Variant report

Variant	rs141129523
Chromosome Location	chr1:192783297-192783298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192776654..192780262-chr1:192782251..192786802,5	K562	blood:
2	chr1:192780407..192783864-chr1:192784307..192789259,8	K562	blood:

Variant related genes	Relation type
ENSG00000116741	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192779000-192784800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:192779200-192783800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:192779400-192790800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:192779600-192783400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:192779600-192793200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:192779800-192783600	Weak transcription	NHEK	skin
7	chr1:192779800-192784800	Weak transcription	Ovary	ovary
8	chr1:192779800-192786400	Weak transcription	Small Intestine	intestine
9	chr1:192780000-192784200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:192780800-192786000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:192781000-192783400	Weak transcription	HMEC	breast
12	chr1:192781000-192795000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:192781200-192783400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:192781200-192783600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:192781200-192783800	Weak transcription	A549	lung
16	chr1:192781200-192784200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:192781200-192784200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:192781200-192784400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:192781200-192784400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:192781200-192791200	Weak transcription	Fetal Brain Male	brain
21	chr1:192781400-192783600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:192781400-192783600	Weak transcription	Adipose Nuclei	Adipose
23	chr1:192781400-192783600	Weak transcription	HSMM	muscle
24	chr1:192781400-192783800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:192781400-192783800	Weak transcription	NH-A	brain
26	chr1:192781400-192784400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:192781400-192785200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:192781400-192785600	Weak transcription	HUVEC	blood vessel
29	chr1:192781400-192786400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:192781400-192803400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:192781600-192784800	Weak transcription	Osteobl	bone
32	chr1:192781600-192785600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:192781800-192783600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:192781800-192784200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:192781800-192785800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:192781800-192795200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:192782000-192783600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:192782000-192785400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:192782000-192785600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:192782000-192785800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:192782000-192785800	Weak transcription	Fetal Lung	lung
42	chr1:192782000-192786200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:192782000-192794400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:192782200-192783400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr1:192782200-192784800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr1:192783200-192784600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr1:192783200-192785800	Weak transcription	Colon Smooth Muscle	Colon

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