Variant report

Variant	rs575625536
Chromosome Location	chr1:10585408-10585409
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10585162..10588309-chr1:10589608..10593566,5	K562	blood:
2	chr1:10576515..10578710-chr1:10584102..10586640,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv2521	chr1:10553530-10598171	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv545395	chr1:10584672-10613660	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10570800-10595600	Weak transcription	Primary B cells from cord blood	blood
2	chr1:10572000-10590000	Weak transcription	Spleen	Spleen
3	chr1:10572200-10598600	Weak transcription	Brain Anterior Caudate	brain
4	chr1:10572600-10587600	Weak transcription	Hela-S3	cervix
5	chr1:10572600-10587800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:10573400-10596000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:10573800-10588000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:10573800-10588200	Weak transcription	Fetal Intestine Large	intestine
9	chr1:10575600-10588000	Weak transcription	NHLF	lung
10	chr1:10576000-10589200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:10576400-10596000	Weak transcription	Dnd41	blood
12	chr1:10577000-10603600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:10577400-10587800	Weak transcription	Pancreas	Pancrea
14	chr1:10577400-10587800	Weak transcription	Right Atrium	heart
15	chr1:10577400-10587800	Weak transcription	HSMM	muscle
16	chr1:10577400-10588000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:10577400-10588000	Weak transcription	Lung	lung
18	chr1:10577400-10588000	Weak transcription	NHDF-Ad	bronchial
19	chr1:10577400-10596400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:10577600-10588000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:10577600-10588400	Weak transcription	Adipose Nuclei	Adipose
22	chr1:10577800-10587800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:10577800-10587800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:10577800-10590800	Weak transcription	Fetal Thymus	thymus
25	chr1:10578000-10587800	Weak transcription	HMEC	breast
26	chr1:10578000-10588000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:10578200-10587800	Weak transcription	NHEK	skin
28	chr1:10578200-10588400	Weak transcription	Fetal Kidney	kidney
29	chr1:10578200-10589800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:10578400-10590600	Weak transcription	Placenta	Placenta
31	chr1:10579400-10589200	Weak transcription	Gastric	stomach
32	chr1:10579400-10610200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:10579600-10587800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:10579600-10587800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:10579600-10587800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:10579600-10587800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:10579600-10587800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:10579600-10588000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:10579600-10590000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:10579600-10596200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:10579800-10587000	Weak transcription	Left Ventricle	heart
42	chr1:10579800-10587600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:10579800-10587600	Weak transcription	A549	lung
44	chr1:10579800-10587800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:10579800-10587800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:10579800-10588000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:10579800-10588000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr1:10579800-10588000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:10579800-10588000	Weak transcription	Esophagus	oesophagus
50	chr1:10579800-10588000	Weak transcription	HSMMtube	muscle

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