Variant report

Variant	rs34180676
Chromosome Location	chr12:124431519-124431520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124426014..124428363-chr12:124429735..124431659,2	K562	blood:

Variant related genes	Relation type
ENSG00000119242	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10773048	0.98[ASN][1000 genomes]
rs10846579	0.85[EUR][1000 genomes]
rs10846580	0.87[EUR][1000 genomes]
rs11057393	0.84[EUR][1000 genomes]
rs11057394	0.85[EUR][1000 genomes]
rs11057396	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11057397	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11057399	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11057400	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11057401	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057407	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057408	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057409	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057412	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057413	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11831913	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833002	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835839	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837287	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1187415	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12296259	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12298484	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12301673	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12303671	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12303933	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12310367	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12311114	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12311848	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12316080	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317176	0.86[EUR][1000 genomes]
rs12809125	0.85[EUR][1000 genomes]
rs12809473	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12823740	0.88[ASN][1000 genomes]
rs12824567	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12827409	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12829951	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12833624	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1882491	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2130382	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2178663	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3186071	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34114498	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34854841	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34878139	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35099862	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35825716	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3789967	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802999	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4405410	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4575361	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4765127	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4765148	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765219	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765305	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765335	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765528	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765541	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765562	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4930721	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4930722	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4930723	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930724	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4930725	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930726	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55990776	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56041971	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488912	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488913	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488914	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131882	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132655	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134121	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7135314	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71458830	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7301953	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7305864	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307053	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7307277	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7311233	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7311969	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7312404	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955815	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958691	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961449	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966192	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973683	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975482	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7978610	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs952632	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9863	0.91[EUR][1000 genomes]
rs9971695	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34180676	CCDC92	cis	Heart Left Ventricle	GTEx
rs34180676	RP11-380L11.4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124417600-124443600	Weak transcription	Fetal Kidney	kidney
2	chr12:124420200-124433000	Weak transcription	Small Intestine	intestine
3	chr12:124420800-124432600	Weak transcription	HepG2	liver
4	chr12:124422400-124439200	Weak transcription	Psoas Muscle	Psoas
5	chr12:124423000-124432800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:124423600-124431600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:124423600-124442200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:124426800-124436800	Weak transcription	NHLF	lung
9	chr12:124427000-124431600	Strong transcription	Fetal Intestine Large	intestine
10	chr12:124427000-124455000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:124427200-124434000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:124427200-124436800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:124427200-124456200	Weak transcription	Esophagus	oesophagus
14	chr12:124427400-124436200	Enhancers	Fetal Brain Male	brain
15	chr12:124427800-124431800	Enhancers	Brain Substantia Nigra	brain
16	chr12:124427800-124436800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:124427800-124444800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:124427800-124453400	Weak transcription	A549	lung
19	chr12:124428200-124432600	Weak transcription	Colonic Mucosa	Colon
20	chr12:124428400-124455800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:124428400-124456000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:124428600-124433000	Weak transcription	NH-A	brain
23	chr12:124428800-124432000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:124428800-124433600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:124428800-124436400	Weak transcription	Fetal Heart	heart
26	chr12:124428800-124449800	Weak transcription	HSMM	muscle
27	chr12:124428800-124455800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr12:124429600-124431800	Enhancers	Brain Angular Gyrus	brain
29	chr12:124429800-124432600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:124429800-124433200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr12:124430000-124432600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:124430000-124433400	Weak transcription	Gastric	stomach
33	chr12:124430000-124433600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:124430000-124435400	Weak transcription	NHDF-Ad	bronchial
35	chr12:124430000-124454800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr12:124430000-124456200	Weak transcription	Fetal Thymus	thymus
37	chr12:124430200-124432800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:124430200-124433000	Weak transcription	Brain Germinal Matrix	brain
39	chr12:124430200-124435000	Weak transcription	Aorta	Aorta
40	chr12:124430200-124443600	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:124430200-124445600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:124430200-124453400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:124430200-124455600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:124430400-124432200	Enhancers	Left Ventricle	heart
45	chr12:124430400-124432800	Weak transcription	HSMMtube	muscle
46	chr12:124430400-124433000	Weak transcription	Fetal Muscle Leg	muscle
47	chr12:124430400-124433400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:124430400-124435000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:124430400-124443600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:124430400-124449800	Weak transcription	Primary B cells from peripheral blood	blood

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