Variant report

Variant	rs10104642
Chromosome Location	chr8:48300780-48300781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48300186..48303081-chr8:48648494..48650857,2	MCF-7	breast:
2	chr8:48296590..48299380-chr8:48299721..48303188,4	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10090708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10090740	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs10094689	1.00[AFR][1000 genomes]
rs10105470	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs10110049	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10111833	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10111963	1.00[AMR][1000 genomes]
rs11989844	1.00[MEX][hapmap]
rs11993708	0.92[AFR][1000 genomes]
rs28382309	0.92[AFR][1000 genomes]
rs28393034	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap]
rs28408352	1.00[AFR][1000 genomes]
rs28439682	1.00[AMR][1000 genomes]
rs28533391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28587193	0.92[AFR][1000 genomes]
rs28812531	0.92[AFR][1000 genomes]
rs28897086	0.92[AFR][1000 genomes]
rs6989067	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6992748	1.00[AMR][1000 genomes]
rs6994360	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7003614	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7014936	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs7821542	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7823419	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs7831198	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9657080	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2758155	chr8:48188989-48321308	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759610	chr8:48188989-48321308	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1817304	chr8:48205314-48321308	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1018457	chr8:48289643-48321308	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48248800-48309600	Weak transcription	Thymus	Thymus
2	chr8:48262400-48309600	Weak transcription	Fetal Stomach	stomach
3	chr8:48278800-48309000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:48279000-48310200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:48280600-48311200	Weak transcription	Aorta	Aorta
6	chr8:48282200-48301200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:48282200-48311200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:48282200-48312200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:48282400-48321200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:48284200-48301000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:48290400-48311400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:48290800-48322200	Weak transcription	Liver	Liver
13	chr8:48290800-48347400	Weak transcription	HepG2	liver
14	chr8:48291400-48310000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:48291800-48309600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:48292000-48310800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:48293000-48312600	Weak transcription	Fetal Thymus	thymus
18	chr8:48293200-48315000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:48294000-48300800	Enhancers	HMEC	breast
20	chr8:48294400-48309400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:48294400-48309600	Weak transcription	Fetal Intestine Small	intestine
22	chr8:48294800-48309200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:48295800-48311200	Weak transcription	Lung	lung
24	chr8:48295800-48324400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:48296200-48300800	Enhancers	NHEK	skin
26	chr8:48296200-48308000	Weak transcription	NHDF-Ad	bronchial
27	chr8:48296200-48309200	Weak transcription	Fetal Intestine Large	intestine
28	chr8:48296800-48309600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr8:48297400-48301000	Weak transcription	K562	blood
30	chr8:48297400-48301800	Weak transcription	Psoas Muscle	Psoas
31	chr8:48297400-48310600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:48297400-48312400	Weak transcription	Left Ventricle	heart
33	chr8:48297600-48302600	Weak transcription	Small Intestine	intestine
34	chr8:48297600-48309800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:48298200-48301000	Weak transcription	HSMMtube	muscle
36	chr8:48298200-48302200	Weak transcription	Brain Anterior Caudate	brain
37	chr8:48298200-48303400	Weak transcription	Ovary	ovary
38	chr8:48298200-48305800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:48298200-48309000	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:48298200-48310200	Weak transcription	A549	lung
41	chr8:48298200-48310400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:48298200-48325600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:48298400-48301200	Weak transcription	Adipose Nuclei	Adipose
44	chr8:48298400-48305600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr8:48298400-48309600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:48298400-48310800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:48298400-48316400	Weak transcription	NHLF	lung
48	chr8:48298400-48325400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr8:48298600-48301000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:48298600-48308000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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