Variant report

Variant	rs73693157
Chromosome Location	chr8:68154090-68154091
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:68154070-68154117	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:68153883-68154408	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:68154089-68154139	IMR90	lung:	fetal
2	chr8:68154089-68154139	HRE	kidney:	n/a
3	chr8:68154089-68154139	HAEpiC	amniotic membrane:	n/a
4	chr8:68154089-68154139	HCPEpiC	choroid plexus:	n/a
5	chr8:68154089-68154139	HRCEpiC	kidney:	n/a
6	chr8:68154089-68154139	HepG2	liver:	n/a
7	chr8:68154089-68154139	PANC-1	pancreas:	n/a
8	chr8:68154089-68154139	PFSK-1	brain:	n/a
9	chr8:68154089-68154139	HCT-116	colon:	n/a
10	chr8:68154089-68154139	NB4	blood:	n/a
11	chr8:68154089-68154139	NHDF-neo	bronchial:	n/a
12	chr8:68154089-68154139	NT2-D1	testis:	n/a
13	chr8:68154089-68154139	SK-N-MC	brain:	n/a
14	chr8:68154089-68154139	Hepatocyte	liver:	n/a
15	chr8:68154089-68154139	SK-N-SH	brain:	n/a
16	chr8:68154089-68154139	K562	blood:	n/a
17	chr8:68154089-68154139	HPAEpiC	pulmonary alveolar:	n/a
18	chr8:68154089-68154139	GM19239	blood:	n/a
19	chr8:68154089-68154139	HNPCEpiC	eye:	n/a
20	chr8:68154089-68154139	AoSMC	blood vessel:	n/a
21	chr8:68154089-68154139	SAEC	small airway:	n/a
22	chr8:68154089-68154139	U87	brain:	n/a
23	chr8:68154089-68154139	Hela-S3	cervix:	n/a
24	chr8:68154089-68154139	AG10803	skin:	n/a
25	chr8:68154089-68154139	Jurkat	blood:	n/a
26	chr8:68154089-68154139	HIPEpiC	eye:	n/a
27	chr8:68154089-68154139	ovcar-3	ovarian:	n/a
28	chr8:68154089-68154139	HCM	heart:	n/a
29	chr8:68154089-68154139	HL-60	blood:	n/a
30	chr8:68154089-68154139	MCF-7	breast:	n/a
31	chr8:68154089-68154139	H1-hESC	embryonic stem cell:	embryo
32	chr8:68154089-68154139	HCF	heart:	n/a
33	chr8:68154089-68154139	HUVEC	blood vessel:	n/a
34	chr8:68154089-68154139	SKMC	muscle:	n/a
35	chr8:68154089-68154139	A549	lung:	n/a
36	chr8:68154089-68154139	GM12878	blood:	n/a
37	chr8:68154089-68154139	NH-A	brain:	n/a
38	chr8:68154089-68154139	HEEpiC	esophagus:	n/a
39	chr8:68154089-68154139	GM12891	blood:	n/a
40	chr8:68154089-68154139	HRPEpiC	eye:	n/a
41	chr8:68154089-68154139	AG04449	skin:	fetal
42	chr8:68154089-68154139	HEK293	kidney:	embryo
43	chr8:68154089-68154139	RPTEC	kidney:	n/a
44	chr8:68154089-68154139	BE2_C	brain:	n/a
45	chr8:68154089-68154139	ECC-1	luminal epithelium:	n/a
46	chr8:68154089-68154139	AG09319	gingival:	n/a
47	chr8:68154089-68154139	T-47D	breast:	n/a
48	chr8:68154089-68154139	PrEC	prostate:	n/a
49	chr8:68154089-68154139	MCF10A-Er-Src	breast:	n/a
50	chr8:68154089-68154139	CMK	blood:	n/a

No data

Variant related genes	Relation type
ARFGEF1	TF binding region
ARFGEF1	CpG island

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11987016	1.00[AMR][1000 genomes]
rs11991868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995838	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996976	1.00[AMR][1000 genomes]
rs16933261	1.00[AMR][1000 genomes]
rs55890263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56115531	1.00[AMR][1000 genomes]
rs56171881	1.00[AMR][1000 genomes]
rs56322915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56675350	1.00[AMR][1000 genomes]
rs56946170	1.00[AMR][1000 genomes]
rs60435775	1.00[AMR][1000 genomes]
rs60452538	1.00[AMR][1000 genomes]
rs61559694	0.88[AFR][1000 genomes]
rs6987385	1.00[AMR][1000 genomes]
rs73691181	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691184	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691320	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691326	1.00[AMR][1000 genomes]
rs73691328	1.00[AMR][1000 genomes]
rs73691329	1.00[AMR][1000 genomes]
rs73693108	1.00[AMR][1000 genomes]
rs73693123	1.00[AMR][1000 genomes]
rs73693186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7815796	1.00[AMR][1000 genomes]
rs7815839	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7820540	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68103600-68158200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:68104600-68193000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:68104600-68215600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr8:68104800-68159600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:68104800-68182400	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:68105000-68184400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr8:68105600-68158800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:68113000-68172600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:68117000-68154200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:68119000-68157200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:68128000-68154200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:68135200-68156000	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr8:68135200-68184400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:68136000-68154800	Weak transcription	Stomach Mucosa	stomach
15	chr8:68139000-68178000	Weak transcription	Small Intestine	intestine
16	chr8:68139200-68154200	Weak transcription	Aorta	Aorta
17	chr8:68139200-68155000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:68139600-68161400	Weak transcription	Fetal Brain Male	brain
19	chr8:68139800-68154200	Weak transcription	Right Ventricle	heart
20	chr8:68139800-68154800	Weak transcription	Fetal Kidney	kidney
21	chr8:68139800-68154800	Weak transcription	K562	blood
22	chr8:68139800-68162200	Weak transcription	A549	lung
23	chr8:68140400-68155200	Weak transcription	Hela-S3	cervix
24	chr8:68142000-68158800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:68142800-68155000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr8:68143600-68154400	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:68143600-68156000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr8:68143800-68158600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:68144200-68154200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:68146000-68157400	Strong transcription	Adipose Nuclei	Adipose
31	chr8:68146000-68168200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:68147800-68154400	Weak transcription	Brain Germinal Matrix	brain
33	chr8:68148800-68156200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr8:68149000-68154200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:68149000-68155000	Weak transcription	Pancreas	Pancrea
36	chr8:68149000-68157400	Weak transcription	HUVEC	blood vessel
37	chr8:68149200-68154200	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:68149600-68167200	Weak transcription	Fetal Heart	heart
39	chr8:68149800-68173000	Weak transcription	Psoas Muscle	Psoas
40	chr8:68150200-68154800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:68150400-68154200	Weak transcription	Colon Smooth Muscle	Colon
42	chr8:68150400-68154600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:68150600-68161600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:68150800-68154200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:68150800-68154200	Weak transcription	NHEK	skin
46	chr8:68150800-68154600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr8:68150800-68154600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr8:68150800-68154800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr8:68150800-68157400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr8:68151000-68154200	Weak transcription	H1 Cell Line	embryonic stem cell

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