Variant report

Variant	rs73635339
Chromosome Location	chr8:42756635-42756636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:42748541..42754167-chr8:42754925..42760508,9	MCF-7	breast:
2	chr8:42753832..42756744-chr8:42758263..42760158,2	MCF-7	breast:
3	chr8:42754284..42756686-chr8:42946853..42949071,2	K562	blood:
4	chr8:42755430..42757065-chr8:42759918..42762355,2	K562	blood:

Variant related genes	Relation type
ENSG00000266044	Chromatin interaction
ENSG00000168172	Chromatin interaction
ENSG00000185900	Chromatin interaction
ENSG00000120925	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11987761	0.93[AFR][1000 genomes]
rs11988193	0.86[AFR][1000 genomes]
rs11989986	0.93[AFR][1000 genomes]
rs11990955	1.00[AFR][1000 genomes]
rs11993252	0.93[AFR][1000 genomes]
rs11993799	0.93[AFR][1000 genomes]
rs11995127	0.93[AFR][1000 genomes]
rs35349171	0.93[AFR][1000 genomes]
rs58577394	1.00[AFR][1000 genomes]
rs59122469	0.85[AFR][1000 genomes]
rs59287971	0.85[AFR][1000 genomes]
rs59523223	1.00[AFR][1000 genomes]
rs60389831	0.86[AFR][1000 genomes]
rs73627236	0.93[AFR][1000 genomes]
rs73627289	0.85[AFR][1000 genomes]
rs73627301	0.82[AFR][1000 genomes]
rs73629105	0.82[AFR][1000 genomes]
rs73634620	0.85[AFR][1000 genomes]
rs73634630	0.92[AFR][1000 genomes]
rs73634647	1.00[AFR][1000 genomes]
rs73634656	0.93[AFR][1000 genomes]
rs73634693	1.00[AFR][1000 genomes]
rs73634694	1.00[AFR][1000 genomes]
rs73634697	0.93[AFR][1000 genomes]
rs73634702	0.93[AFR][1000 genomes]
rs73635307	0.93[AFR][1000 genomes]
rs73635310	1.00[AFR][1000 genomes]
rs73635330	0.93[AFR][1000 genomes]
rs73635337	0.93[AFR][1000 genomes]
rs73635342	1.00[AFR][1000 genomes]
rs73635343	0.93[AFR][1000 genomes]
rs73635347	0.93[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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42753600-42757200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:42753600-42757400	Weak transcription	Pancreas	Pancrea
3	chr8:42753600-42761800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:42753600-42764400	Weak transcription	Placenta	Placenta
5	chr8:42753600-42764600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:42753600-42764600	Weak transcription	Lung	lung
7	chr8:42753600-42771000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:42753600-42771800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:42753600-42785800	Weak transcription	Esophagus	oesophagus
10	chr8:42754000-42757600	Weak transcription	Fetal Intestine Small	intestine
11	chr8:42754000-42757600	Weak transcription	Stomach Mucosa	stomach
12	chr8:42754000-42757800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:42754000-42761400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:42754000-42763400	Weak transcription	HSMMtube	muscle
15	chr8:42754000-42764200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr8:42754000-42764600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:42754000-42768400	Weak transcription	Fetal Kidney	kidney
18	chr8:42754000-42769600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:42754000-42771000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:42754000-42771200	Weak transcription	Small Intestine	intestine
21	chr8:42754000-42771800	Weak transcription	Aorta	Aorta
22	chr8:42754000-42772000	Weak transcription	Colonic Mucosa	Colon
23	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
24	chr8:42754200-42756800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr8:42754200-42757600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:42754200-42757800	Enhancers	Colon Smooth Muscle	Colon
27	chr8:42754200-42757800	Weak transcription	Fetal Intestine Large	intestine
28	chr8:42754200-42762000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr8:42754200-42762400	Weak transcription	HMEC	breast
30	chr8:42754200-42764800	Weak transcription	NH-A	brain
31	chr8:42754200-42768000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:42754200-42771000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:42754200-42771400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:42754200-42775200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:42754400-42757200	Enhancers	NHLF	lung
36	chr8:42754400-42762600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:42754400-42762800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr8:42754400-42765200	Weak transcription	Osteobl	bone
39	chr8:42754400-42772000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:42754400-42806400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:42754600-42757200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:42754600-42761200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:42754600-42761600	Weak transcription	Primary B cells from cord blood	blood
44	chr8:42754600-42761600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:42754600-42762400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr8:42754600-42771600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:42754600-42772000	Weak transcription	Ovary	ovary
48	chr8:42754600-42781800	Weak transcription	Hela-S3	cervix
49	chr8:42754800-42756800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:42754800-42757200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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