Variant report

Variant	rs67098772
Chromosome Location	chr14:55595242-55595243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:55595128-55597550	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:55595086-55597263	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr14:55595169-55596155	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr14:55595168-55595385	HepG2	liver:	n/a	n/a
5	E2F4	chr14:55595235-55595435	MCF10A-Er-Src	breast:	n/a	n/a
6	MAZ	chr14:55595111-55597370	IMR90	lung:	n/a	chr14:55595693-55595703 chr14:55597040-55597049

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:55595227-55595277	NHBE	bronchial:	n/a
2	chr14:55595227-55595277	HCF	heart:	n/a
3	chr14:55595227-55595277	HRCEpiC	kidney:	n/a
4	chr14:55595227-55595277	SAEC	small airway:	n/a
5	chr14:55595227-55595277	Jurkat	blood:	n/a
6	chr14:55595227-55595277	MCF-7	breast:	n/a
7	chr14:55595227-55595277	NHDF-neo	bronchial:	n/a
8	chr14:55595227-55595277	HUVEC	blood vessel:	n/a
9	chr14:55595227-55595277	HAEpiC	amniotic membrane:	n/a
10	chr14:55595227-55595277	ProgFib	skin:	n/a
11	chr14:55595227-55595277	BE2_C	brain:	n/a
12	chr14:55595227-55595277	LNCaP	prostate:	n/a
13	chr14:55595227-55595277	AoSMC	blood vessel:	n/a
14	chr14:55595227-55595277	AG09319	gingival:	n/a
15	chr14:55595227-55595277	AG10803	skin:	n/a
16	chr14:55595227-55595277	Caco-2	colon:	n/a
17	chr14:55595227-55595277	HCT-116	colon:	n/a
18	chr14:55595227-55595277	RPTEC	kidney:	n/a
19	chr14:55595227-55595277	ovcar-3	ovarian:	n/a
20	chr14:55595227-55595277	IMR90	lung:	fetal
21	chr14:55595227-55595277	BJ	skin:	n/a
22	chr14:55595227-55595277	HRPEpiC	eye:	n/a
23	chr14:55595227-55595277	HIPEpiC	eye:	n/a
24	chr14:55595227-55595277	HPAEpiC	pulmonary alveolar:	n/a
25	chr14:55595227-55595277	AG04450	lung:	fetal
26	chr14:55595227-55595277	GM06990	blood:	n/a
27	chr14:55595227-55595277	AG04449	skin:	fetal
28	chr14:55595227-55595277	U87	brain:	n/a
29	chr14:55595227-55595277	GM19239	blood:	n/a
30	chr14:55595227-55595277	H1-hESC	embryonic stem cell:	embryo
31	chr14:55595227-55595277	Hela-S3	cervix:	n/a
32	chr14:55595227-55595277	ECC-1	luminal epithelium:	n/a
33	chr14:55595227-55595277	K562	blood:	n/a
34	chr14:55595227-55595277	A549	lung:	n/a
35	chr14:55595227-55595277	HL-60	blood:	n/a
36	chr14:55595227-55595277	HCPEpiC	choroid plexus:	n/a
37	chr14:55595227-55595277	SK-N-MC	brain:	n/a
38	chr14:55595227-55595277	PANC-1	pancreas:	n/a
39	chr14:55595227-55595277	SK-N-SH	brain:	n/a
40	chr14:55595227-55595277	NT2-D1	testis:	n/a
41	chr14:55595227-55595277	T-47D	breast:	n/a
42	chr14:55595227-55595277	Hepatocyte	liver:	n/a
43	chr14:55595227-55595277	GM12892	blood:	n/a
44	chr14:55595227-55595277	GM12891	blood:	n/a
45	chr14:55595227-55595277	HEEpiC	esophagus:	n/a
46	chr14:55595227-55595277	SK-N-SH_RA	brain:	n/a
47	chr14:55595227-55595277	HNPCEpiC	eye:	n/a
48	chr14:55595227-55595277	HEK293	kidney:	embryo
49	chr14:55595227-55595277	HMEC	breast:	n/a
50	chr14:55595227-55595277	AG09309	skin:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55368311..55371330-chr14:55594542..55598408,4	MCF-7	breast:
2	chr14:55516981..55523073-chr14:55594365..55600344,10	MCF-7	breast:
3	chr14:55595145..55596943-chr14:60714507..60716097,2	MCF-7	breast:
4	chr14:55492412..55494140-chr14:55594962..55596941,2	MCF-7	breast:
5	chr14:55518259..55522048-chr14:55593067..55596290,3	K562	blood:
6	chr14:55595164..55595992-chr16:87425741..87426276,2	Hela-S3	cervix:
7	chr14:55587248..55591020-chr14:55595215..55599629,4	K562	blood:
8	chr14:55517037..55520851-chr14:55594266..55601656,13	MCF-7	breast:
9	chr14:55594568..55597255-chr20:45984392..45987223,2	MCF-7	breast:

