Variant report

Variant	rs2691209
Chromosome Location	chr19:51524204-51524205
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr19:51524162-51524835	HCT-116	colon:	n/a	n/a
2	CTCF	chr19:51524023-51524866	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr19:51524144-51524808	MCF-7	breast:	n/a	n/a
4	CTCF	chr19:51524202-51524761	MCF-7	breast:	n/a	n/a
5	ZNF384	chr19:51524088-51524630	K562	blood:	n/a	n/a
6	CTCF	chr19:51524174-51524795	HCT-116	colon:	n/a	n/a
7	RUNX3	chr19:51524200-51524637	GM12878	blood:	n/a	n/a
8	SMC3	chr19:51524099-51524813	SK-N-SH	brain:	n/a	n/a
9	RAD21	chr19:51524179-51524737	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr19:51524153-51524881	HCT-116	colon:	n/a	n/a
11	RAD21	chr19:51524162-51524753	MCF-7	breast:	n/a	n/a
12	CTCF	chr19:51524023-51524933	A549	lung:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51523695..51525833-chr19:51599486..51602295,2	MCF-7	breast:
2	chr19:51306795..51309015-chr19:51522024..51524887,2	K562	blood:
3	chr19:51524135..51524909-chr19:51597651..51598678,4	MCF-7	breast:
4	chr19:51523978..51524825-chr19:51597718..51598615,2	MCF-7	breast:
5	chr19:51524037..51526219-chr19:51552283..51555072,2	MCF-7	breast:
6	chr19:51524028..51524914-chr19:51597949..51598637,4	K562	blood:
7	chr19:51523891..51526100-chr19:51527596..51530914,4	MCF-7	breast:
8	chr19:51524140..51524780-chr19:51600410..51601297,2	MCF-7	breast:
9	chr19:51523995..51524912-chr19:51599448..51600846,4	K562	blood:

No data

Variant related genes	Relation type
KLK10	TF binding region
ENSG00000167747	Chromatin interaction
ENSG00000167757	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1048344	0.93[EUR][1000 genomes]
rs1061368	0.83[ASN][1000 genomes]
rs12981039	0.84[ASN][1000 genomes]
rs2075696	0.81[ASN][1000 genomes]
rs2304156	0.83[ASN][1000 genomes]
rs2569443	0.81[ASN][1000 genomes]
rs2691208	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2691257	0.80[ASN][1000 genomes]
rs2739429	0.81[ASN][1000 genomes]
rs2739436	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7259451	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912291	chr19:51505725-51537682	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51522000-51524400	Bivalent Enhancer	Fetal Stomach	stomach
2	chr19:51522600-51525800	Weak transcription	Gastric	stomach
3	chr19:51523000-51524400	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr19:51523000-51524600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:51523000-51524800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:51523000-51524800	Enhancers	Brain Anterior Caudate	brain
7	chr19:51523200-51524600	Enhancers	K562	blood
8	chr19:51523400-51524600	Enhancers	NHEK	skin
9	chr19:51523400-51524800	Enhancers	Brain Hippocampus Middle	brain
10	chr19:51523400-51524800	Enhancers	HMEC	breast
11	chr19:51523400-51527400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:51523400-51549000	Weak transcription	Right Atrium	heart
13	chr19:51523600-51524600	Weak transcription	Pancreas	Pancrea
14	chr19:51523600-51525000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:51523800-51524600	Weak transcription	Ovary	ovary
16	chr19:51523800-51526200	Weak transcription	Esophagus	oesophagus
17	chr19:51523800-51528600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:51524000-51524400	Weak transcription	Brain Substantia Nigra	brain
19	chr19:51524000-51525000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr19:51524000-51525600	Weak transcription	Spleen	Spleen
21	chr19:51524200-51524400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr19:51524200-51524400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr19:51524200-51524800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr19:51524200-51524800	Enhancers	Adipose Nuclei	Adipose
25	chr19:51524200-51524800	Enhancers	Brain Cingulate Gyrus	brain
26	chr19:51524200-51525000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr19:51524200-51525000	Enhancers	HUES48 Cell Line	embryonic stem cell

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