Variant report

Variant	rs67395212
Chromosome Location	chr14:55591939-55591940
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr14:55591562-55592644	PBDE	blood:	n/a	chr14:55592347-55592357
2	TAL1	chr14:55591717-55592118	K562	blood:	n/a	n/a
3	RCOR1	chr14:55591662-55591999	K562	blood:	n/a	n/a
4	TEAD4	chr14:55591710-55592139	K562	blood:	n/a	n/a
5	CEBPD	chr14:55591735-55592114	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:55591912-55591962	Jurkat	blood:	n/a
2	chr14:55591912-55591962	Caco-2	colon:	n/a
3	chr14:55591912-55591962	A549	lung:	n/a
4	chr14:55591912-55591962	U87	brain:	n/a
5	chr14:55591912-55591962	PANC-1	pancreas:	n/a
6	chr14:55591912-55591962	HCM	heart:	n/a
7	chr14:55591912-55591962	BJ	skin:	n/a
8	chr14:55591912-55591962	MCF-7	breast:	n/a
9	chr14:55591912-55591962	NB4	blood:	n/a
10	chr14:55591912-55591962	Hela-S3	cervix:	n/a
11	chr14:55591912-55591962	HEEpiC	esophagus:	n/a
12	chr14:55591912-55591962	GM12891	blood:	n/a
13	chr14:55591912-55591962	PFSK-1	brain:	n/a
14	chr14:55591912-55591962	ovcar-3	ovarian:	n/a
15	chr14:55591912-55591962	MCF10A-Er-Src	breast:	n/a
16	chr14:55591912-55591962	GM12892	blood:	n/a
17	chr14:55591912-55591962	H1-hESC	embryonic stem cell:	embryo
18	chr14:55591912-55591962	LNCaP	prostate:	n/a
19	chr14:55591912-55591962	HCF	heart:	n/a
20	chr14:55591912-55591962	NHDF-neo	bronchial:	n/a
21	chr14:55591912-55591962	AG09319	gingival:	n/a
22	chr14:55591912-55591962	HRPEpiC	eye:	n/a
23	chr14:55591912-55591962	Hepatocyte	liver:	n/a
24	chr14:55591912-55591962	HAEpiC	amniotic membrane:	n/a
25	chr14:55591912-55591962	AoSMC	blood vessel:	n/a
26	chr14:55591912-55591962	SK-N-MC	brain:	n/a
27	chr14:55591912-55591962	NT2-D1	testis:	n/a
28	chr14:55591912-55591962	NH-A	brain:	n/a
29	chr14:55591912-55591962	IMR90	lung:	fetal
30	chr14:55591912-55591962	T-47D	breast:	n/a
31	chr14:55591912-55591962	K562	blood:	n/a
32	chr14:55591912-55591962	GM12878	blood:	n/a
33	chr14:55591912-55591962	AG04449	skin:	fetal
34	chr14:55591912-55591962	AG04450	lung:	fetal
35	chr14:55591912-55591962	ECC-1	luminal epithelium:	n/a
36	chr14:55591912-55591962	CMK	blood:	n/a
37	chr14:55591912-55591962	HPAEpiC	pulmonary alveolar:	n/a
38	chr14:55591912-55591962	SK-N-SH	brain:	n/a
39	chr14:55591912-55591962	AG09309	skin:	n/a
40	chr14:55591912-55591962	BE2_C	brain:	n/a
41	chr14:55591912-55591962	PrEC	prostate:	n/a
42	chr14:55591912-55591962	HNPCEpiC	eye:	n/a
43	chr14:55591912-55591962	HEK293	kidney:	embryo
44	chr14:55591912-55591962	SAEC	small airway:	n/a
45	chr14:55591912-55591962	RPTEC	kidney:	n/a
46	chr14:55591912-55591962	HCT-116	colon:	n/a
47	chr14:55591912-55591962	GM19239	blood:	n/a
48	chr14:55591912-55591962	AG10803	skin:	n/a
49	chr14:55591912-55591962	SKMC	muscle:	n/a
50	chr14:55591912-55591962	ProgFib	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55583659..55586455-chr14:55591189..55593234,2	K562	blood:

