Variant report

Variant	rs7541519
Chromosome Location	chr1:59284070-59284071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:59243405..59253875-chr1:59275011..59289058,45	MCF-7	breast:
2	chr1:59279921..59284497-chr1:59286325..59289409,4	K562	blood:
3	chr1:59279591..59281416-chr1:59282634..59284464,2	MCF-7	breast:
4	chr1:59283313..59285516-chr1:59290081..59292276,2	K562	blood:
5	chr1:59283326..59286068-chr1:59299643..59302569,3	K562	blood:
6	chr1:59271833..59274083-chr1:59283386..59285581,2	K562	blood:
7	chr1:59279457..59282981-chr1:59283687..59286487,4	K562	blood:
8	chr1:59258641..59262017-chr1:59281438..59284393,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction
ENSG00000234807	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10889120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1923943	1.00[AFR][1000 genomes]
rs6656813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59282400-59284200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:59282400-59284400	Enhancers	HSMM	muscle
3	chr1:59282400-59284600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:59282400-59284600	Enhancers	HMEC	breast
5	chr1:59282400-59285000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:59282400-59285000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:59282400-59285800	Enhancers	NHEK	skin
8	chr1:59282400-59286000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:59282400-59286000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:59282400-59286000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:59282400-59287000	Weak transcription	Esophagus	oesophagus
12	chr1:59282400-59289200	Weak transcription	Placenta	Placenta
13	chr1:59282400-59289800	Weak transcription	Gastric	stomach
14	chr1:59282400-59290200	Weak transcription	Lung	lung
15	chr1:59282400-59290400	Weak transcription	Pancreas	Pancrea
16	chr1:59282400-59293800	Weak transcription	Aorta	Aorta
17	chr1:59282600-59285200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:59282600-59285800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:59282600-59285800	Enhancers	NH-A	brain
20	chr1:59282600-59285800	Enhancers	NHDF-Ad	bronchial
21	chr1:59282600-59285800	Enhancers	NHLF	lung
22	chr1:59282600-59285800	Enhancers	Osteobl	bone
23	chr1:59282600-59286000	Enhancers	HUVEC	blood vessel
24	chr1:59282600-59287000	Weak transcription	Left Ventricle	heart
25	chr1:59282600-59288800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:59282600-59290200	Weak transcription	Ovary	ovary
27	chr1:59282600-59290200	Weak transcription	Right Atrium	heart
28	chr1:59282600-59290200	Weak transcription	Right Ventricle	heart
29	chr1:59282800-59285000	Weak transcription	Fetal Intestine Small	intestine
30	chr1:59282800-59285200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:59282800-59285400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:59282800-59285400	Weak transcription	Fetal Intestine Large	intestine
33	chr1:59282800-59285800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:59282800-59285800	Weak transcription	Fetal Heart	heart
35	chr1:59282800-59288600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:59282800-59288800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:59282800-59289000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:59282800-59289600	Weak transcription	Small Intestine	intestine
39	chr1:59282800-59290200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:59283000-59284800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr1:59283000-59285000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr1:59283000-59285200	Weak transcription	HepG2	liver
43	chr1:59283000-59285400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:59283000-59285600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:59283000-59285600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:59283000-59289200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:59283000-59290400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:59283000-59291800	Weak transcription	Primary T cells from cord blood	blood
49	chr1:59283200-59284200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr1:59283200-59284200	Weak transcription	Stomach Mucosa	stomach

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