Variant report

Variant	rs17131715
Chromosome Location	chr1:93741364-93741365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr1:93740959-93741761	HepG2	liver:	n/a	n/a
2	HEY1	chr1:93741088-93741880	HepG2	liver:	n/a	n/a
3	MAFK	chr1:93741310-93741846	HepG2	liver:	n/a	chr1:93741555-93741564 chr1:93741554-93741564
4	MYBL2	chr1:93741180-93741861	HepG2	liver:	n/a	n/a
5	MBD4	chr1:93741158-93741877	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:93741235-93741444	HepG2	liver:	n/a	n/a
7	RAD21	chr1:93741119-93741768	HepG2	liver:	n/a	n/a
8	SP1	chr1:93741110-93741906	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:93741153-93741843	HepG2	liver:	n/a	n/a
10	FOXA1	chr1:93741125-93741482	HepG2	liver:	n/a	n/a
11	TEAD4	chr1:93741029-93742018	HepG2	liver:	n/a	n/a
12	HNF4G	chr1:93741076-93741392	HepG2	liver:	n/a	chr1:93741189-93741201 chr1:93741189-93741202 chr1:93741188-93741201 chr1:93741188-93741200 chr1:93741189-93741202 chr1:93741184-93741206 chr1:93741189-93741201
13	FOXA2	chr1:93741010-93741729	HepG2	liver:	n/a	n/a
14	NFIC	chr1:93740982-93741911	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:93741242-93741884	HepG2	liver:	n/a	n/a
16	HDAC2	chr1:93741353-93741805	HepG2	liver:	n/a	chr1:93741356-93741364
17	HNF4A	chr1:93741096-93741398	HepG2	liver:	n/a	chr1:93741189-93741201 chr1:93741189-93741202 chr1:93741188-93741201 chr1:93741188-93741200 chr1:93741189-93741202 chr1:93741184-93741206 chr1:93741189-93741201
18	FOXA2	chr1:93741064-93741449	HepG2	liver:	n/a	n/a
19	FOXA1	chr1:93741137-93741393	HepG2	liver:	n/a	n/a
20	HEY1	chr1:93741187-93741441	HepG2	liver:	n/a	n/a
21	MYBL2	chr1:93740959-93741997	HepG2	liver:	n/a	n/a
22	RXRA	chr1:93741122-93741455	HepG2	liver:	n/a	chr1:93741188-93741197 chr1:93741182-93741204
23	YY1	chr1:93741230-93741757	HepG2	liver:	n/a	n/a
24	ARID3A	chr1:93741058-93741854	HepG2	liver:	n/a	n/a
25	EP300	chr1:93741027-93741766	HepG2	liver:	n/a	n/a
26	MAX	chr1:93741166-93741852	HepG2	liver:	n/a	n/a
27	FOXA1	chr1:93740948-93741905	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:93741342-93741392	HAEpiC	amniotic membrane:	n/a
2	chr1:93741342-93741392	SKMC	muscle:	n/a
3	chr1:93741342-93741392	PANC-1	pancreas:	n/a
4	chr1:93741342-93741392	HRPEpiC	eye:	n/a
5	chr1:93741342-93741392	ProgFib	skin:	n/a
6	chr1:93741342-93741392	HIPEpiC	eye:	n/a
7	chr1:93741342-93741392	NHBE	bronchial:	n/a
8	chr1:93741342-93741392	HNPCEpiC	eye:	n/a
9	chr1:93741342-93741392	H1-hESC	embryonic stem cell:	embryo
10	chr1:93741342-93741392	AG10803	skin:	n/a
11	chr1:93741342-93741392	GM19239	blood:	n/a
12	chr1:93741342-93741392	RPTEC	kidney:	n/a
13	chr1:93741342-93741392	ovcar-3	ovarian:	n/a
14	chr1:93741342-93741392	GM12891	blood:	n/a
15	chr1:93741342-93741392	NH-A	brain:	n/a
16	chr1:93741342-93741392	NB4	blood:	n/a
17	chr1:93741342-93741392	GM12892	blood:	n/a
18	chr1:93741342-93741392	SK-N-SH	brain:	n/a
19	chr1:93741342-93741392	Hepatocyte	liver:	n/a
20	chr1:93741342-93741392	HCT-116	colon:	n/a
21	chr1:93741342-93741392	AG04450	lung:	fetal
22	chr1:93741342-93741392	Hela-S3	cervix:	n/a
23	chr1:93741342-93741392	IMR90	lung:	fetal
24	chr1:93741342-93741392	ECC-1	luminal epithelium:	n/a
25	chr1:93741342-93741392	A549	lung:	n/a
26	chr1:93741342-93741392	HCPEpiC	choroid plexus:	n/a
27	chr1:93741342-93741392	AG09319	gingival:	n/a
28	chr1:93741342-93741392	HMEC	breast:	n/a
29	chr1:93741342-93741392	HPAEpiC	pulmonary alveolar:	n/a
30	chr1:93741342-93741392	HEEpiC	esophagus:	n/a
31	chr1:93741342-93741392	LNCaP	prostate:	n/a
32	chr1:93741342-93741392	MCF-7	breast:	n/a
33	chr1:93741342-93741392	AG09309	skin:	n/a
34	chr1:93741342-93741392	AG04449	skin:	fetal
35	chr1:93741342-93741392	CMK	blood:	n/a
36	chr1:93741342-93741392	NT2-D1	testis:	n/a
37	chr1:93741342-93741392	Jurkat	blood:	n/a
38	chr1:93741342-93741392	PrEC	prostate:	n/a
39	chr1:93741342-93741392	MCF10A-Er-Src	breast:	n/a
40	chr1:93741342-93741392	HCF	heart:	n/a
41	chr1:93741342-93741392	HepG2	liver:	n/a
42	chr1:93741342-93741392	AoSMC	blood vessel:	n/a
43	chr1:93741342-93741392	NHDF-neo	bronchial:	n/a
44	chr1:93741342-93741392	SK-N-SH_RA	brain:	n/a
45	chr1:93741342-93741392	K562	blood:	n/a
46	chr1:93741342-93741392	SAEC	small airway:	n/a
47	chr1:93741342-93741392	SK-N-MC	brain:	n/a
48	chr1:93741342-93741392	U87	brain:	n/a
49	chr1:93741342-93741392	GM12878	blood:	n/a
50	chr1:93741342-93741392	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93734547..93737745-chr1:93739602..93742236,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223745	TF binding region
ENSG00000223745	CpG island

