Variant report

Variant	rs622646
Chromosome Location	chr10:116157264-116157265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:116151670..116155313-chr10:116155442..116158491,3	MCF-7	breast:
2	chr10:116154812..116157671-chr10:116168139..116169677,2	MCF-7	breast:
3	chr10:116152376..116153916-chr10:116156316..116158641,2	K562	blood:
4	chr10:116151729..116154077-chr10:116154696..116157816,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11196728	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11196738	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11196750	0.91[CEU][hapmap]
rs12354693	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12354943	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12355335	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12356147	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12357098	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12359269	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12573832	0.91[CEU][hapmap]
rs17406965	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41293058	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs475150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs605654	1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61868314	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61868324	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs622320	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6585277	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6585283	0.90[CEU][hapmap]
rs7069926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7899139	0.83[JPT][hapmap]
rs7900888	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7910088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7916374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7916796	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs941855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9665297	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[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	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116134000-116157600	Weak transcription	Colonic Mucosa	Colon
2	chr10:116149000-116160000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr10:116151600-116158400	Enhancers	GM12878-XiMat	blood
4	chr10:116151800-116162600	Weak transcription	Lung	lung
5	chr10:116152800-116158800	Enhancers	Rectal Smooth Muscle	rectum
6	chr10:116153200-116162600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:116153600-116157400	Weak transcription	Fetal Kidney	kidney
8	chr10:116154000-116159200	Enhancers	Spleen	Spleen
9	chr10:116154200-116161200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:116154600-116157600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:116154800-116157400	Weak transcription	Esophagus	oesophagus
12	chr10:116155200-116157400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:116155200-116157600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr10:116155600-116157400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:116155600-116158200	Genic enhancers	NHEK	skin
16	chr10:116155600-116158400	Weak transcription	Right Ventricle	heart
17	chr10:116155800-116157400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:116155800-116157400	Weak transcription	Brain Angular Gyrus	brain
19	chr10:116155800-116157600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr10:116155800-116157600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr10:116156200-116158800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:116156200-116161000	Enhancers	Fetal Lung	lung
23	chr10:116156400-116158400	Enhancers	Fetal Stomach	stomach
24	chr10:116156600-116157600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr10:116156600-116157600	Bivalent Enhancer	Small Intestine	intestine
26	chr10:116156600-116157800	Enhancers	HSMM	muscle
27	chr10:116156600-116159600	Enhancers	Duodenum Mucosa	Duodenum
28	chr10:116156600-116159600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr10:116156800-116157400	Active TSS	NHDF-Ad	bronchial
30	chr10:116156800-116157600	Active TSS	Colon Smooth Muscle	Colon
31	chr10:116156800-116157600	Weak transcription	Pancreas	Pancrea
32	chr10:116156800-116157800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:116156800-116158400	Enhancers	Fetal Muscle Trunk	muscle
34	chr10:116156800-116162200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr10:116157000-116157400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:116157000-116157400	Active TSS	Adipose Nuclei	Adipose
37	chr10:116157000-116157400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
38	chr10:116157000-116157400	Bivalent Enhancer	Brain Substantia Nigra	brain
39	chr10:116157000-116157400	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr10:116157000-116157400	Active TSS	Ovary	ovary
41	chr10:116157000-116157400	Active TSS	Right Atrium	heart
42	chr10:116157000-116157400	Active TSS	Stomach Smooth Muscle	stomach
43	chr10:116157000-116157400	Bivalent/Poised TSS	Osteobl	bone
44	chr10:116157000-116157600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr10:116157000-116157600	Flanking Active TSS	HSMMtube	muscle
46	chr10:116157000-116157800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr10:116157000-116157800	Flanking Active TSS	HMEC	breast
48	chr10:116157000-116158200	Enhancers	Stomach Mucosa	stomach
49	chr10:116157000-116158800	Enhancers	Fetal Thymus	thymus
50	chr10:116157200-116157600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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