Variant report

Variant	rs7246820
Chromosome Location	chr19:44287473-44287474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr19:44286456-44287483	Hela-S3	cervix:	n/a	n/a
2	CHD2	chr19:44286476-44287511	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr19:44286761-44287479	Hela-S3	cervix:	n/a	n/a
4	MAX	chr19:44286439-44287482	Hela-S3	cervix:	n/a	n/a
5	TFAP2A	chr19:44286655-44287484	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr19:44286734-44287561	Hela-S3	cervix:	n/a	n/a
7	MAZ	chr19:44286678-44287487	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr19:44286597-44287543	Hela-S3	cervix:	n/a	n/a
9	MAX	chr19:44284653-44287580	A549	lung:	n/a	n/a
10	TFAP2C	chr19:44285948-44287558	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr19:44286485-44287478	GM18505	blood:	n/a	n/a
12	MAX	chr19:44284808-44287558	HCT-116	colon:	n/a	n/a
13	POLR2A	chr19:44286434-44287603	GM12892	blood:	n/a	n/a
14	TCF7L2	chr19:44286603-44287481	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr19:44286823-44287501	Hela-S3	cervix:	n/a	n/a
16	ZNF384	chr19:44287192-44287625	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44254856..44260610-chr19:44285479..44289743,8	MCF-7	breast:
2	chr19:44285151..44287673-chr19:44304698..44307522,2	K562	blood:
3	chr19:44037281..44039805-chr19:44287429..44289593,2	K562	blood:
4	chr19:44287294..44289449-chr19:44292434..44295257,2	MCF-7	breast:
5	chr19:44256760..44265122-chr19:44281375..44290996,18	K562	blood:
6	chr19:44256245..44259869-chr19:44284477..44291035,7	MCF-7	breast:
7	chr19:44252620..44255396-chr19:44285758..44288205,2	MCF-7	breast:

No data

Variant related genes	Relation type
KCNN4	TF binding region
ENSG00000105771	Chromatin interaction
ENSG00000159871	Chromatin interaction
ENSG00000176472	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10422551	1.00[ASN][1000 genomes]
rs11083722	1.00[ASN][1000 genomes]
rs1971985	0.88[ASN][1000 genomes]
rs2356399	0.87[ASN][1000 genomes]
rs7250952	0.81[ASN][1000 genomes]
rs7260187	0.87[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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44282400-44289200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:44284000-44288600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:44284200-44287800	Weak transcription	Dnd41	blood
4	chr19:44284400-44287600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:44284400-44288400	Weak transcription	HUVEC	blood vessel
6	chr19:44285200-44289400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr19:44285200-44289400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr19:44285200-44289600	Enhancers	Esophagus	oesophagus
9	chr19:44285400-44288600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:44285400-44288800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr19:44285400-44291400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:44285600-44288000	Weak transcription	Primary B cells from cord blood	blood
13	chr19:44285600-44288000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:44285600-44288600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr19:44285800-44287600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr19:44285800-44288000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:44285800-44288000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr19:44285800-44288200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr19:44285800-44288200	Enhancers	NHEK	skin
20	chr19:44285800-44288400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:44285800-44288400	Weak transcription	HSMMtube	muscle
22	chr19:44285800-44288600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr19:44285800-44288600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr19:44285800-44289200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:44285800-44289400	Enhancers	Stomach Mucosa	stomach
26	chr19:44285800-44289800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr19:44286000-44287800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr19:44286000-44288000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr19:44286000-44288000	Weak transcription	NHLF	lung
30	chr19:44286000-44288200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:44286000-44288200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:44286000-44288200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:44286000-44288200	Weak transcription	HSMM	muscle
34	chr19:44286000-44288200	Weak transcription	NH-A	brain
35	chr19:44286000-44288200	Weak transcription	Osteobl	bone
36	chr19:44286000-44288400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:44286000-44289600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr19:44286600-44289800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr19:44286800-44287600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr19:44286800-44287600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:44286800-44287800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr19:44286800-44287800	Weak transcription	Fetal Thymus	thymus
43	chr19:44286800-44288000	Weak transcription	Thymus	Thymus
44	chr19:44286800-44288200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr19:44287000-44287600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr19:44287000-44288000	Weak transcription	Primary T cells from cord blood	blood
47	chr19:44287000-44288000	Weak transcription	Spleen	Spleen
48	chr19:44287000-44288000	Weak transcription	NHDF-Ad	bronchial
49	chr19:44287000-44288200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr19:44287000-44288200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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