Variant report

Variant	rs71587927
Chromosome Location	chr5:126202741-126202742
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126201240..126202876-chr5:126283955..126286881,2	K562	blood:
2	chr5:126165049..126167558-chr5:126199870..126202749,2	K562	blood:
3	chr5:126196960..126198923-chr5:126200721..126203078,3	K562	blood:
4	chr5:126188650..126191093-chr5:126200738..126202976,2	K562	blood:
5	chr5:126201588..126204262-chr5:126365462..126367986,2	K562	blood:
6	chr5:126202154..126203859-chr5:126205061..126207137,2	K562	blood:

Variant related genes	Relation type
ENSG00000173926	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases
3	esv3330842	chr5:126201653-126205751	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126158000-126204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:126183600-126210400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:126188200-126203400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:126188600-126204400	Weak transcription	NH-A	brain
5	chr5:126188800-126204600	Weak transcription	NHLF	lung
6	chr5:126190000-126203800	Weak transcription	Fetal Thymus	thymus
7	chr5:126190400-126204400	Weak transcription	Primary B cells from cord blood	blood
8	chr5:126190800-126203000	Weak transcription	Spleen	Spleen
9	chr5:126191400-126204600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:126191600-126204400	Weak transcription	Primary T cells from cord blood	blood
11	chr5:126191600-126204600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:126191600-126204600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:126194200-126204000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:126194200-126204200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:126194200-126204400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:126194200-126204600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:126194400-126202800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:126194400-126204000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:126194400-126204200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:126194400-126208000	Weak transcription	Right Ventricle	heart
21	chr5:126194600-126202800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:126194600-126204200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:126194600-126204800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:126199800-126204600	Enhancers	Fetal Brain Male	brain
25	chr5:126200200-126204000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:126200400-126202800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr5:126200400-126203000	Weak transcription	K562	blood
28	chr5:126200400-126203800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr5:126200400-126204600	Weak transcription	Psoas Muscle	Psoas
30	chr5:126200400-126204800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:126200400-126205000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:126200400-126207800	Weak transcription	Dnd41	blood
33	chr5:126201000-126203000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr5:126201000-126204400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:126201000-126204600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr5:126201200-126204000	Weak transcription	Thymus	Thymus
37	chr5:126201200-126204400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:126201200-126204600	Weak transcription	NHDF-Ad	bronchial
39	chr5:126201600-126203000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr5:126201600-126203200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:126201600-126204200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:126201600-126204200	Weak transcription	HSMM	muscle
43	chr5:126201600-126204600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:126201600-126204600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr5:126201600-126204600	Weak transcription	Osteobl	bone
46	chr5:126201600-126204800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:126201600-126204800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:126201800-126204400	Weak transcription	HSMMtube	muscle
49	chr5:126201800-126204600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:126201800-126253400	Weak transcription	A549	lung

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