No data

Variant related genes	Relation type
LGALS3	TF binding region
LGALS3	CpG island

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10137409	0.92[ASN][1000 genomes]
rs10140857	0.92[ASN][1000 genomes]
rs10149435	0.93[ASN][1000 genomes]
rs10438127	0.88[ASN][1000 genomes]
rs1047556	0.96[ASN][1000 genomes]
rs11621351	0.92[ASN][1000 genomes]
rs11622636	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11622740	0.93[ASN][1000 genomes]
rs15870	0.92[ASN][1000 genomes]
rs17253695	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17672058	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17672364	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17832359	0.92[ASN][1000 genomes]
rs1815316	0.92[ASN][1000 genomes]
rs2075603	0.92[ASN][1000 genomes]
rs2094436	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2147970	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2147972	0.96[ASN][1000 genomes]
rs2182207	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296489	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2340936	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3742566	0.98[ASN][1000 genomes]
rs3759667	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3825613	0.96[ASN][1000 genomes]
rs4040064	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4525413	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4644	0.92[ASN][1000 genomes]
rs55710823	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57033289	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57970196	0.96[ASN][1000 genomes]
rs58269011	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58553156	0.96[EUR][1000 genomes]
rs66476033	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66531545	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66782529	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66842809	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66871576	0.91[ASN][1000 genomes]
rs67008693	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67092614	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67098772	0.96[ASN][1000 genomes]
rs67215571	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67416413	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67588230	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67756714	0.98[ASN][1000 genomes]
rs67805055	0.96[ASN][1000 genomes]
rs67958555	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68083077	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7140872	0.92[ASN][1000 genomes]
rs72718804	0.90[ASN][1000 genomes]
rs7493394	0.93[ASN][1000 genomes]

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55570000-55594800	Enhancers	Fetal Intestine Large	intestine
2	chr14:55577600-55594800	Enhancers	Fetal Intestine Small	intestine
3	chr14:55582200-55595600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:55584600-55592600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr14:55586000-55593600	Enhancers	Left Ventricle	heart
6	chr14:55586800-55592600	Enhancers	Placenta	Placenta
7	chr14:55587000-55595600	Enhancers	Stomach Mucosa	stomach
8	chr14:55587400-55592600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:55587600-55595600	Enhancers	Fetal Heart	heart
10	chr14:55588800-55592000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:55588800-55594400	Enhancers	Adipose Nuclei	Adipose
12	chr14:55589200-55592800	Enhancers	Lung	lung
13	chr14:55589200-55592800	Enhancers	Right Ventricle	heart
14	chr14:55589200-55593000	Enhancers	Right Atrium	heart
15	chr14:55589200-55593400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:55589600-55593000	Enhancers	Esophagus	oesophagus
17	chr14:55589600-55593200	Enhancers	Small Intestine	intestine
18	chr14:55589600-55594600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:55589800-55593200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr14:55589800-55594000	Weak transcription	HSMM	muscle
21	chr14:55589800-55595600	Weak transcription	Colon Smooth Muscle	Colon
22	chr14:55590000-55592000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:55590000-55592000	Weak transcription	GM12878-XiMat	blood
24	chr14:55590000-55593800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:55590000-55595400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr14:55590000-55595600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:55590000-55595600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:55590200-55592000	Weak transcription	HMEC	breast
29	chr14:55590200-55592600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:55590200-55593200	Enhancers	Colonic Mucosa	Colon
31	chr14:55590200-55593800	Enhancers	Duodenum Mucosa	Duodenum
32	chr14:55590200-55594000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:55590200-55595800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:55590400-55592200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:55590400-55592200	Weak transcription	NHLF	lung
36	chr14:55590400-55593800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr14:55590400-55593800	Weak transcription	NHDF-Ad	bronchial
38	chr14:55590400-55595000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:55590400-55595600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:55590600-55592400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr14:55590600-55593600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:55590600-55593600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr14:55590800-55592200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:55590800-55592200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:55590800-55592200	Weak transcription	NHEK	skin
46	chr14:55590800-55592400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:55590800-55592600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:55590800-55593400	Enhancers	Hela-S3	cervix
49	chr14:55590800-55593600	Weak transcription	Osteobl	bone
50	chr14:55590800-55594200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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