Variant report

Variant	rs34150806
Chromosome Location	chr5:126206303-126206304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126202154..126203859-chr5:126205061..126207137,2	K562	blood:
2	chr5:126204703..126206861-chr5:126208069..126211338,4	K562	blood:
3	chr5:126203203..126206688-chr5:126207473..126211338,4	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13163601	0.86[AFR][1000 genomes]
rs2240800	0.86[AFR][1000 genomes]
rs3828668	0.86[AFR][1000 genomes]
rs9637916	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126183600-126210400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:126194400-126208000	Weak transcription	Right Ventricle	heart
3	chr5:126200400-126207800	Weak transcription	Dnd41	blood
4	chr5:126201800-126253400	Weak transcription	A549	lung
5	chr5:126203400-126210800	Weak transcription	Right Atrium	heart
6	chr5:126203600-126210400	Weak transcription	Fetal Heart	heart
7	chr5:126204000-126210800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:126204200-126206400	Weak transcription	K562	blood
9	chr5:126205000-126212800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:126205000-126214000	Weak transcription	Pancreas	Pancrea
11	chr5:126205200-126207000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:126205200-126207400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:126205200-126208000	Weak transcription	Ovary	ovary
14	chr5:126205200-126208000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:126205200-126208400	Weak transcription	Fetal Kidney	kidney
16	chr5:126205200-126210400	Weak transcription	Placenta	Placenta
17	chr5:126205200-126210400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:126205200-126210400	Weak transcription	Spleen	Spleen
19	chr5:126205200-126210800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:126205200-126210800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:126205200-126214400	Weak transcription	Psoas Muscle	Psoas
22	chr5:126205200-126216200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:126205200-126219200	Weak transcription	Osteobl	bone
24	chr5:126205200-126245600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr5:126205400-126206600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:126205400-126206800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:126205400-126207000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr5:126205400-126212200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr5:126205400-126212600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr5:126205400-126212600	Weak transcription	HUVEC	blood vessel
31	chr5:126205400-126214000	Weak transcription	Adipose Nuclei	Adipose
32	chr5:126205400-126214200	Enhancers	Fetal Brain Male	brain
33	chr5:126205400-126215000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:126205400-126217200	Weak transcription	Brain Anterior Caudate	brain
35	chr5:126205400-126219200	Weak transcription	Brain Substantia Nigra	brain
36	chr5:126205400-126219600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:126205400-126220200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:126205400-126220800	Weak transcription	Thymus	Thymus
39	chr5:126205400-126221400	Weak transcription	Fetal Thymus	thymus
40	chr5:126205400-126245600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr5:126205600-126206400	Enhancers	Brain Germinal Matrix	brain
42	chr5:126205600-126206600	Strong transcription	Primary B cells from cord blood	blood
43	chr5:126205600-126209600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:126205600-126210200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:126205600-126210600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr5:126205600-126210600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:126205600-126215400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr5:126205600-126220200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:126205600-126223400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr5:126205600-126238200	Weak transcription	Primary T cells from cord blood	blood

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