Variant report

Variant	rs1882491
Chromosome Location	chr12:124454235-124454236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr12:124452989-124454384	IMR90	lung:	n/a	n/a
2	RCOR1	chr12:124453083-124454289	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:124450327..124455412-chr12:124455418..124460730,10	K562	blood:
2	chr12:124450274..124453930-chr12:124454051..124458606,8	K562	blood:
3	chr12:124446241..124449845-chr12:124451666..124454332,3	K562	blood:

Variant related genes	Relation type
ENSG00000269997	TF binding region
ZNF664	TF binding region
FAM101A	TF binding region
ENSG00000269938	TF binding region
ENSG00000179195	Chromatin interaction
ENSG00000270095	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000269938	Chromatin interaction
ENSG00000178882	Chromatin interaction
ENSG00000270048	Chromatin interaction
ENSG00000269997	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1054852	0.83[ASN][1000 genomes]
rs10773048	0.90[ASN][1000 genomes]
rs10846579	0.85[EUR][1000 genomes]
rs10846580	0.87[EUR][1000 genomes]
rs11057393	0.83[EUR][1000 genomes]
rs11057394	0.85[EUR][1000 genomes]
rs11057396	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11057397	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11057399	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11057400	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11057401	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11057407	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11057408	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11057409	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11057412	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11057413	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11831913	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11833002	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11835839	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11837287	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1187415	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12296259	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12298484	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12301673	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303671	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12303933	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12310367	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12311114	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12311848	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12316080	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12317176	0.84[EUR][1000 genomes]
rs12809125	0.85[EUR][1000 genomes]
rs12809473	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12823740	0.96[ASN][1000 genomes]
rs12824567	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12827409	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12829951	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12833624	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2130382	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2178663	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3186071	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34102591	0.88[ASN][1000 genomes]
rs34114498	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34180676	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34854841	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34878139	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35099862	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35825716	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3789967	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3802999	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4405410	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4575361	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4765127	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4765148	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4765219	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4765305	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4765335	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4765528	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4765541	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4765562	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4765568	0.88[ASN][1000 genomes]
rs4930721	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4930722	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4930723	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4930724	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4930725	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4930726	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55990776	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56041971	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6488912	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6488913	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6488914	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7131882	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7132655	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7134121	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7135314	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71458830	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7301953	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7305864	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7307053	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7307277	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7311233	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7311969	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7312404	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7955815	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7958691	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7961449	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7966192	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7973683	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7975482	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7978610	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs952632	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[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
rs1882491	CCDC92	cis	Heart Left Ventricle	GTEx
rs1882491	RP11-380L11.4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124427000-124455000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:124427200-124456200	Weak transcription	Esophagus	oesophagus
3	chr12:124428400-124455800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:124428400-124456000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:124428800-124455800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:124430000-124454800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:124430000-124456200	Weak transcription	Fetal Thymus	thymus
8	chr12:124430200-124455600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:124430400-124454800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:124430400-124455800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:124430400-124456000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:124430400-124456000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:124430400-124456000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:124430600-124456200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:124431800-124455800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:124434400-124456200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:124435400-124456000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:124435600-124456000	Weak transcription	Placenta	Placenta
19	chr12:124435800-124456200	Weak transcription	Pancreas	Pancrea
20	chr12:124436400-124454600	Weak transcription	Brain Germinal Matrix	brain
21	chr12:124436400-124455000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:124436400-124455800	Weak transcription	Brain Angular Gyrus	brain
23	chr12:124436400-124456000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:124437000-124456200	Weak transcription	Gastric	stomach
25	chr12:124443800-124455600	Weak transcription	Fetal Heart	heart
26	chr12:124443800-124455800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:124443800-124456000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:124443800-124456000	Weak transcription	Fetal Kidney	kidney
29	chr12:124444000-124454600	Weak transcription	HepG2	liver
30	chr12:124445000-124454600	Weak transcription	Fetal Brain Female	brain
31	chr12:124445000-124456000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:124446400-124456200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:124446800-124455800	Weak transcription	Stomach Mucosa	stomach
34	chr12:124447600-124455600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:124448000-124456200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:124448000-124456200	Weak transcription	Lung	lung
37	chr12:124448200-124454800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:124448400-124456000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:124449200-124454600	Weak transcription	Fetal Intestine Small	intestine
40	chr12:124449600-124456000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:124450200-124454600	Weak transcription	Fetal Intestine Large	intestine
42	chr12:124450200-124456000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr12:124450400-124456000	Weak transcription	Thymus	Thymus
44	chr12:124450400-124456200	Weak transcription	Ovary	ovary
45	chr12:124450600-124456000	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:124450600-124456000	Weak transcription	Fetal Stomach	stomach
47	chr12:124450600-124456200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:124451000-124454800	Enhancers	Osteobl	bone
49	chr12:124451200-124455200	Weak transcription	Fetal Lung	lung
50	chr12:124451400-124454800	Weak transcription	Left Ventricle	heart

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