Variant report

Variant	rs59422998
Chromosome Location	chr8:48439936-48439937
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	chr8:48435225..48441849-chr8:48646333..48652657,17	MCF-7	breast:
2	chr8:48433892..48441630-chr8:48644198..48652247,18	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164808	Chromatin interaction
ENSG00000221869	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs16925237	1.00[AMR][1000 genomes]
rs16926041	1.00[AMR][1000 genomes]
rs16926621	1.00[AMR][1000 genomes]
rs16927308	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16927336	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2362918	1.00[AMR][1000 genomes]
rs56807775	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57210767	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57274985	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57398386	0.89[AFR][1000 genomes]
rs57659543	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58572522	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58592579	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58965290	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59053481	1.00[AMR][1000 genomes]
rs59337594	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59402950	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60256648	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61376238	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61519381	1.00[AMR][1000 genomes]
rs73565212	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565216	1.00[AMR][1000 genomes]
rs73565219	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565220	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565225	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565226	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565228	1.00[AMR][1000 genomes]
rs73565235	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565236	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565244	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565247	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565249	1.00[AMR][1000 genomes]
rs73565251	1.00[AMR][1000 genomes]
rs73565254	0.89[AFR][1000 genomes]
rs73565260	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565265	1.00[AMR][1000 genomes]
rs73565271	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565273	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565275	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565280	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565287	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565297	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565299	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567507	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567511	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567576	1.00[AMR][1000 genomes]
rs73567579	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567581	1.00[AMR][1000 genomes]
rs73567582	1.00[AMR][1000 genomes]
rs73567584	1.00[AMR][1000 genomes]
rs73567589	1.00[AMR][1000 genomes]
rs73567590	1.00[AMR][1000 genomes]
rs73567593	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567594	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567596	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567597	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569205	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569208	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569212	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569216	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569220	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569223	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569224	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569227	1.00[AMR][1000 genomes]
rs73571448	1.00[AMR][1000 genomes]
rs73571453	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571454	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571459	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571460	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571462	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571465	1.00[AMR][1000 genomes]
rs73571467	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571469	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582831	1.00[AMR][1000 genomes]
rs73582835	1.00[AMR][1000 genomes]
rs73582836	1.00[AMR][1000 genomes]
rs73582845	1.00[AMR][1000 genomes]
rs73582848	1.00[AMR][1000 genomes]
rs73582860	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582863	1.00[AMR][1000 genomes]
rs73582864	1.00[AMR][1000 genomes]
rs73582865	1.00[AMR][1000 genomes]
rs73582867	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7463108	1.00[AMR][1000 genomes]
rs751786	1.00[AMR][1000 genomes]
rs7818094	1.00[AMR][1000 genomes]
rs8178271	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48434000-48455400	Weak transcription	Primary T cells from cord blood	blood
2	chr8:48434200-48440000	Enhancers	Fetal Muscle Leg	muscle
3	chr8:48434400-48440200	Enhancers	Duodenum Mucosa	Duodenum
4	chr8:48434400-48444400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:48434600-48440000	Enhancers	Brain Anterior Caudate	brain
6	chr8:48434600-48440000	Enhancers	Brain Hippocampus Middle	brain
7	chr8:48434600-48440400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:48434800-48440000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:48434800-48440000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:48434800-48440000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:48434800-48440200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:48434800-48440400	Enhancers	Brain Cingulate Gyrus	brain
13	chr8:48434800-48440400	Enhancers	Fetal Intestine Large	intestine
14	chr8:48435000-48440000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:48435000-48440000	Enhancers	Fetal Intestine Small	intestine
16	chr8:48435000-48440000	Enhancers	Fetal Kidney	kidney
17	chr8:48435000-48440200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr8:48435200-48440200	Enhancers	Primary B cells from cord blood	blood
19	chr8:48435800-48440200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:48435800-48440400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr8:48436000-48440000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:48436400-48441400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr8:48436600-48440200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:48436600-48445400	Weak transcription	GM12878-XiMat	blood
25	chr8:48436800-48440000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:48437000-48440200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr8:48437000-48440400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:48437200-48440000	Enhancers	Colon Smooth Muscle	Colon
29	chr8:48437200-48441000	Weak transcription	Spleen	Spleen
30	chr8:48437400-48440400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr8:48437600-48440000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:48437600-48440000	Enhancers	HepG2	liver
33	chr8:48437600-48440000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr8:48437600-48440200	Enhancers	Adipose Nuclei	Adipose
35	chr8:48437600-48441400	Enhancers	Brain Substantia Nigra	brain
36	chr8:48437800-48440000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr8:48437800-48440400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr8:48437800-48440400	Enhancers	Pancreas	Pancrea
39	chr8:48437800-48441800	Enhancers	Small Intestine	intestine
40	chr8:48438000-48440000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:48438000-48440000	Enhancers	Lung	lung
42	chr8:48438000-48440200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:48438000-48444200	Weak transcription	NHEK	skin
44	chr8:48438000-48446400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:48438200-48440400	Enhancers	Right Atrium	heart
46	chr8:48438400-48440000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:48438400-48440000	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr8:48438400-48440000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr8:48438800-48452400	Weak transcription	HSMM	muscle
50	chr8:48439200-48440200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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