Variant report

Variant	rs37970
Chromosome Location	chr7:8007074-8007075
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr7:8006906-8010045	GM12878	blood:	n/a	n/a
2	MXI1	chr7:8006814-8014285	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr7:8007054-8009953	GM19193	blood:	n/a	n/a
4	POLR2A	chr7:8006896-8012163	GM12891	blood:	n/a	n/a
5	POLR2A	chr7:8006815-8012265	GM12892	blood:	n/a	n/a
6	POLR2A	chr7:8006934-8012236	GM18505	blood:	n/a	n/a
7	POLR2A	chr7:8006829-8012192	GM12892	blood:	n/a	n/a
8	POLR2A	chr7:8006998-8013228	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:8006897-8012170	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:8006956-8012121	GM19099	blood:	n/a	n/a
11	POLR2A	chr7:8006821-8012204	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:7947370..7958537-chr7:8006160..8010935,22	MCF-7	breast:
2	chr7:8006099..8007957-chr7:8009237..8011123,2	K562	blood:
3	chr7:8006167..8007991-chr7:8049393..8051817,2	MCF-7	breast:
4	chr7:8006325..8007944-chr7:8163309..8164919,2	MCF-7	breast:
5	chr7:8005895..8007623-chr7:8257262..8259034,2	K562	blood:
6	chr7:7719627..7722096-chr7:8004642..8007515,2	MCF-7	breast:
7	chr7:8006834..8014864-chr7:8015250..8023851,23	K562	blood:
8	chr7:8006704..8009086-chr7:8043010..8045321,2	MCF-7	breast:

No data

Variant related genes	Relation type
GLCCI1	TF binding region
ENSG00000003147	Chromatin interaction
ENSG00000106415	Chromatin interaction
ENSG00000233108	Chromatin interaction
ENSG00000233264	Chromatin interaction
ENSG00000214998	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs37962	0.96[EUR][1000 genomes]
rs37963	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs37964	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs37965	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs37966	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs37967	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs37975	0.91[AFR][1000 genomes]
rs37981	0.80[AFR][1000 genomes]
rs37998	0.81[AFR][1000 genomes]
rs37999	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
rs37970	GLCCI1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7985400-8007600	Weak transcription	Psoas Muscle	Psoas
2	chr7:7986800-8007800	Weak transcription	Ovary	ovary
3	chr7:7996800-8007400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:8002600-8007800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:8003000-8007200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:8003000-8007200	Weak transcription	NHDF-Ad	bronchial
7	chr7:8003000-8007400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:8003200-8007200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:8003200-8007600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:8003200-8007600	Weak transcription	NH-A	brain
11	chr7:8003800-8007600	Enhancers	Fetal Thymus	thymus
12	chr7:8005000-8007200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:8005400-8007200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:8006000-8007200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:8006000-8007200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:8006400-8007200	Enhancers	Primary B cells from cord blood	blood
17	chr7:8006400-8007200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr7:8006600-8007200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:8006800-8007400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr7:8007000-8007200	Enhancers	Primary T cells from cord blood	blood
21	chr7:8007000-8007200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr7:8007000-8007200	Enhancers	Primary hematopoietic stem cells	blood
23	chr7:8007000-8007200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr7:8007000-8007200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr7:8007000-8007200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr7:8007000-8007200	Enhancers	HMEC	breast
27	chr7:8007000-8007200	Active TSS	Monocytes-CD14+_RO01746	blood
28	chr7:8007000-8007200	Enhancers	Osteobl	bone
29	chr7:8007000-8007400	Enhancers	Primary B cells from peripheral blood	blood
30	chr7:8007000-8007400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:8007000-8007400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:8007000-8007400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr7:8007000-8007400	Enhancers	Dnd41	blood
34	chr7:8007000-8007600	Flanking Active TSS	Thymus	Thymus
35	chr7:8007000-8007600	Flanking Active TSS	GM12878-XiMat	blood
36	chr7:8007000-8007800	Enhancers	Fetal Heart	heart
37	chr7:8007000-8008200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:8007000-8008200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:8007000-8010200	Active TSS	Rectal Mucosa Donor 31	rectum

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