No data

Variant related genes	Relation type
LGALS3	TF binding region
LGALS3	CpG island
ENSG00000198554	Chromatin interaction
ENSG00000140941	Chromatin interaction
ENSG00000168175	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000180008	Chromatin interaction
ENSG00000103264	Chromatin interaction
ENSG00000254718	Chromatin interaction
ENSG00000100614	Chromatin interaction
ENSG00000131981	Chromatin interaction
ENSG00000131979	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1009977	0.96[EUR][1000 genomes]
rs1009978	0.94[EUR][1000 genomes]
rs10134800	0.86[EUR][1000 genomes]
rs10137409	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10140857	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10147667	0.93[EUR][1000 genomes]
rs10149435	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10438127	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1047556	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11621351	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11622636	0.88[ASN][1000 genomes]
rs11622740	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs15870	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17128183	0.87[EUR][1000 genomes]
rs17253695	0.86[ASN][1000 genomes]
rs17672058	0.88[ASN][1000 genomes]
rs17832359	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1815316	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2075601	0.91[EUR][1000 genomes]
rs2075602	0.91[EUR][1000 genomes]
rs2075603	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2094102	0.96[EUR][1000 genomes]
rs2094436	0.88[ASN][1000 genomes]
rs2147970	0.88[ASN][1000 genomes]
rs2147972	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2182207	0.96[ASN][1000 genomes]
rs2296489	0.92[ASN][1000 genomes]
rs2340931	0.94[EUR][1000 genomes]
rs2340936	0.87[ASN][1000 genomes]
rs28429419	0.89[EUR][1000 genomes]
rs3742566	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3759667	0.88[ASN][1000 genomes]
rs3818451	0.82[EUR][1000 genomes]
rs3825613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4040064	0.82[ASN][1000 genomes]
rs4525413	0.83[ASN][1000 genomes]
rs4644	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4652	0.88[EUR][1000 genomes]
rs55710823	0.95[ASN][1000 genomes]
rs56660630	0.85[EUR][1000 genomes]
rs57033289	0.91[ASN][1000 genomes]
rs57970196	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58269011	0.82[ASN][1000 genomes]
rs61508494	0.96[EUR][1000 genomes]
rs6573005	0.96[EUR][1000 genomes]
rs6573006	0.96[EUR][1000 genomes]
rs6573007	0.91[EUR][1000 genomes]
rs66476033	0.88[ASN][1000 genomes]
rs66531545	0.92[ASN][1000 genomes]
rs66782529	0.95[ASN][1000 genomes]
rs66842809	0.88[ASN][1000 genomes]
rs66871576	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67092614	0.88[ASN][1000 genomes]
rs67215571	0.88[ASN][1000 genomes]
rs67395212	0.96[ASN][1000 genomes]
rs67588230	0.88[ASN][1000 genomes]
rs67756714	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67805055	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67958555	0.88[ASN][1000 genomes]
rs68083077	0.84[ASN][1000 genomes]
rs7140872	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7142704	0.94[EUR][1000 genomes]
rs7147106	0.83[EUR][1000 genomes]
rs7159808	0.91[EUR][1000 genomes]
rs7160110	0.96[EUR][1000 genomes]
rs7160523	0.91[EUR][1000 genomes]
rs72718804	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7493394	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8004787	0.91[EUR][1000 genomes]
rs8007614	0.90[EUR][1000 genomes]
rs8007620	0.91[EUR][1000 genomes]
rs8007944	0.88[EUR][1000 genomes]
rs8009670	0.89[EUR][1000 genomes]
rs8011834	0.96[EUR][1000 genomes]
rs8013027	0.98[EUR][1000 genomes]
rs8018110	0.86[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67098772	RP11-665C16.6	cis	Muscle Skeletal	GTEx

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55582200-55595600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr14:55587000-55595600	Enhancers	Stomach Mucosa	stomach
3	chr14:55587600-55595600	Enhancers	Fetal Heart	heart
4	chr14:55589800-55595600	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:55590000-55595400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr14:55590000-55595600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:55590000-55595600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr14:55590200-55595800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:55590400-55595600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:55590800-55596200	Weak transcription	Fetal Lung	lung
11	chr14:55591600-55595400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:55591600-55595400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr14:55591600-55595600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:55592400-55595400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:55592400-55595600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:55592400-55595600	Weak transcription	K562	blood
17	chr14:55592600-55595400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:55592600-55595600	Weak transcription	Placenta	Placenta
19	chr14:55592600-55595600	Weak transcription	Gastric	stomach
20	chr14:55592600-55595800	Weak transcription	Spleen	Spleen
21	chr14:55592800-55595600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:55593000-55595400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr14:55593000-55595600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:55593000-55595600	Weak transcription	Esophagus	oesophagus
25	chr14:55593000-55596400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr14:55593200-55595600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:55593200-55595600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:55593200-55595600	Weak transcription	Colonic Mucosa	Colon
29	chr14:55593200-55595600	Weak transcription	Small Intestine	intestine
30	chr14:55593200-55597800	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr14:55593600-55595400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:55593600-55595600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr14:55593600-55595600	Weak transcription	Ovary	ovary
34	chr14:55593600-55595600	Weak transcription	Right Atrium	heart
35	chr14:55593600-55595600	Enhancers	Osteobl	bone
36	chr14:55593800-55595400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr14:55593800-55595400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:55593800-55595400	Enhancers	HMEC	breast
39	chr14:55593800-55595400	Enhancers	NHEK	skin
40	chr14:55594000-55595400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:55594000-55595600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:55594000-55595600	Enhancers	HSMM	muscle
43	chr14:55594200-55595400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:55594200-55595400	Enhancers	A549	lung
45	chr14:55594200-55595400	Enhancers	NHLF	lung
46	chr14:55594200-55595600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr14:55594400-55595600	Weak transcription	Left Ventricle	heart
48	chr14:55594400-55595600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr14:55594600-55595400	Weak transcription	NHDF-Ad	bronchial
50	chr14:55594800-55595400	Enhancers	Adipose Nuclei	Adipose

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