Variant report

Variant	rs7955815
Chromosome Location	chr12:124432706-124432707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:124432686-124432736	HEEpiC	esophagus:	n/a
2	chr12:124432686-124432736	HRCEpiC	kidney:	n/a
3	chr12:124432686-124432736	HMEC	breast:	n/a
4	chr12:124432686-124432736	HCPEpiC	choroid plexus:	n/a
5	chr12:124432686-124432736	GM19239	blood:	n/a
6	chr12:124432686-124432736	HCT-116	colon:	n/a
7	chr12:124432686-124432736	HCF	heart:	n/a
8	chr12:124432686-124432736	AG09309	skin:	n/a
9	chr12:124432686-124432736	MCF-7	breast:	n/a
10	chr12:124432686-124432736	AG04449	skin:	fetal
11	chr12:124432686-124432736	ECC-1	luminal epithelium:	n/a
12	chr12:124432686-124432736	PrEC	prostate:	n/a
13	chr12:124432686-124432736	HepG2	liver:	n/a
14	chr12:124432686-124432736	K562	blood:	n/a
15	chr12:124432686-124432736	HCM	heart:	n/a
16	chr12:124432686-124432736	HIPEpiC	eye:	n/a
17	chr12:124432686-124432736	GM12892	blood:	n/a
18	chr12:124432686-124432736	GM12878	blood:	n/a
19	chr12:124432686-124432736	GM12891	blood:	n/a
20	chr12:124432686-124432736	SK-N-SH_RA	brain:	n/a
21	chr12:124432686-124432736	HRPEpiC	eye:	n/a
22	chr12:124432686-124432736	SK-N-MC	brain:	n/a
23	chr12:124432686-124432736	HPAEpiC	pulmonary alveolar:	n/a
24	chr12:124432686-124432736	AG04450	lung:	fetal
25	chr12:124432686-124432736	Hepatocyte	liver:	n/a
26	chr12:124432686-124432736	CMK	blood:	n/a
27	chr12:124432686-124432736	HEK293	kidney:	embryo
28	chr12:124432686-124432736	T-47D	breast:	n/a
29	chr12:124432686-124432736	LNCaP	prostate:	n/a
30	chr12:124432686-124432736	BE2_C	brain:	n/a
31	chr12:124432686-124432736	Caco-2	colon:	n/a
32	chr12:124432686-124432736	AG09319	gingival:	n/a
33	chr12:124432686-124432736	NB4	blood:	n/a
34	chr12:124432686-124432736	NHBE	bronchial:	n/a
35	chr12:124432686-124432736	AG10803	skin:	n/a
36	chr12:124432686-124432736	HRE	kidney:	n/a
37	chr12:124432686-124432736	HUVEC	blood vessel:	n/a
38	chr12:124432686-124432736	IMR90	lung:	fetal
39	chr12:124432686-124432736	NT2-D1	testis:	n/a
40	chr12:124432686-124432736	HL-60	blood:	n/a
41	chr12:124432686-124432736	Jurkat	blood:	n/a
42	chr12:124432686-124432736	A549	lung:	n/a
43	chr12:124432686-124432736	SAEC	small airway:	n/a
44	chr12:124432686-124432736	ovcar-3	ovarian:	n/a
45	chr12:124432686-124432736	HNPCEpiC	eye:	n/a
46	chr12:124432686-124432736	GM06990	blood:	n/a
47	chr12:124432686-124432736	U87	brain:	n/a
48	chr12:124432686-124432736	PANC-1	pancreas:	n/a
49	chr12:124432686-124432736	BJ	skin:	n/a
50	chr12:124432686-124432736	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124432308..124434626-chr12:124455003..124457050,2	K562	blood:

No data

Variant related genes	Relation type
CCDC92	CpG island
ENSG00000270095	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000179195	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	0.87[EUR][1000 genomes]
rs10846580	0.89[EUR][1000 genomes]
rs11057393	0.86[EUR][1000 genomes]
rs11057394	0.87[EUR][1000 genomes]
rs11057396	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11057397	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11057399	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11057400	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11057401	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057407	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057408	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057409	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057412	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057413	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11831913	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833002	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835839	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837287	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1187415	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12296259	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12298484	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12301673	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12303671	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12303933	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12310367	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12311114	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12311848	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12316080	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317176	0.87[EUR][1000 genomes]
rs12809125	0.87[EUR][1000 genomes]
rs12809473	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12823740	0.88[ASN][1000 genomes]
rs12824567	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12827409	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12829951	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12833624	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1882491	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2130382	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2178663	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3186071	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34114498	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34180676	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34854841	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34878139	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35099862	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35825716	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3789967	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802999	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4405410	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4575361	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4765127	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4765148	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765219	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765305	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765335	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765528	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765541	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765562	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4930721	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930722	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4930723	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930724	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4930725	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930726	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55990776	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56041971	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488912	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488913	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488914	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131882	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132655	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134121	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7135314	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71458830	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7301953	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7305864	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307053	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7307277	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7311233	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7311969	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7312404	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958691	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961449	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966192	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973683	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975482	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7978610	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs952632	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9863	0.93[EUR][1000 genomes]
rs9971695	0.88[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
rs7955815	RP11-380L11.4	cis	Esophagus Muscularis	GTEx
rs7955815	CCDC92	cis	Heart Left Ventricle	GTEx

Chromatin state (count:97 , 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	chr12:124422400-124439200	Weak transcription	Psoas Muscle	Psoas
4	chr12:124423000-124432800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:124423600-124442200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:124426800-124436800	Weak transcription	NHLF	lung
7	chr12:124427000-124455000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:124427200-124434000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:124427200-124436800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:124427200-124456200	Weak transcription	Esophagus	oesophagus
11	chr12:124427400-124436200	Enhancers	Fetal Brain Male	brain
12	chr12:124427800-124436800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:124427800-124444800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:124427800-124453400	Weak transcription	A549	lung
15	chr12:124428400-124455800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:124428400-124456000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:124428600-124433000	Weak transcription	NH-A	brain
18	chr12:124428800-124433600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:124428800-124436400	Weak transcription	Fetal Heart	heart
20	chr12:124428800-124449800	Weak transcription	HSMM	muscle
21	chr12:124428800-124455800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:124429800-124433200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr12:124430000-124433400	Weak transcription	Gastric	stomach
24	chr12:124430000-124433600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:124430000-124435400	Weak transcription	NHDF-Ad	bronchial
26	chr12:124430000-124454800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:124430000-124456200	Weak transcription	Fetal Thymus	thymus
28	chr12:124430200-124432800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:124430200-124433000	Weak transcription	Brain Germinal Matrix	brain
30	chr12:124430200-124435000	Weak transcription	Aorta	Aorta
31	chr12:124430200-124443600	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:124430200-124445600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:124430200-124453400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:124430200-124455600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:124430400-124432800	Weak transcription	HSMMtube	muscle
36	chr12:124430400-124433000	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:124430400-124433400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr12:124430400-124435000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:124430400-124443600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:124430400-124449800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr12:124430400-124450400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:124430400-124454800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:124430400-124455800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:124430400-124456000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:124430400-124456000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:124430400-124456000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:124430600-124432800	Weak transcription	Liver	Liver
48	chr12:124430600-124432800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr12:124430600-124433800	Weak transcription	Thymus	Thymus
50	chr12:124430600-124434800	Weak transcription	Ovary	ovary

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