Variant report

Variant	rs4656296
Chromosome Location	chr1:161289249-161289250
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:161289099-161289271	K562	blood:	n/a	n/a
2	POLR2A	chr1:161289227-161289542	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:161288250..161291454-chr1:161322808..161325923,3	MCF-7	breast:
2	chr1:161288348..161289973-chr1:161298719..161301055,2	K562	blood:
3	chr1:161284338..161286990-chr1:161287610..161289670,3	MCF-7	breast:

Variant related genes	Relation type
SDHC	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11577663	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578160	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11579939	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580931	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583870	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584714	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585941	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16832847	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16832849	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832911	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832913	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832945	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4272646	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427589	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714971	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72714973	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714981	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714982	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714983	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72714985	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715002	0.96[AMR][1000 genomes]
rs7519821	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7538701	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9793329	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1010776	chr1:161282384-161409218	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161284800-161293600	Weak transcription	Small Intestine	intestine
2	chr1:161284800-161295000	Weak transcription	Spleen	Spleen
3	chr1:161284800-161300400	Weak transcription	Aorta	Aorta
4	chr1:161285000-161293400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:161285000-161295600	Weak transcription	Gastric	stomach
6	chr1:161285000-161296600	Weak transcription	Colonic Mucosa	Colon
7	chr1:161285000-161298400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:161285000-161301800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:161285200-161289400	Weak transcription	Thymus	Thymus
10	chr1:161285200-161293400	Weak transcription	Fetal Brain Female	brain
11	chr1:161285200-161293800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:161285200-161293800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:161285200-161293800	Weak transcription	Adipose Nuclei	Adipose
14	chr1:161285200-161293800	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:161285200-161293800	Weak transcription	Fetal Thymus	thymus
16	chr1:161285200-161295400	Weak transcription	Primary B cells from cord blood	blood
17	chr1:161285200-161295400	Weak transcription	Brain Substantia Nigra	brain
18	chr1:161285200-161295400	Weak transcription	Fetal Kidney	kidney
19	chr1:161285200-161295400	Weak transcription	Right Ventricle	heart
20	chr1:161285200-161299200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:161285200-161321400	Weak transcription	Stomach Mucosa	stomach
22	chr1:161285400-161289400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:161285400-161289600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:161285400-161293200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr1:161285400-161293200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:161285400-161293200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:161285400-161293400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:161285400-161293800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:161285400-161293800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:161285400-161293800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:161285400-161293800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:161285400-161293800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:161285400-161293800	Weak transcription	Brain Angular Gyrus	brain
34	chr1:161285400-161293800	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:161285400-161293800	Weak transcription	Fetal Lung	lung
36	chr1:161285400-161293800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:161285400-161293800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:161285400-161293800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:161285400-161294600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:161285400-161294600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:161285400-161295200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:161285400-161295400	Weak transcription	Primary T cells from cord blood	blood
43	chr1:161285400-161295400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:161285400-161295400	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:161285400-161295400	Weak transcription	A549	lung
46	chr1:161285400-161295800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:161285400-161296800	Weak transcription	HSMMtube	muscle
48	chr1:161285400-161298200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:161285400-161298400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr1:161285400-161299800	Weak transcription	Psoas Muscle	Psoas

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