Variant report

Variant	rs37964
Chromosome Location	chr7:8004981-8004982
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	MTA3	chr7:8004980-8006734	GM12878	blood:	n/a	n/a
2	TCF12	chr7:8004923-8005361	SK-N-SH	brain:	n/a	n/a
3	GATA2	chr7:8004865-8005419	SH-SY5Y	brain:	n/a	chr7:8005241-8005249
4	EP300	chr7:8004043-8006407	SK-N-SH	brain:	n/a	chr7:8006347-8006361 chr7:8004197-8004211 chr7:8004081-8004095 chr7:8005414-8005428
5	EP300	chr7:8004889-8005361	SK-N-SH_RA	brain:	n/a	n/a
6	NRF1	chr7:8004874-8005053	GM12878	blood:	n/a	n/a
7	GATA3	chr7:8004900-8005425	SK-N-SH	brain:	n/a	chr7:8005241-8005249
8	EP300	chr7:8004810-8005321	SK-N-SH_RA	brain:	n/a	n/a
9	GATA3	chr7:8004881-8005429	SH-SY5Y	brain:	n/a	chr7:8005241-8005249

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7719627..7722096-chr7:8004642..8007515,2	MCF-7	breast:

Variant related genes	Relation type
GLCCI1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs37961	0.82[ASN][1000 genomes]
rs37962	0.91[EUR][1000 genomes]
rs37963	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs37965	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs37966	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs37967	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs37970	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][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
rs37964	GLCCI1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 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	chr7:8003200-8007000	Weak transcription	Osteobl	bone
9	chr7:8003200-8007200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:8003200-8007600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:8003200-8007600	Weak transcription	NH-A	brain
12	chr7:8003800-8005400	Enhancers	Primary B cells from cord blood	blood
13	chr7:8003800-8006000	Enhancers	Primary T cells from cord blood	blood
14	chr7:8003800-8007600	Enhancers	Fetal Thymus	thymus
15	chr7:8004000-8005200	Enhancers	GM12878-XiMat	blood
16	chr7:8004200-8005000	Enhancers	Duodenum Mucosa	Duodenum
17	chr7:8004200-8005200	Enhancers	Dnd41	blood
18	chr7:8004200-8005400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr7:8004200-8005400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr7:8004200-8005600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr7:8004200-8005600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr7:8004200-8005600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr7:8004400-8005000	Flanking Active TSS	Thymus	Thymus
24	chr7:8004400-8005200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:8004400-8006000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr7:8004600-8007000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:8004800-8007000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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