomes]
rs73634697	1.00[AFR][1000 genomes]
rs73634702	1.00[AFR][1000 genomes]
rs73635307	1.00[AFR][1000 genomes]
rs73635310	0.93[AFR][1000 genomes]
rs73635330	1.00[AFR][1000 genomes]
rs73635337	1.00[AFR][1000 genomes]
rs73635339	0.93[AFR][1000 genomes]
rs73635342	0.93[AFR][1000 genomes]
rs73635343	1.00[AFR][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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42753600-42771000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:42753600-42771800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:42753600-42785800	Weak transcription	Esophagus	oesophagus
4	chr8:42754000-42769600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:42754000-42771000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:42754000-42771200	Weak transcription	Small Intestine	intestine
7	chr8:42754000-42771800	Weak transcription	Aorta	Aorta
8	chr8:42754000-42772000	Weak transcription	Colonic Mucosa	Colon
9	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
10	chr8:42754200-42771000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:42754200-42771400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:42754200-42775200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:42754400-42772000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:42754400-42806400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:42754600-42771600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:42754600-42772000	Weak transcription	Ovary	ovary
17	chr8:42754600-42781800	Weak transcription	Hela-S3	cervix
18	chr8:42754800-42812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:42755000-42787600	Weak transcription	Fetal Brain Male	brain
20	chr8:42755800-42785800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr8:42756200-42775000	Weak transcription	Right Ventricle	heart
22	chr8:42756200-42775200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:42756400-42771000	Weak transcription	Left Ventricle	heart
24	chr8:42756400-42771200	Weak transcription	Right Atrium	heart
25	chr8:42756400-42771800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:42757200-42772000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:42757400-42770400	Weak transcription	Psoas Muscle	Psoas
28	chr8:42757600-42775000	Weak transcription	Fetal Heart	heart
29	chr8:42758200-42771600	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:42758200-42775400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:42758400-42771400	Weak transcription	Colon Smooth Muscle	Colon
32	chr8:42759400-42771000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:42759400-42771800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:42759800-42781400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:42760800-42771200	Weak transcription	Brain Angular Gyrus	brain
36	chr8:42760800-42775400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:42761200-42770400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:42761200-42770400	Strong transcription	Dnd41	blood
39	chr8:42761200-42772600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr8:42761400-42769600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:42761400-42771000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr8:42761600-42770400	Strong transcription	Primary B cells from cord blood	blood
43	chr8:42761600-42772800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:42761800-42769800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:42761800-42772000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:42762000-42770400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:42762800-42775400	Weak transcription	HMEC	breast
48	chr8:42763200-42769800	Strong transcription	Primary T cells from cord blood	blood
49	chr8:42764400-42770600	Strong transcription	Fetal Muscle Leg	muscle
50	chr8:42764800-42771400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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