Variant report

Variant	rs38001
Chromosome Location	chr7:8037529-8037530
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:8036138..8037716-chr7:8042545..8044678,2	K562	blood:
2	chr7:8007607..8011988-chr7:8034426..8038350,7	MCF-7	breast:
3	chr7:8029061..8031816-chr7:8036537..8038816,2	K562	blood:
4	chr7:8036346..8039148-chr7:8042456..8045408,2	MCF-7	breast:
5	chr7:8023684..8026582-chr7:8035460..8038247,2	MCF-7	breast:
6	chr7:8028828..8030747-chr7:8034985..8037908,2	MCF-7	breast:
7	chr7:8031148..8034343-chr7:8035102..8037694,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106415	Chromatin interaction
ENSG00000233108	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10215645	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10226050	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10228900	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10229643	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10231036	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10241457	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10243846	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10247928	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10248588	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10258788	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10273241	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10486205	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11984078	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12702692	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12702693	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2079853	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2109382	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2191321	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2348774	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs258853	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28488572	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28670736	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3735457	0.81[AMR][1000 genomes]
rs37975	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs37977	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs37978	0.82[EUR][1000 genomes]
rs37981	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs37983	0.82[EUR][1000 genomes]
rs37988	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs37992	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs37994	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs37995	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs37998	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs37999	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs38002	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs38003	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs38004	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs38006	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs38010	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs38011	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs38012	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs38013	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs38014	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs38016	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs38017	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs38018	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs38019	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs38021	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs38022	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs38023	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4236406	0.84[AMR][1000 genomes]
rs4720761	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4725057	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4725060	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4725068	0.81[AMR][1000 genomes]
rs62433404	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7785493	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9692283	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1030180	chr7:7860424-8059221	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1020161	chr7:7929384-8047553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs38001	GLCCI1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8015000-8045000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:8029000-8039000	Weak transcription	Thymus	Thymus
3	chr7:8029200-8043600	Weak transcription	Small Intestine	intestine
4	chr7:8029800-8046400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:8029800-8049000	Weak transcription	Fetal Heart	heart
6	chr7:8033200-8039000	Weak transcription	Dnd41	blood
7	chr7:8033600-8043600	Weak transcription	Primary B cells from cord blood	blood
8	chr7:8034600-8039000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:8035200-8038000	Weak transcription	Fetal Thymus	thymus
10	chr7:8035200-8045000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:8035600-8038600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:8036000-8044200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:8036400-8041400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:8036400-8043600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:8036400-8044400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:8036400-8044400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:8036400-8045000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:8036400-8046600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:8036400-8077400	Weak transcription	Right Ventricle	heart
20	chr7:8036600-8039000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:8036600-8040800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:8036600-8044200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr7:8036600-8044600	Weak transcription	Osteobl	bone
24	chr7:8036600-8045600	Weak transcription	Liver	Liver
25	chr7:8036600-8045600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:8036600-8045800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:8036600-8045800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:8036600-8053800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr7:8036600-8057200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:8036600-8064400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:8036600-8064400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:8036600-8074600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:8036800-8037800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:8036800-8042800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:8036800-8043200	Weak transcription	Hela-S3	cervix
36	chr7:8036800-8043800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:8036800-8043800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:8036800-8044200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:8036800-8046400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:8037000-8038000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr7:8037200-8038200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:8037400-8043800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr7:8037400-8044200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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