Variant report

Variant	rs7838845
Chromosome Location	chr8:42762503-42762504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:42760280..42764060-chr8:42770544..42773563,4	K562	blood:
2	chr8:42750904..42753819-chr8:42758473..42763299,6	MCF-7	breast:
3	chr8:42762186..42764110-chr8:42765641..42767378,2	K562	blood:
4	chr8:42761584..42764577-chr8:42775485..42778471,2	K562	blood:
5	chr8:42759920..42762712-chr8:42767781..42769964,2	K562	blood:
6	chr8:42761435..42764060-chr8:42771198..42773563,2	K562	blood:
7	chr8:42762265..42764358-chr8:42767215..42769143,2	MCF-7	breast:
8	chr8:42761212..42763212-chr8:42768042..42769964,2	K562	blood:

No data

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

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10453137	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1052654	0.81[MKK][hapmap]
rs11984488	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11984550	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11984732	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs11986255	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11987452	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11988102	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11988197	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11988227	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11988823	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11990369	0.89[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11991133	0.89[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11991458	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11992397	0.89[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11992567	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs11992660	0.86[EUR][1000 genomes]
rs11992682	0.89[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11993667	0.89[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs11994318	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11995473	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995810	0.85[EUR][1000 genomes]
rs11996604	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11997992	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13257298	0.81[MKK][hapmap]
rs17622134	0.90[EUR][1000 genomes]
rs17694846	0.86[EUR][1000 genomes]
rs2194902	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28799623	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34489103	1.00[CEU][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57363090	0.90[EUR][1000 genomes]
rs57797146	0.86[EUR][1000 genomes]
rs57986156	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58081556	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58384533	0.86[EUR][1000 genomes]
rs58641534	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs59164172	0.81[EUR][1000 genomes]
rs59177170	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59213790	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59531993	0.90[EUR][1000 genomes]
rs59805921	0.86[EUR][1000 genomes]
rs60443202	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60555023	0.81[EUR][1000 genomes]
rs61733908	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6651368	0.81[EUR][1000 genomes]
rs6651369	0.81[EUR][1000 genomes]
rs6999489	0.81[MKK][hapmap]
rs7004940	0.90[EUR][1000 genomes]
rs7008140	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7010367	0.81[EUR][1000 genomes]
rs7016659	0.89[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap]
rs73627229	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627242	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627249	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627252	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627261	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627273	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627274	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627276	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627278	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627280	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627282	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627288	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627294	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629103	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629110	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629152	0.81[EUR][1000 genomes]
rs73629156	0.81[EUR][1000 genomes]
rs73629161	0.81[EUR][1000 genomes]
rs73629163	0.81[EUR][1000 genomes]
rs73629177	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629179	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629182	0.81[EUR][1000 genomes]
rs73629190	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629192	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73634666	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73634670	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73634673	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73634677	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73634682	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73634696	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635313	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635316	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73635325	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635331	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635345	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635352	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635362	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635364	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635365	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635366	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635368	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635370	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820326	1.00[CEU][hapmap];0.90[EUR][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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42753600-42764400	Weak transcription	Placenta	Placenta
2	chr8:42753600-42764600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:42753600-42764600	Weak transcription	Lung	lung
4	chr8:42753600-42771000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:42753600-42771800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:42753600-42785800	Weak transcription	Esophagus	oesophagus
7	chr8:42754000-42763400	Weak transcription	HSMMtube	muscle
8	chr8:42754000-42764200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:42754000-42764600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:42754000-42768400	Weak transcription	Fetal Kidney	kidney
11	chr8:42754000-42769600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:42754000-42771000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:42754000-42771200	Weak transcription	Small Intestine	intestine
14	chr8:42754000-42771800	Weak transcription	Aorta	Aorta
15	chr8:42754000-42772000	Weak transcription	Colonic Mucosa	Colon
16	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
17	chr8:42754200-42764800	Weak transcription	NH-A	brain
18	chr8:42754200-42768000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:42754200-42771000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:42754200-42771400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:42754200-42775200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:42754400-42762600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:42754400-42762800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:42754400-42765200	Weak transcription	Osteobl	bone
25	chr8:42754400-42772000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:42754400-42806400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:42754600-42771600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:42754600-42772000	Weak transcription	Ovary	ovary
29	chr8:42754600-42781800	Weak transcription	Hela-S3	cervix
30	chr8:42754800-42764400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:42754800-42812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:42755000-42764000	Weak transcription	Brain Germinal Matrix	brain
33	chr8:42755000-42764600	Weak transcription	NHEK	skin
34	chr8:42755000-42766200	Weak transcription	Fetal Stomach	stomach
35	chr8:42755000-42787600	Weak transcription	Fetal Brain Male	brain
36	chr8:42755200-42762600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:42755400-42762600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:42755400-42765600	Weak transcription	Fetal Lung	lung
39	chr8:42755400-42765800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:42755800-42764800	Weak transcription	Liver	Liver
41	chr8:42755800-42785800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr8:42756000-42763200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr8:42756200-42763600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr8:42756200-42764600	Weak transcription	Fetal Brain Female	brain
45	chr8:42756200-42765600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:42756200-42775000	Weak transcription	Right Ventricle	heart
47	chr8:42756200-42775200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:42756400-42764400	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:42756400-42764400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr8:42756400-42768800	Weak transcription	Rectal Smooth Muscle	rectum

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