Variant report

Variant	rs867512
Chromosome Location	chr5:126187054-126187055
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126180771..126183524-chr5:126185712..126188380,2	K562	blood:
2	chr5:126187035..126188826-chr5:126364717..126367008,2	K562	blood:
3	chr5:126183182..126187392-chr5:126188791..126191287,4	K562	blood:

Variant related genes	Relation type
ENSG00000173926	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10055711	0.99[ASN][1000 genomes]
rs10057327	0.88[ASN][1000 genomes]
rs1051644	0.81[CEU][hapmap]
rs11740069	0.81[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs12652098	0.84[ASN][1000 genomes]
rs6869763	0.81[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs6875880	0.81[ASN][1000 genomes]
rs7715302	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs7735455	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs884241	0.93[AFR][1000 genomes];0.89[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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126148200-126193200	Weak transcription	Brain Angular Gyrus	brain
2	chr5:126158000-126204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:126163800-126193200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:126175200-126187400	Weak transcription	Dnd41	blood
5	chr5:126175200-126189400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:126181800-126187200	Weak transcription	GM12878-XiMat	blood
7	chr5:126181800-126189200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr5:126182000-126187400	Weak transcription	Fetal Intestine Small	intestine
9	chr5:126182000-126190800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr5:126182400-126187200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:126182400-126192600	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:126182600-126187200	Weak transcription	A549	lung
13	chr5:126182600-126187800	Weak transcription	Primary B cells from cord blood	blood
14	chr5:126182600-126187800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:126182600-126188200	Weak transcription	Colonic Mucosa	Colon
16	chr5:126182600-126193000	Weak transcription	Right Ventricle	heart
17	chr5:126182800-126187600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:126182800-126187800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:126183200-126187400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:126183400-126188000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:126183600-126187200	Weak transcription	NHDF-Ad	bronchial
22	chr5:126183600-126188600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:126183600-126210400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:126183800-126187200	Weak transcription	Fetal Kidney	kidney
25	chr5:126183800-126187200	Weak transcription	HUVEC	blood vessel
26	chr5:126183800-126187400	Weak transcription	HSMM	muscle
27	chr5:126183800-126187400	Weak transcription	HSMMtube	muscle
28	chr5:126183800-126188000	Weak transcription	Fetal Brain Female	brain
29	chr5:126183800-126188200	Weak transcription	Lung	lung
30	chr5:126183800-126193000	Weak transcription	Fetal Lung	lung
31	chr5:126183800-126193400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:126184000-126187200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:126184200-126187400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr5:126184200-126187400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:126184200-126187600	Weak transcription	Placenta	Placenta
36	chr5:126184200-126187600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:126184400-126190800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:126184400-126193000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:126184400-126193200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:126184400-126193600	Weak transcription	Brain Germinal Matrix	brain
41	chr5:126184600-126187200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr5:126184600-126193000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr5:126185200-126187200	Weak transcription	Left Ventricle	heart
44	chr5:126185200-126187200	Weak transcription	Osteobl	bone
45	chr5:126185200-126187400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:126185400-126187200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:126185400-126188000	Weak transcription	Brain Hippocampus Middle	brain
48	chr5:126185400-126189400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:126185400-126190800	Weak transcription	Stomach Mucosa	stomach
50	chr5:126186000-126188200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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