Variant report

Variant	rs4983615
Chromosome Location	chr14:105887388-105887389
allele	C/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	ZBTB7A	chr14:105886656-105887955	ECC-1	luminal epithelium:	n/a	chr14:105887102-105887110 chr14:105887179-105887190
2	POLR2A	chr14:105887000-105887652	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:105887288-105887412	K562	blood:	n/a	n/a
4	ZBTB7A	chr14:105886647-105887569	ECC-1	luminal epithelium:	n/a	chr14:105887102-105887110 chr14:105887179-105887190
5	POLR2A	chr14:105887231-105887734	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:105886708-105889552	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr14:105887120-105887640	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAZ	chr14:105885135-105888080	IMR90	lung:	n/a	chr14:105886729-105886742 chr14:105887563-105887573 chr14:105886732-105886739 chr14:105886731-105886740 chr14:105886730-105886741 chr14:105886729-105886742 chr14:105886731-105886740 chr14:105886731-105886741 chr14:105887665-105887675 chr14:105886730-105886740 chr14:105886730-105886741 chr14:105886729-105886742 chr14:105886729-105886744
9	POLR2A	chr14:105887162-105887405	MCF-7	breast:	n/a	n/a
10	POLR2A	chr14:105886726-105887640	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr14:105887206-105887632	A549	lung:	n/a	n/a
12	POLR2A	chr14:105886654-105887619	GM12892	blood:	n/a	n/a
13	POLR2A	chr14:105886999-105887448	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:105887218-105888806	K562	blood:	n/a	n/a
15	MXI1	chr14:105886614-105890279	SK-N-SH	brain:	n/a	n/a
16	ZBTB7A	chr14:105887349-105887631	K562	blood:	n/a	n/a
17	POLR2A	chr14:105887123-105887717	GM12892	blood:	n/a	n/a
18	POLR2A	chr14:105886664-105887460	GM12878	blood:	n/a	n/a
19	POLR2A	chr14:105887226-105887514	HepG2	liver:	n/a	n/a
20	ELF1	chr14:105887023-105887832	GM12878	blood:	n/a	n/a
21	POLR2A	chr14:105887177-105887637	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr14:105886885-105887413	GM12892	blood:	n/a	n/a
23	POLR2A	chr14:105887262-105887518	Hela-S3	cervix:	n/a	n/a
24	SIN3A	chr14:105887371-105887393	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105884344..105887645-chr14:105955564..105958862,3	K562	blood:
2	chr14:105861905..105865753-chr14:105884230..105887422,5	K562	blood:
3	chr14:105835990..105838531-chr14:105887072..105888868,2	K562	blood:
4	chr14:105885358..105889451-chr14:105901895..105905959,5	MCF-7	breast:
5	chr14:105863063..105864847-chr14:105886913..105889442,2	K562	blood:
6	chr14:105887212..105890190-chr14:105946793..105948688,2	K562	blood:
7	chr14:105884242..105887668-chr14:105902479..105906192,4	MCF-7	breast:
8	chr14:105884288..105888783-chr14:105938542..105943341,7	MCF-7	breast:
9	chr14:105887282..105889637-chr14:105895992..105898524,2	MCF-7	breast:
10	chr14:105884903..105887954-chr14:105938531..105942020,5	MCF-7	breast:
11	chr14:105886174..105888891-chr14:105953847..105956104,2	MCF-7	breast:
12	chr14:105885814..105887467-chr17:62501154..62503346,2	MCF-7	breast:
13	chr14:105878253..105887592-chr14:105952988..105961277,12	MCF-7	breast:
14	chr14:105886088..105888126-chr14:105956258..105958183,2	K562	blood:
15	chr14:105887107..105890164-chr14:105897774..105900596,4	MCF-7	breast:
16	chr14:105885522..105887856-chr14:105940079..105941769,2	K562	blood:

Variant related genes	Relation type
ENSG00000251602	TF binding region
ENSG00000108654	Chromatin interaction
ENSG00000258890	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000257341	Chromatin interaction
ENSG00000226174	Chromatin interaction
ENSG00000213145	Chromatin interaction
ENSG00000185347	Chromatin interaction
ENSG00000256498	Chromatin interaction
ENSG00000182809	Chromatin interaction

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

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

rs_ID	r²[population]
rs28529463	0.84[AMR][1000 genomes]
rs28541433	0.84[AMR][1000 genomes]
rs4983407	0.85[YRI][hapmap]
rs4983624	0.83[YRI][hapmap]
rs73361094	0.84[AMR][1000 genomes]
rs7492842	0.84[YRI][hapmap];0.92[AMR][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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105885200-105888000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr14:105885200-105888200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:105885400-105887400	Active TSS	A549	lung
4	chr14:105885400-105887600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr14:105885400-105887600	Active TSS	Fetal Kidney	kidney
6	chr14:105885400-105887800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:105885400-105887800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr14:105885600-105887600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:105885600-105887600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr14:105885600-105887800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr14:105885600-105888000	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr14:105885600-105888200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr14:105885800-105887400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr14:105885800-105887400	Active TSS	Right Atrium	heart
15	chr14:105885800-105887400	Active TSS	HSMM	muscle
16	chr14:105885800-105887400	Active TSS	NHDF-Ad	bronchial
17	chr14:105885800-105887800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:105886000-105887400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:105886000-105887400	Active TSS	NHLF	lung
20	chr14:105886600-105889400	Enhancers	Fetal Brain Male	brain
21	chr14:105886800-105887400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr14:105886800-105887400	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr14:105886800-105887400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:105886800-105887400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:105886800-105887400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:105886800-105887400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:105886800-105887400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr14:105886800-105887400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:105886800-105887400	Flanking Active TSS	Liver	Liver
30	chr14:105886800-105887400	Flanking Active TSS	Placenta	Placenta
31	chr14:105886800-105887400	Flanking Active TSS	Spleen	Spleen
32	chr14:105886800-105887600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr14:105886800-105887600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr14:105886800-105887600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr14:105886800-105887600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr14:105886800-105887600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:105886800-105887800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr14:105886800-105888000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr14:105886800-105888000	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr14:105886800-105888000	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr14:105886800-105888000	Flanking Active TSS	Fetal Muscle Trunk	muscle
42	chr14:105886800-105888000	Flanking Active TSS	Fetal Thymus	thymus
43	chr14:105886800-105888000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr14:105886800-105888200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr14:105886800-105888200	Flanking Active TSS	Thymus	Thymus
46	chr14:105886800-105888200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr14:105886800-105888400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:105886800-105888400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr14:105886800-105888400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:105886800-105888400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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