Variant report

Variant	rs55702696
Chromosome Location	chr5:126204334-126204335
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126203203..126206688-chr5:126207473..126211338,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARCH3-2	chr5:126203406-126205155	NONHSAT103601

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56074301	0.90[ASN][1000 genomes]
rs57029577	0.90[ASN][1000 genomes]
rs57147740	0.90[ASN][1000 genomes]
rs58045453	0.90[ASN][1000 genomes]
rs58690406	0.90[ASN][1000 genomes]
rs60046051	0.81[ASN][1000 genomes]
rs60135355	0.90[ASN][1000 genomes]
rs60475280	0.86[ASN][1000 genomes]
rs73783470	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]

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:76 , 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	chr5:126188600-126204400	Weak transcription	NH-A	brain
4	chr5:126188800-126204600	Weak transcription	NHLF	lung
5	chr5:126190400-126204400	Weak transcription	Primary B cells from cord blood	blood
6	chr5:126191400-126204600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:126191600-126204400	Weak transcription	Primary T cells from cord blood	blood
8	chr5:126191600-126204600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:126191600-126204600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr5:126194200-126204400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:126194200-126204600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:126194400-126208000	Weak transcription	Right Ventricle	heart
13	chr5:126194600-126204800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:126199800-126204600	Enhancers	Fetal Brain Male	brain
15	chr5:126200400-126204600	Weak transcription	Psoas Muscle	Psoas
16	chr5:126200400-126204800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:126200400-126205000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:126200400-126207800	Weak transcription	Dnd41	blood
19	chr5:126201000-126204400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:126201000-126204600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr5:126201200-126204400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:126201200-126204600	Weak transcription	NHDF-Ad	bronchial
23	chr5:126201600-126204600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:126201600-126204600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:126201600-126204600	Weak transcription	Osteobl	bone
26	chr5:126201600-126204800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:126201600-126204800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:126201800-126204400	Weak transcription	HSMMtube	muscle
29	chr5:126201800-126204600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:126201800-126253400	Weak transcription	A549	lung
31	chr5:126202000-126204600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:126202000-126204800	Enhancers	Fetal Muscle Leg	muscle
33	chr5:126202600-126204600	Enhancers	Adipose Nuclei	Adipose
34	chr5:126202600-126204600	Enhancers	Fetal Muscle Trunk	muscle
35	chr5:126202800-126204400	Enhancers	Fetal Brain Female	brain
36	chr5:126202800-126204800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:126203000-126205200	Enhancers	Spleen	Spleen
38	chr5:126203200-126204400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr5:126203200-126204600	Weak transcription	Lung	lung
40	chr5:126203200-126204800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:126203400-126204400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:126203400-126204600	Weak transcription	Fetal Intestine Small	intestine
43	chr5:126203400-126204600	Weak transcription	Left Ventricle	heart
44	chr5:126203400-126210800	Weak transcription	Right Atrium	heart
45	chr5:126203600-126204600	Weak transcription	HUVEC	blood vessel
46	chr5:126203600-126210400	Weak transcription	Fetal Heart	heart
47	chr5:126203800-126204400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr5:126203800-126204600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr5:126203800-126204600	Enhancers	Fetal Thymus	thymus
50	chr5:126204000-126204400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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