Variant report

Variant	rs1187876
Chromosome Location	chr14:55495199-55495200
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr14:55492547-55495304	SK-N-SH	brain:	n/a	n/a
2	CUX1	chr14:55495112-55495459	K562	blood:	n/a	n/a
3	FAM48A	chr14:55495076-55495200	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55368060..55369582-chr14:55493883..55496744,2	MCF-7	breast:
2	chr14:55490790..55495805-chr14:55515486..55522658,19	MCF-7	breast:
3	chr14:55491083..55496744-chr14:55514437..55523536,23	MCF-7	breast:
4	chr14:55491921..55500295-chr14:55515389..55520812,24	K562	blood:
5	chr14:55491992..55498342-chr14:55515529..55520367,21	K562	blood:

No data

Variant related genes	Relation type
WDHD1	TF binding region
ENSG00000131979	Chromatin interaction
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1002054	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10135721	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10145170	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10220693	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11622128	0.85[JPT][hapmap]
rs11625204	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs11626816	0.85[JPT][hapmap]
rs11627884	0.85[JPT][hapmap]
rs11849090	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11849878	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11849961	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs11851178	1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1187873	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs1187874	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs1187877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1187878	0.92[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1187881	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1187882	0.85[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs1187883	0.84[CEU][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1201378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1209087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1212641	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs13379159	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17128120	0.85[JPT][hapmap]
rs17128128	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17128132	1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17128145	1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs17832311	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1952085	1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2147963	0.86[JPT][hapmap]
rs2251366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2340943	0.84[CHB][hapmap]
rs2878174	0.85[JPT][hapmap]
rs3742564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4335711	0.86[JPT][hapmap]
rs56725788	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60805089	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6572999	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573000	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7141975	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7144652	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7146285	0.85[JPT][hapmap]
rs7149965	1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7150145	1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7151224	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7151431	0.88[ASN][1000 genomes]
rs7153937	0.86[JPT][hapmap]
rs7161656	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs748017	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8005399	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8008134	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8012152	0.85[JPT][hapmap]
rs8012156	0.84[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs8021929	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8022049	0.85[JPT][hapmap]
rs8022238	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8022405	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9323278	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9671895	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs9806049	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[YRI][hapmap];0.90[EUR][1000 genomes];0.93[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	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55491200-55495800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr14:55491400-55495200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr14:55491400-55495200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr14:55492000-55496200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:55492000-55496400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr14:55492200-55495200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr14:55492200-55495200	Active TSS	Brain Germinal Matrix	brain
8	chr14:55492200-55496000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:55492400-55495200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:55492400-55495200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:55492400-55495600	Active TSS	Fetal Kidney	kidney
12	chr14:55492400-55496800	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr14:55492600-55495200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:55492600-55495200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:55492600-55495200	Active TSS	Fetal Muscle Trunk	muscle
16	chr14:55492600-55495400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr14:55492600-55495400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:55492600-55495800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:55492800-55495400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:55492800-55495400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:55492800-55496400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:55492800-55496600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr14:55492800-55498400	Active TSS	GM12878-XiMat	blood
24	chr14:55493000-55495200	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr14:55493000-55495200	Active TSS	Primary T cells fromperipheralblood	blood
26	chr14:55493000-55495200	Active TSS	Fetal Muscle Leg	muscle
27	chr14:55493000-55495200	Active TSS	HepG2	liver
28	chr14:55493000-55495200	Active TSS	NHDF-Ad	bronchial
29	chr14:55493000-55495400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:55493000-55495400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr14:55493000-55495400	Active TSS	Right Ventricle	heart
32	chr14:55493000-55495600	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr14:55493000-55496000	Active TSS	K562	blood
34	chr14:55493200-55495200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:55493200-55495200	Active TSS	Muscle Satellite Cultured Cells	--
36	chr14:55493200-55495200	Active TSS	Colonic Mucosa	Colon
37	chr14:55493200-55495200	Active TSS	Fetal Intestine Small	intestine
38	chr14:55493200-55495200	Active TSS	HSMM	muscle
39	chr14:55493200-55495200	Active TSS	NH-A	brain
40	chr14:55493200-55495400	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr14:55493200-55495400	Active TSS	Fetal Stomach	stomach
42	chr14:55493200-55495400	Active TSS	NHEK	skin
43	chr14:55493200-55495600	Active TSS	Aorta	Aorta
44	chr14:55493200-55495800	Active TSS	HMEC	breast
45	chr14:55493200-55496000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:55493200-55496000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:55493200-55496000	Active TSS	A549	lung
48	chr14:55493200-55496200	Active TSS	Right Atrium	heart
49	chr14:55493400-55495200	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr14:55493400-55495200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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