Variant report

Variant	rs37994
Chromosome Location	chr7:8028754-8028755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:8026444..8027944-chr7:8028522..8030290,2	MCF-7	breast:
2	chr7:8016338..8018811-chr7:8026553..8029436,2	MCF-7	breast:
3	chr7:8008849..8010688-chr7:8026210..8029126,2	K562	blood:
4	chr7:8007272..8010688-chr7:8026210..8029126,4	K562	blood:
5	chr7:8008498..8010379-chr7:8028683..8031469,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233108	Chromatin interaction
ENSG00000106415	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10215645	0.82[AMR][1000 genomes]
rs10226050	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10228900	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10229643	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10231036	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs10241457	1.00[CEU][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10243846	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10246564	0.85[CEU][hapmap]
rs10247928	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10248588	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10258788	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10273241	1.00[CEU][hapmap]
rs10486205	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11984078	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12702693	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2109382	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2191321	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2348774	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs258853	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28488572	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28670736	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3735457	0.85[CEU][hapmap]
rs37967	0.82[TSI][hapmap]
rs37975	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs37977	1.00[CEU][hapmap];0.87[GIH][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs37978	0.86[EUR][1000 genomes]
rs37981	1.00[CEU][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs37983	0.85[EUR][1000 genomes]
rs37988	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs37992	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs37995	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[GIH][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs37997	0.91[MEX][hapmap]
rs37998	1.00[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs37999	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs38001	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs38002	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs38003	0.92[CEU][hapmap];0.85[CHB][hapmap];0.81[GIH][hapmap];0.86[MEX][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs38004	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs38006	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs38010	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs38011	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs38012	1.00[CEU][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs38013	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs38014	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs38016	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs38017	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs38018	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[GIH][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs38019	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs38021	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs38022	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs38023	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4140809	0.91[MEX][hapmap]
rs4236406	0.82[CEU][hapmap]
rs4720761	1.00[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4725057	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4725060	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs4725068	0.84[TSI][hapmap]
rs62433404	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7785493	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9692283	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.82[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
rs37994	GLCCI1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8013400-8029000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:8013400-8029600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:8015000-8045000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:8015200-8031800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:8017800-8029000	Weak transcription	Hela-S3	cervix
6	chr7:8017800-8029600	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:8017800-8029600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:8018000-8029000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:8019000-8031400	Weak transcription	Primary B cells from cord blood	blood
10	chr7:8019600-8029400	Weak transcription	Adipose Nuclei	Adipose
11	chr7:8021600-8029000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr7:8022000-8028800	Weak transcription	Brain Germinal Matrix	brain
13	chr7:8024000-8028800	Weak transcription	Small Intestine	intestine
14	chr7:8024000-8029200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr7:8025000-8029600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:8025000-8031600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:8025200-8029000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:8025200-8029200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr7:8026400-8029200	Enhancers	K562	blood
20	chr7:8026400-8031000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:8026600-8029000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:8026600-8029000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr7:8026600-8029400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:8026600-8029400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr7:8026800-8028800	Enhancers	Dnd41	blood
26	chr7:8026800-8029000	Enhancers	Thymus	Thymus
27	chr7:8027600-8029200	Enhancers	Primary hematopoietic stem cells	blood
28	chr7:8027600-8029200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:8027600-8029400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr7:8027600-8034800	Weak transcription	Fetal Thymus	thymus
31	chr7:8027800-8029000	Enhancers	GM12878-XiMat	blood
32	chr7:8027800-8029400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:8028000-8029200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:8028200-8029200	Enhancers	Fetal Heart	heart
35	chr7:8028400-8028800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:8028400-8029400	Enhancers	Liver	Liver
37	chr7:8028600-8028800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:8028600-8029000	Enhancers	Primary B cells from peripheral blood	blood
39	chr7:8028600-8029000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr7:8028600-8029000	Weak transcription	Osteobl	bone
41	chr7:8028600-8029200	Enhancers	Rectal Smooth Muscle	rectum
42	chr7:8028600-8029400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr7:8028600-8029600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr7:8028600-8030000	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr7:8028600-8030000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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