Variant report

Variant	rs74084865
Chromosome Location	chr13:52028896-52028897
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr13:52027644-52028904	GM12878	blood:	n/a	n/a
2	POLR2A	chr13:52023042-52028956	GM12878	blood:	n/a	n/a
3	POLR2A	chr13:52026571-52028973	PBDE	blood:	n/a	n/a
4	GATA3	chr13:52028740-52029436	SH-SY5Y	brain:	n/a	chr13:52029022-52029029 chr13:52029020-52029030 chr13:52029022-52029029 chr13:52029017-52029033 chr13:52029015-52029036 chr13:52029022-52029029
5	PML	chr13:52025293-52028928	GM12878	blood:	n/a	n/a
6	POLR2A	chr13:52028866-52029119	HepG2	liver:	n/a	n/a
7	POLR2A	chr13:52025613-52029000	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr13:52022300-52029025	GM12878	blood:	n/a	n/a
9	POLR2A	chr13:52023377-52029022	IMR90	lung:	n/a	n/a
10	POLR2A	chr13:52025229-52029224	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr13:52025200-52029013	K562	blood:	n/a	n/a
12	RELA	chr13:52026584-52028942	GM10847	blood:	n/a	n/a
13	POLR2A	chr13:52023273-52029011	GM12891	blood:	n/a	n/a
14	BHLHE40	chr13:52026687-52028930	GM12878	blood:	n/a	n/a
15	MXI1	chr13:52026626-52028979	GM12878	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:52027147..52029291-chr17:56736300..56737944,2	MCF-7	breast:
2	chr13:52023047..52029598-chr13:52376243..52380914,21	K562	blood:
3	chr13:52022475..52029228-chr13:52156654..52162250,29	K562	blood:
4	chr13:52025794..52034237-chr13:52040132..52048046,20	K562	blood:
5	chr13:52025577..52029967-chr13:52343918..52348772,7	MCF-7	breast:
6	chr13:52024267..52031024-chr13:52038927..52044194,9	MCF-7	breast:
7	chr13:52024232..52029374-chr13:52366504..52381003,28	MCF-7	breast:
8	chr13:52022285..52029211-chr13:52148229..52167071,88	MCF-7	breast:
9	chr13:51980509..51983180-chr13:52028617..52030168,2	K562	blood:
10	chr13:52024284..52029908-chr13:52069886..52073128,6	K562	blood:
11	chr13:52025709..52029684-chr13:52361886..52365561,3	MCF-7	breast:
12	chr13:52022042..52032158-chr13:52153162..52160287,46	K562	blood:
13	chr13:52024743..52028940-chr13:52112359..52118516,11	MCF-7	breast:
14	chr13:52015950..52029988-chr13:52150583..52166755,85	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDFY2-2	chr13:52028139-52028966	ENSG00000236778.3
2	lnc-WDFY2-2	chr13:52027277-52030240	NONHSAT033912

No data

Variant related genes	Relation type
INTS6	TF binding region
ENSG00000231856	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000236778	Chromatin interaction
ENSG00000102796	Chromatin interaction
ENSG00000243900	Chromatin interaction
ENSG00000139668	Chromatin interaction
ENSG00000206920	Chromatin interaction
ENSG00000229906	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12323252	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55678657	1.00[AMR][1000 genomes]
rs74084824	1.00[AMR][1000 genomes]
rs74084851	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74084870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9285178	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9591404	1.00[AMR][1000 genomes]
rs9591406	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9596511	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9596512	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9596514	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9596515	1.00[AMR][1000 genomes]
rs9596525	1.00[AMR][1000 genomes]

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52025000-52029000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:52025000-52029000	Active TSS	GM12878-XiMat	blood
3	chr13:52025400-52029000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr13:52025600-52029000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:52027800-52029400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:52028000-52029000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:52028000-52029000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:52028000-52029000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:52028000-52029000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:52028000-52029000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr13:52028000-52029200	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr13:52028000-52029200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr13:52028000-52029200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr13:52028000-52029400	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr13:52028000-52029600	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr13:52028000-52029800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:52028200-52029000	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr13:52028200-52029000	Flanking Active TSS	Fetal Kidney	kidney
19	chr13:52028200-52029000	Flanking Active TSS	Fetal Lung	lung
20	chr13:52028200-52029000	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr13:52028200-52029000	Flanking Active TSS	NHEK	skin
22	chr13:52028200-52029200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr13:52028200-52029400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr13:52028200-52029400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr13:52028400-52029000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr13:52028400-52029000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:52028400-52029000	Flanking Active TSS	Liver	Liver
28	chr13:52028400-52029000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr13:52028400-52029000	Active TSS	NHLF	lung
30	chr13:52028400-52029600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:52028400-52029600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr13:52028400-52029600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr13:52028400-52029600	Weak transcription	Esophagus	oesophagus
34	chr13:52028400-52029600	Weak transcription	Gastric	stomach
35	chr13:52028400-52029600	Weak transcription	Ovary	ovary
36	chr13:52028400-52029600	Weak transcription	Pancreas	Pancrea
37	chr13:52028400-52029600	Weak transcription	Spleen	Spleen
38	chr13:52028400-52029800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:52028400-52029800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr13:52028400-52030200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr13:52028600-52029000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:52028600-52029000	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr13:52028600-52029000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr13:52028600-52029000	Enhancers	Brain Germinal Matrix	brain
45	chr13:52028600-52029000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr13:52028600-52029000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr13:52028600-52029000	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr13:52028600-52029000	Active TSS	Thymus	Thymus
49	chr13:52028600-52029000	Flanking Active TSS	A549	lung
50	chr13:52028600-52029000	Active TSS	HMEC	breast

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