Variant report

Variant	rs12532513
Chromosome Location	chr7:128104554-128104555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128095158..128096724-chr7:128104393..128107346,2	K562	blood:

Variant related genes	Relation type
ENSG00000240758	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000273184	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10223975	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10231136	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10272840	0.86[ASN][1000 genomes]
rs11761662	0.88[AMR][1000 genomes]
rs11767993	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11770604	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771484	0.88[AMR][1000 genomes]
rs11772734	0.86[ASN][1000 genomes]
rs12530672	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540658	0.86[ASN][1000 genomes]
rs13224451	0.86[ASN][1000 genomes]
rs13224784	0.86[ASN][1000 genomes]
rs13226592	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13233642	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13247746	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34742251	0.81[EUR][1000 genomes]
rs4338038	0.86[ASN][1000 genomes]
rs55669239	0.88[AMR][1000 genomes]
rs57890423	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60654313	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71546775	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7790839	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7798776	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7801678	0.86[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	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv608401	chr7:128083454-128108776	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv981577	chr7:128102655-128107081	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs12532513	CICP14	cis	Muscle Skeletal	GTEx
rs12532513	METTL2B	cis	Artery Tibial	GTEx
rs12532513	CICP14	cis	Nerve Tibial	GTEx
rs12532513	RP11-274B21.10	cis	Thyroid	GTEx
rs12532513	RP11-274B21.10	cis	Skin Sun Exposed Lower leg	GTEx
rs12532513	METTL2B	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128096400-128116400	Weak transcription	Lung	lung
2	chr7:128097400-128107800	Weak transcription	Spleen	Spleen
3	chr7:128097600-128116200	Weak transcription	Fetal Kidney	kidney
4	chr7:128097600-128116200	Weak transcription	Left Ventricle	heart
5	chr7:128097800-128116400	Weak transcription	Fetal Stomach	stomach
6	chr7:128097800-128116400	Weak transcription	Gastric	stomach
7	chr7:128097800-128116400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:128098200-128116400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:128098200-128116400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:128098400-128108000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:128098600-128104800	Weak transcription	Osteobl	bone
12	chr7:128098600-128116200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:128098800-128108200	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:128099000-128116200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:128099000-128116400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:128099200-128116400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:128099400-128116200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:128099400-128116400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:128099800-128104800	Weak transcription	Brain Substantia Nigra	brain
20	chr7:128099800-128116200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:128099800-128116200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:128099800-128116400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:128099800-128116400	Weak transcription	Fetal Intestine Small	intestine
24	chr7:128099800-128116400	Weak transcription	Ovary	ovary
25	chr7:128100000-128108000	Weak transcription	Fetal Brain Female	brain
26	chr7:128100000-128109000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:128100000-128116200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:128100000-128116200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:128100000-128116200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:128100000-128116400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:128100000-128116400	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:128100000-128116400	Weak transcription	Esophagus	oesophagus
33	chr7:128100000-128116400	Weak transcription	Fetal Brain Male	brain
34	chr7:128100200-128108000	Weak transcription	Brain Anterior Caudate	brain
35	chr7:128100200-128108000	Weak transcription	Dnd41	blood
36	chr7:128100200-128116200	Weak transcription	Brain Germinal Matrix	brain
37	chr7:128100200-128116200	Weak transcription	K562	blood
38	chr7:128100400-128108200	Weak transcription	Adipose Nuclei	Adipose
39	chr7:128100400-128116200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:128100600-128116200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:128101200-128105200	Weak transcription	GM12878-XiMat	blood
42	chr7:128102000-128104600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:128102400-128104600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:128102800-128104600	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr7:128102800-128116200	Weak transcription	A549	lung
46	chr7:128103000-128106000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:128103000-128116200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr7:128103000-128116200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr7:128103000-128116200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:128103000-128116200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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