Variant report

Variant	rs7492842
Chromosome Location	chr14:105889427-105889428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:105889219-105889528	HepG2	liver:	n/a	n/a
2	GATA3	chr14:105888740-105889577	SH-SY5Y	brain:	n/a	n/a
3	GATA3	chr14:105888715-105889677	MCF-7	breast:	n/a	n/a
4	NR2F2	chr14:105888760-105889565	MCF-7	breast:	n/a	n/a
5	EP300	chr14:105889169-105889608	SK-N-SH_RA	brain:	n/a	chr14:105889496-105889510
6	POLR2A	chr14:105886708-105889552	SK-N-MC	brain:	n/a	n/a
7	EP300	chr14:105888557-105889984	SK-N-SH	brain:	n/a	chr14:105889496-105889510
8	GATA2	chr14:105888569-105889619	SH-SY5Y	brain:	n/a	chr14:105888993-105889007
9	POLR2A	chr14:105889113-105889443	K562	blood:	n/a	n/a
10	TCF7L2	chr14:105889135-105889595	MCF-7	breast:	n/a	n/a
11	POLR2A	chr14:105889296-105889464	Hela-S3	cervix:	n/a	n/a
12	EP300	chr14:105889209-105889530	SK-N-SH_RA	brain:	n/a	chr14:105889496-105889510
13	MXI1	chr14:105886614-105890279	SK-N-SH	brain:	n/a	n/a
14	REST	chr14:105889130-105889471	SK-N-SH	brain:	n/a	n/a
15	YY1	chr14:105889266-105889506	SK-N-SH_RA	brain:	n/a	n/a
16	NR2F2	chr14:105888933-105889610	MCF-7	breast:	n/a	n/a
17	GATA3	chr14:105888819-105889536	SK-N-SH	brain:	n/a	n/a
18	SRF	chr14:105888764-105889576	MCF-7	breast:	n/a	n/a
19	GATA3	chr14:105888974-105889440	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:105863063..105865456-chr14:105887763..105889442,3	K562	blood:
2	chr14:105885358..105889451-chr14:105901895..105905959,5	MCF-7	breast:
3	chr14:105863063..105864847-chr14:105886913..105889442,2	K562	blood:
4	chr14:105779766..105781662-chr14:105888311..105890872,2	MCF-7	breast:
5	chr14:105886107..105887818-chr14:105887974..105889607,2	MCF-7	breast:
6	chr14:105887212..105890190-chr14:105946793..105948688,2	K562	blood:
7	chr14:105888342..105894950-chr14:105900669..105908153,8	MCF-7	breast:
8	chr14:105887282..105889637-chr14:105895992..105898524,2	MCF-7	breast:
9	chr14:105887779..105891496-chr14:105947005..105949975,3	MCF-7	breast:
10	chr14:105887761..105889537-chr14:105933302..105935322,2	MCF-7	breast:
11	chr14:105887107..105890164-chr14:105897774..105900596,4	MCF-7	breast:
12	chr14:105888512..105890241-chr14:105919269..105920969,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251602	TF binding region
ENSG00000182979	Chromatin interaction
ENSG00000226174	Chromatin interaction
ENSG00000179364	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11160844	0.83[AFR][1000 genomes]
rs11621365	0.83[AMR][1000 genomes]
rs12432166	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12435295	0.83[AMR][1000 genomes]
rs12435378	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28529463	0.91[AMR][1000 genomes]
rs28541433	0.91[AMR][1000 genomes]
rs3936032	0.84[YRI][hapmap]
rs4074001	0.83[YRI][hapmap]
rs4983407	0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4983414	0.80[YRI][hapmap]
rs4983613	0.83[AMR][1000 genomes]
rs4983614	0.83[AMR][1000 genomes]
rs4983615	0.84[YRI][hapmap];0.92[AMR][1000 genomes]
rs4983624	0.88[YRI][hapmap]
rs6576087	0.83[AMR][1000 genomes]
rs6576088	0.83[AMR][1000 genomes]
rs6576106	0.91[YRI][hapmap]
rs7143586	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7149988	0.83[AMR][1000 genomes]
rs73361094	0.91[AMR][1000 genomes]
rs7493450	0.90[YRI][hapmap]
rs8005552	0.86[YRI][hapmap]
rs8018272	0.87[AFR][1000 genomes]
rs9743822	0.96[YRI][hapmap];0.93[AFR][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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105887200-105897800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:105887400-105892400	Weak transcription	Aorta	Aorta
3	chr14:105887600-105889600	Enhancers	Left Ventricle	heart
4	chr14:105887600-105919000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:105887800-105889800	Enhancers	Ovary	ovary
6	chr14:105887800-105890200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:105887800-105896600	Weak transcription	HSMMtube	muscle
8	chr14:105888000-105889600	Strong transcription	Fetal Intestine Small	intestine
9	chr14:105888000-105889800	Genic enhancers	Fetal Muscle Leg	muscle
10	chr14:105888000-105896800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:105888200-105891000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:105888200-105891200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:105888200-105891400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:105888200-105892600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:105888200-105892800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:105888200-105896400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:105888200-105896400	Weak transcription	NHDF-Ad	bronchial
18	chr14:105888200-105900400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr14:105888400-105890200	Weak transcription	NHEK	skin
20	chr14:105888400-105890400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:105888400-105891200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:105888400-105891200	Weak transcription	NHLF	lung
23	chr14:105888400-105891800	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:105888400-105892600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:105888400-105893000	Weak transcription	HSMM	muscle
26	chr14:105888400-105893200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:105888400-105893200	Weak transcription	Osteobl	bone
28	chr14:105888400-105896800	Weak transcription	NH-A	brain
29	chr14:105888400-105897200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:105888400-105899200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:105888400-105904600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr14:105888600-105889600	Enhancers	Primary hematopoietic stem cells	blood
33	chr14:105888600-105889600	Genic enhancers	Dnd41	blood
34	chr14:105888600-105890400	Enhancers	Right Ventricle	heart
35	chr14:105888600-105891000	Weak transcription	Lung	lung
36	chr14:105888600-105892000	Weak transcription	Small Intestine	intestine
37	chr14:105888600-105914800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr14:105888600-105918400	Weak transcription	Colon Smooth Muscle	Colon
39	chr14:105888800-105889600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr14:105888800-105891200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr14:105888800-105891600	Weak transcription	Colonic Mucosa	Colon
42	chr14:105888800-105893600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:105888800-105896800	Weak transcription	Primary B cells from cord blood	blood
44	chr14:105888800-105908600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr14:105889000-105889600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr14:105889000-105891200	Weak transcription	Fetal Brain Female	brain
47	chr14:105889000-105891200	Weak transcription	Fetal Intestine Large	intestine
48	chr14:105889000-105891400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:105889000-105892800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:105889200-105889600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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