Variant report

Variant	rs13235719
Chromosome Location	chr7:140102340-140102341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr7:140102004-140102455	K562	blood:	n/a	n/a
2	ZMIZ1	chr7:140102217-140102440	K562	blood:	n/a	n/a
3	TCF12	chr7:140102062-140102565	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr7:140102024-140102372	MCF10A-Er-Src	breast:	n/a	n/a
5	CTCF	chr7:140102340-140102490	HCPEpiC	choroid plexus:	n/a	n/a
6	TCF12	chr7:140101968-140102748	SK-N-SH	brain:	n/a	n/a
7	FOS	chr7:140101981-140102388	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr7:140101963-140102388	MCF10A-Er-Src	breast:	n/a	n/a
9	RFX5	chr7:140102295-140102464	K562	blood:	n/a	n/a
10	ARID3A	chr7:140102152-140102398	K562	blood:	n/a	n/a
11	JUND	chr7:140102036-140102480	Hela-S3	cervix:	n/a	n/a
12	NR2F2	chr7:140102242-140102617	K562	blood:	n/a	n/a
13	NR2F2	chr7:140101905-140102707	K562	blood:	n/a	n/a
14	FOS	chr7:140101987-140102369	MCF10A-Er-Src	breast:	n/a	n/a
15	CEBPB	chr7:140101942-140102356	IMR90	lung:	n/a	n/a
16	TEAD4	chr7:140101994-140102640	K562	blood:	n/a	n/a
17	POLR2A	chr7:140102082-140102403	MCF10A-Er-Src	breast:	n/a	n/a
18	CEBPB	chr7:140101918-140102372	Hela-S3	cervix:	n/a	n/a
19	FOS	chr7:140101958-140102364	MCF10A-Er-Src	breast:	n/a	n/a
20	TAL1	chr7:140102267-140102497	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140097102..140100754-chr7:140100879..140105218,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC37A3-1	chr7:140100136-140102622	NONHSAT123678

No data

Variant related genes	Relation type
RAB19	TF binding region
SLC37A3	TF binding region
ENSG00000157800	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10251020	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10273430	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12703828	0.90[EUR][1000 genomes]
rs13229539	0.80[EUR][1000 genomes]
rs13246775	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62490400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67151693	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6970119	0.81[EUR][1000 genomes]
rs6978505	0.81[EUR][1000 genomes]
rs9640466	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022919	chr7:140043299-140120546	Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2762706	chr7:140054170-140119629	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv522190	chr7:140066411-140130663	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140098000-140103800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:140098400-140103400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:140098400-140103600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:140098400-140103600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:140098400-140103600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:140098400-140103600	Weak transcription	Small Intestine	intestine
7	chr7:140098400-140103600	Weak transcription	Spleen	Spleen
8	chr7:140098600-140103200	Weak transcription	Fetal Intestine Large	intestine
9	chr7:140098600-140103400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:140098600-140103400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:140098600-140103400	Weak transcription	Thymus	Thymus
12	chr7:140098600-140103600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:140098600-140103600	Weak transcription	Liver	Liver
14	chr7:140098600-140103600	Weak transcription	Placenta	Placenta
15	chr7:140098600-140103600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:140098800-140103000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:140098800-140103000	Weak transcription	Fetal Thymus	thymus
18	chr7:140098800-140103000	Weak transcription	HepG2	liver
19	chr7:140098800-140103200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:140098800-140103200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:140098800-140103200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:140098800-140103200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:140098800-140103200	Weak transcription	Fetal Intestine Small	intestine
24	chr7:140098800-140103400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:140098800-140103400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:140098800-140103400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:140098800-140103400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:140098800-140103400	Weak transcription	HMEC	breast
29	chr7:140098800-140103400	Weak transcription	NHEK	skin
30	chr7:140098800-140103600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:140098800-140103600	Weak transcription	Brain Angular Gyrus	brain
32	chr7:140098800-140103600	Weak transcription	Lung	lung
33	chr7:140099000-140102600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr7:140099000-140103400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr7:140099000-140103400	Weak transcription	Fetal Kidney	kidney
36	chr7:140099000-140103600	Weak transcription	Gastric	stomach
37	chr7:140099000-140103600	Weak transcription	Pancreas	Pancrea
38	chr7:140099000-140103600	Weak transcription	Dnd41	blood
39	chr7:140100600-140103000	Enhancers	Primary B cells from cord blood	blood
40	chr7:140101000-140103000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr7:140101400-140102600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr7:140101400-140103400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr7:140101400-140103800	Enhancers	K562	blood
44	chr7:140101400-140104600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr7:140101600-140102600	Enhancers	Hela-S3	cervix
46	chr7:140101600-140102800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:140101600-140102800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:140101600-140103400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr7:140101600-140103600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:140101800-140102400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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