Variant report

Variant	rs6540545
Chromosome Location	chr1:209815843-209815844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209814818..209817682-chr1:209819640..209823452,3	MCF-7	breast:
2	chr1:209810766..209813605-chr1:209813693..209816208,2	K562	blood:
3	chr1:209799563..209802450-chr1:209813916..209816529,2	K562	blood:
4	chr1:209810174..209812266-chr1:209814708..209816997,2	K562	blood:
5	chr1:209813134..209815855-chr1:209819487..209823509,3	MCF-7	breast:
6	chr1:209800950..209802731-chr1:209813916..209816295,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10779510	0.83[EUR][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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209787400-209816200	Strong transcription	NHEK	skin
2	chr1:209801600-209818000	Weak transcription	Spleen	Spleen
3	chr1:209801600-209819800	Weak transcription	Lung	lung
4	chr1:209804400-209816600	Weak transcription	Small Intestine	intestine
5	chr1:209805400-209816200	Weak transcription	Esophagus	oesophagus
6	chr1:209808000-209816200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:209813200-209817400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:209814200-209821400	Enhancers	Fetal Muscle Trunk	muscle
9	chr1:209814200-209825000	Enhancers	Fetal Muscle Leg	muscle
10	chr1:209814400-209816400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr1:209814400-209818600	Enhancers	Fetal Stomach	stomach
12	chr1:209814400-209823200	Genic enhancers	Fetal Intestine Large	intestine
13	chr1:209814600-209816200	Enhancers	Right Atrium	heart
14	chr1:209814600-209817600	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr1:209814600-209817800	Enhancers	Brain Anterior Caudate	brain
16	chr1:209814600-209817800	Enhancers	Brain Hippocampus Middle	brain
17	chr1:209814600-209817800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:209814600-209818000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr1:209814600-209818200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:209814600-209818200	Enhancers	Brain Cingulate Gyrus	brain
21	chr1:209814600-209818200	Enhancers	Brain Substantia Nigra	brain
22	chr1:209814600-209818200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr1:209814600-209818600	Enhancers	Ovary	ovary
24	chr1:209814600-209818800	Enhancers	Fetal Kidney	kidney
25	chr1:209814600-209820600	Enhancers	Adipose Nuclei	Adipose
26	chr1:209814600-209820800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:209814600-209822400	Genic enhancers	Fetal Intestine Small	intestine
28	chr1:209814600-209823200	Enhancers	Fetal Heart	heart
29	chr1:209814600-209826800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:209814800-209816800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:209814800-209817400	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr1:209814800-209817600	Enhancers	Duodenum Mucosa	Duodenum
33	chr1:209814800-209817600	Enhancers	NHLF	lung
34	chr1:209814800-209817800	Enhancers	Brain Angular Gyrus	brain
35	chr1:209814800-209818400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:209814800-209818400	Enhancers	Left Ventricle	heart
37	chr1:209814800-209818400	Enhancers	Psoas Muscle	Psoas
38	chr1:209814800-209819400	Enhancers	Brain Germinal Matrix	brain
39	chr1:209814800-209819400	Strong transcription	Hela-S3	cervix
40	chr1:209814800-209820400	Enhancers	Placenta	Placenta
41	chr1:209814800-209821000	Enhancers	Fetal Brain Male	brain
42	chr1:209815000-209816400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:209815200-209816200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:209815200-209816200	Weak transcription	Right Ventricle	heart
45	chr1:209815200-209816200	Weak transcription	Osteobl	bone
46	chr1:209815200-209816400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:209815200-209816400	Weak transcription	HSMMtube	muscle
48	chr1:209815200-209816600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr1:209815200-209818000	Enhancers	Colon Smooth Muscle	Colon
50	chr1:209815200-209818000	Enhancers	Stomach Smooth Muscle	stomach

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