Variant report

Variant	rs1110322
Chromosome Location	chr5:126183294-126183295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:126181496..126183544-chr5:126306554..126308992,2	K562	blood:
2	chr5:126181775..126183467-chr5:126371071..126372584,2	K562	blood:
3	chr5:126183285..126184918-chr5:126362668..126364579,2	K562	blood:
4	chr5:126180168..126183460-chr5:126365910..126369057,3	K562	blood:
5	chr5:126161556..126164449-chr5:126182643..126185474,2	K562	blood:
6	chr5:126183182..126187392-chr5:126188791..126191287,4	K562	blood:
7	chr5:126180771..126183524-chr5:126185712..126188380,2	K562	blood:
8	chr5:126182823..126185083-chr5:126364942..126366791,2	MCF-7	breast:
9	chr5:126181847..126184918-chr5:126362668..126365476,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173926	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11740069	0.80[ASN][1000 genomes]
rs12656316	0.84[ASN][1000 genomes]
rs1973592	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4836299	1.00[ASN][1000 genomes]
rs62392872	0.88[ASN][1000 genomes]
rs62392876	0.87[ASN][1000 genomes]
rs6869763	0.80[ASN][1000 genomes]
rs72663350	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs959573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126146000-126183600	Weak transcription	Left Ventricle	heart
2	chr5:126148200-126193200	Weak transcription	Brain Angular Gyrus	brain
3	chr5:126158000-126204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:126163800-126193200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:126169800-126184800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:126170200-126184800	Weak transcription	Spleen	Spleen
7	chr5:126170200-126186800	Weak transcription	NHLF	lung
8	chr5:126171200-126187000	Weak transcription	NH-A	brain
9	chr5:126171800-126184000	Weak transcription	Brain Germinal Matrix	brain
10	chr5:126172200-126183600	Weak transcription	Liver	Liver
11	chr5:126172600-126187000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:126175200-126187400	Weak transcription	Dnd41	blood
13	chr5:126175200-126189400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:126181200-126184000	Enhancers	Primary T cells from cord blood	blood
15	chr5:126181200-126184000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr5:126181200-126184400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:126181200-126184600	Enhancers	Fetal Thymus	thymus
18	chr5:126181400-126183800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:126181400-126183800	Enhancers	Fetal Kidney	kidney
20	chr5:126181400-126183800	Enhancers	HUVEC	blood vessel
21	chr5:126181400-126184400	Enhancers	Fetal Stomach	stomach
22	chr5:126181400-126185400	Enhancers	Adipose Nuclei	Adipose
23	chr5:126181400-126185400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr5:126181600-126183400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:126181600-126183600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:126181600-126183600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:126181600-126183800	Enhancers	HSMM	muscle
28	chr5:126181600-126185200	Enhancers	Fetal Muscle Leg	muscle
29	chr5:126181600-126185600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:126181600-126185600	Enhancers	Fetal Heart	heart
31	chr5:126181800-126183400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:126181800-126183600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:126181800-126183800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr5:126181800-126184400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr5:126181800-126184600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr5:126181800-126184800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr5:126181800-126185400	Enhancers	Brain Hippocampus Middle	brain
38	chr5:126181800-126185400	Enhancers	Fetal Brain Male	brain
39	chr5:126181800-126187200	Weak transcription	GM12878-XiMat	blood
40	chr5:126181800-126189200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr5:126182000-126184000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr5:126182000-126186800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:126182000-126187400	Weak transcription	Fetal Intestine Small	intestine
44	chr5:126182000-126190800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr5:126182200-126183600	Enhancers	NHDF-Ad	bronchial
46	chr5:126182200-126183800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:126182200-126184200	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr5:126182200-126184400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:126182200-126185000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:126182200-126186800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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