Variant report

Variant	rs17568389
Chromosome Location	chr7:8091876-8091877
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr7:8091817-8091894	HepG2	liver:	n/a	chr7:8091877-8091892
2	MAFK	chr7:8091777-8091977	HepG2	liver:	n/a	chr7:8091877-8091892
3	MAFF	chr7:8091841-8091957	HepG2	liver:	n/a	chr7:8091876-8091894

Variant related genes	Relation type
GLCCI1	TF binding region

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

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10215645	0.94[ASN][1000 genomes]
rs10226050	0.87[JPT][hapmap];0.97[YRI][hapmap];0.84[AFR][1000 genomes]
rs10226865	0.82[CEU][hapmap]
rs10228900	0.90[ASN][1000 genomes]
rs10229643	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10231036	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10241457	0.95[CHB][hapmap];0.92[JPT][hapmap];0.86[YRI][hapmap];0.92[ASN][1000 genomes]
rs10243846	0.90[CHB][hapmap];0.93[JPT][hapmap];0.90[YRI][hapmap];0.86[ASN][1000 genomes]
rs10247928	0.87[ASN][1000 genomes]
rs10248588	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10258788	0.85[ASN][1000 genomes]
rs10264999	0.83[CEU][hapmap]
rs10273241	0.95[CHB][hapmap];0.93[JPT][hapmap];0.84[YRI][hapmap];0.91[ASN][1000 genomes]
rs10278726	0.92[CEU][hapmap]
rs10486205	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11976862	0.83[YRI][hapmap]
rs11981372	0.83[CEU][hapmap]
rs11984078	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12702692	0.96[ASN][1000 genomes]
rs12702693	0.94[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs2079853	0.93[ASN][1000 genomes]
rs2109382	0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2191321	0.95[CHB][hapmap];0.93[JPT][hapmap];0.87[YRI][hapmap];0.93[ASN][1000 genomes]
rs2348774	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs258851	0.83[CEU][hapmap]
rs258853	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs28488572	0.85[ASN][1000 genomes]
rs28670736	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs3735457	0.90[YRI][hapmap]
rs37974	0.90[YRI][hapmap]
rs37976	0.82[CEU][hapmap]
rs37977	0.86[JPT][hapmap];0.90[YRI][hapmap]
rs37981	0.84[JPT][hapmap];0.86[YRI][hapmap]
rs37986	0.83[CEU][hapmap]
rs37987	0.83[CEU][hapmap]
rs37988	0.80[CHB][hapmap];0.93[JPT][hapmap];0.87[YRI][hapmap]
rs37995	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[ASN][1000 genomes]
rs37997	0.96[CEU][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes]
rs37998	0.84[CHB][hapmap];0.92[JPT][hapmap];0.86[YRI][hapmap]
rs37999	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs38002	0.94[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.80[ASN][1000 genomes]
rs38003	0.89[CHB][hapmap];0.92[JPT][hapmap];0.89[YRI][hapmap];0.80[ASN][1000 genomes]
rs38004	0.95[CHB][hapmap];0.93[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs38007	0.96[CEU][hapmap]
rs38008	0.82[CEU][hapmap]
rs38009	0.83[CEU][hapmap]
rs38011	0.95[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.81[ASN][1000 genomes]
rs38012	0.95[CHB][hapmap];0.92[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs38013	0.95[CHB][hapmap];0.92[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs38014	0.90[CHB][hapmap];0.93[JPT][hapmap];0.97[YRI][hapmap];0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs38015	0.83[CEU][hapmap]
rs38016	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs38017	0.81[ASN][1000 genomes]
rs38018	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs38019	0.95[CHB][hapmap];0.93[JPT][hapmap];0.90[YRI][hapmap];0.81[ASN][1000 genomes]
rs38021	0.95[CHB][hapmap];0.93[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs38022	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs38023	0.85[ASN][1000 genomes]
rs4140809	0.83[YRI][hapmap]
rs4236406	0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs4256496	0.83[CEU][hapmap]
rs4720761	0.95[CHB][hapmap];0.92[JPT][hapmap];0.86[YRI][hapmap];0.92[ASN][1000 genomes]
rs4725055	0.82[CEU][hapmap]
rs4725057	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4725060	0.90[CHB][hapmap];0.92[JPT][hapmap];0.97[YRI][hapmap];0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4725065	0.96[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4725068	0.86[YRI][hapmap]
rs62433404	0.80[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7785493	0.85[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs7796831	0.85[CEU][hapmap]
rs7808399	0.82[CEU][hapmap]
rs7810540	0.83[CEU][hapmap]
rs9655516	0.82[CEU][hapmap]
rs9692283	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17568389	GLCCI1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8041600-8095000	Weak transcription	Gastric	stomach
2	chr7:8043000-8099200	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:8047600-8108200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:8064400-8096200	Weak transcription	NHLF	lung
5	chr7:8065000-8095000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:8065000-8108600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:8066400-8096600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:8066400-8127600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:8066600-8099800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:8066600-8126000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:8066800-8095000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:8066800-8095600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:8066800-8099800	Weak transcription	Brain Anterior Caudate	brain
14	chr7:8066800-8108600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr7:8067000-8135400	Weak transcription	Pancreas	Pancrea
16	chr7:8067200-8095600	Weak transcription	Fetal Lung	lung
17	chr7:8067600-8095800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:8068000-8095600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:8069800-8095800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:8075000-8108600	Weak transcription	Psoas Muscle	Psoas
21	chr7:8075000-8125800	Weak transcription	Lung	lung
22	chr7:8075000-8126800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:8075600-8095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:8075600-8095000	Weak transcription	Aorta	Aorta
25	chr7:8075600-8095000	Weak transcription	Ovary	ovary
26	chr7:8075600-8095200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:8075600-8101400	Weak transcription	K562	blood
28	chr7:8075600-8104400	Weak transcription	HMEC	breast
29	chr7:8075600-8105000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:8075600-8113000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:8075600-8131800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:8075800-8095200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr7:8075800-8095400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:8076000-8095000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:8076000-8095000	Weak transcription	Fetal Intestine Large	intestine
36	chr7:8076000-8111800	Weak transcription	Fetal Brain Male	brain
37	chr7:8076000-8124200	Weak transcription	Fetal Kidney	kidney
38	chr7:8076200-8102200	Weak transcription	Fetal Brain Female	brain
39	chr7:8076200-8108400	Weak transcription	Brain Angular Gyrus	brain
40	chr7:8076800-8095600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr7:8077000-8095000	Weak transcription	Adipose Nuclei	Adipose
42	chr7:8077000-8095000	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:8077200-8095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:8077200-8095000	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:8077200-8095000	Weak transcription	Left Ventricle	heart
46	chr7:8077200-8096600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr7:8077200-8103200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:8077200-8106800	Weak transcription	Fetal Heart	heart
49	chr7:8077400-8095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:8077400-8095600	Weak transcription	Liver	Liver

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