rs_ID	r²[population]
rs10157785	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1054165	1.00[EUR][1000 genomes]
rs11799859	1.00[EUR][1000 genomes]
rs11801977	1.00[EUR][1000 genomes]
rs11802421	1.00[EUR][1000 genomes]
rs11805046	1.00[EUR][1000 genomes]
rs11807404	1.00[EUR][1000 genomes]
rs11808266	1.00[EUR][1000 genomes]
rs12239921	1.00[EUR][1000 genomes]
rs17109954	1.00[EUR][1000 genomes]
rs17110016	1.00[EUR][1000 genomes]
rs17131717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1932313	1.00[EUR][1000 genomes]
rs35555794	1.00[EUR][1000 genomes]
rs55940503	1.00[EUR][1000 genomes]
rs55959166	1.00[EUR][1000 genomes]
rs57353954	1.00[EUR][1000 genomes]
rs58351576	1.00[EUR][1000 genomes]
rs58505360	1.00[EUR][1000 genomes]
rs59045869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60032869	1.00[EUR][1000 genomes]
rs60046384	1.00[EUR][1000 genomes]
rs60517691	1.00[EUR][1000 genomes]
rs60868033	1.00[EUR][1000 genomes]
rs61215181	1.00[EUR][1000 genomes]
rs61671588	1.00[EUR][1000 genomes]
rs6541360	1.00[EUR][1000 genomes]
rs6541378	1.00[EUR][1000 genomes]
rs6664053	1.00[EUR][1000 genomes]
rs6677862	1.00[EUR][1000 genomes]
rs6678465	1.00[EUR][1000 genomes]
rs6682265	1.00[EUR][1000 genomes]
rs6687167	1.00[EUR][1000 genomes]
rs6688132	1.00[EUR][1000 genomes]
rs6688513	1.00[EUR][1000 genomes]
rs6691556	1.00[EUR][1000 genomes]
rs6703963	1.00[EUR][1000 genomes]
rs72955374	1.00[EUR][1000 genomes]
rs72955379	1.00[EUR][1000 genomes]
rs72957300	1.00[EUR][1000 genomes]
rs72961310	1.00[EUR][1000 genomes]
rs74101439	1.00[EUR][1000 genomes]
rs74101447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101603	1.00[EUR][1000 genomes]
rs74104033	1.00[EUR][1000 genomes]
rs7518171	1.00[EUR][1000 genomes]
rs7525388	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7530923	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7545358	1.00[EUR][1000 genomes]
rs754899	1.00[EUR][1000 genomes]
rs9662414	1.00[EUR][1000 genomes]

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93647000-93756400	Weak transcription	Gastric	stomach
2	chr1:93647200-93757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:93692200-93787800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:93720000-93762000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:93727800-93741600	Weak transcription	Fetal Kidney	kidney
6	chr1:93728600-93741400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:93728600-93751400	Weak transcription	Adipose Nuclei	Adipose
8	chr1:93728600-93754800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:93728600-93764400	Weak transcription	Psoas Muscle	Psoas
10	chr1:93728600-93769400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:93728600-93770400	Weak transcription	HSMM	muscle
12	chr1:93728800-93746600	Weak transcription	Aorta	Aorta
13	chr1:93728800-93751600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:93728800-93751800	Weak transcription	Placenta	Placenta
15	chr1:93728800-93752600	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:93728800-93752600	Weak transcription	Fetal Stomach	stomach
17	chr1:93728800-93753800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:93728800-93754800	Weak transcription	Ovary	ovary
19	chr1:93728800-93755000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:93728800-93755000	Weak transcription	Left Ventricle	heart
21	chr1:93728800-93755000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:93728800-93778200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:93729000-93745600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:93729000-93790200	Weak transcription	Osteobl	bone
25	chr1:93729600-93741800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:93729800-93745400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:93729800-93752600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:93729800-93754800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:93729800-93763200	Weak transcription	Pancreas	Pancrea
30	chr1:93730000-93745400	Weak transcription	Thymus	Thymus
31	chr1:93730000-93745600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:93730000-93754400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:93730400-93745600	Weak transcription	Fetal Lung	lung
34	chr1:93730400-93745800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr1:93730400-93748200	Weak transcription	Fetal Thymus	thymus
36	chr1:93730400-93754600	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:93730600-93752600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:93731000-93765400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr1:93731200-93745600	Weak transcription	Primary B cells from cord blood	blood
40	chr1:93731200-93745600	Weak transcription	GM12878-XiMat	blood
41	chr1:93731200-93787400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:93731600-93745400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:93731600-93745600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:93731600-93747200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:93731800-93741800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:93731800-93745400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:93731800-93752800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:93731800-93754200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:93731800-93754600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:93736400-93771200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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