Variant report

Variant	rs1061638
Chromosome Location	chr14:77928525-77928526
allele	A/G
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:6)
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	POLR2A	chr14:77928361-77929887	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:77928320-77929195	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:77928355-77928627	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:77922850..77925506-chr14:77927061..77929648,3	K562	blood:
2	chr14:77925306..77928562-chr14:78081993..78085089,3	MCF-7	breast:
3	chr14:77924775..77928699-chr14:77931957..77935059,4	K562	blood:
4	chr14:77599632..77602210-chr14:77926628..77928596,2	MCF-7	breast:
5	chr14:77787549..77790264-chr14:77928506..77931057,2	MCF-7	breast:
6	chr14:77926565..77928660-chr9:102583665..102585481,2	MCF-7	breast:

No data

Variant related genes	Relation type
VIPAS39	TF binding region
AHSA1	TF binding region
ENSG00000212371	TF binding region
ENSG00000212371	Chromatin interaction
ENSG00000100596	Chromatin interaction
ENSG00000119508	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000100577	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10133896	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs10431633	0.90[ASN][1000 genomes]
rs10431634	0.90[ASN][1000 genomes]
rs1061629	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11159259	0.83[ASN][1000 genomes]
rs11159261	0.85[CHB][hapmap]
rs11159262	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11159263	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11159264	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11622359	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11622832	1.00[ASN][1000 genomes]
rs11623826	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11624068	1.00[ASN][1000 genomes]
rs11624200	0.98[ASN][1000 genomes]
rs11624990	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11625129	0.80[ASN][1000 genomes]
rs11625365	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11627385	1.00[ASN][1000 genomes]
rs11844594	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12432247	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12433766	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12435136	0.85[CHB][hapmap]
rs12436593	0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12590773	1.00[ASN][1000 genomes]
rs12878121	1.00[ASN][1000 genomes]
rs12885869	0.88[ASN][1000 genomes]
rs147316	0.85[ASN][1000 genomes]
rs176773	0.85[ASN][1000 genomes]
rs176781	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17824034	0.85[CHB][hapmap]
rs17824316	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2091916	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2193595	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2242619	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2364156	0.90[ASN][1000 genomes]
rs4223	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4369582	0.88[ASN][1000 genomes]
rs4575469	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4899652	0.85[CHB][hapmap]
rs4899655	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4903576	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4903579	0.85[CHB][hapmap]
rs4903580	0.85[CHB][hapmap]
rs4903583	1.00[ASN][1000 genomes]
rs4903584	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4903586	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6574372	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7142380	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7146595	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7146784	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7250	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs760257	1.00[ASN][1000 genomes]
rs8005759	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs8006688	0.88[ASN][1000 genomes]
rs8016070	0.90[ASN][1000 genomes]
rs8016576	0.88[ASN][1000 genomes]
rs8018513	0.98[ASN][1000 genomes]
rs8018711	0.90[ASN][1000 genomes]
rs963283	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041985	chr14:77877421-77936969	Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1061638	AHSA1	cis	parietal	SCAN
rs1061638	C14orf148	cis	brain	BrainEAC
rs1061638	C14orf174	cis	parietal	SCAN
rs1061638	C14orf148	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77925600-77936600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:77925800-77936400	Strong transcription	Fetal Muscle Trunk	muscle
3	chr14:77926000-77929600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:77926000-77936200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:77926000-77936200	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:77926000-77936400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:77926000-77936800	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr14:77926000-77936800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr14:77926000-77939000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:77926200-77932000	Strong transcription	Colonic Mucosa	Colon
11	chr14:77926200-77932200	Strong transcription	Rectal Smooth Muscle	rectum
12	chr14:77926200-77932800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:77926200-77933400	Strong transcription	Fetal Brain Male	brain
14	chr14:77926200-77933800	Strong transcription	Gastric	stomach
15	chr14:77926200-77935400	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr14:77926200-77935600	Strong transcription	HSMM	muscle
17	chr14:77926200-77935800	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr14:77926200-77936000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:77926200-77936000	Strong transcription	NHDF-Ad	bronchial
20	chr14:77926200-77936200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:77926200-77936200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:77926200-77936200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr14:77926200-77936200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:77926200-77936200	Strong transcription	Fetal Intestine Large	intestine
25	chr14:77926200-77936200	Strong transcription	Placenta	Placenta
26	chr14:77926200-77936200	Strong transcription	Fetal Thymus	thymus
27	chr14:77926200-77936200	Strong transcription	Lung	lung
28	chr14:77926200-77936200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr14:77926200-77936400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:77926200-77936400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:77926200-77936400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr14:77926200-77936400	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr14:77926200-77936600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:77926200-77936800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr14:77926200-77936800	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr14:77926200-77937000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:77926200-77937000	Strong transcription	Fetal Stomach	stomach
38	chr14:77926200-77937000	Strong transcription	Ovary	ovary
39	chr14:77926400-77932200	Weak transcription	Psoas Muscle	Psoas
40	chr14:77926400-77932600	Strong transcription	Primary hematopoietic stem cells	blood
41	chr14:77926400-77933400	Strong transcription	Fetal Lung	lung
42	chr14:77926400-77933600	Strong transcription	NHEK	skin
43	chr14:77926400-77935800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr14:77926400-77935800	Strong transcription	Fetal Intestine Small	intestine
45	chr14:77926400-77936000	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr14:77926400-77936000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr14:77926400-77936000	Strong transcription	HSMMtube	muscle
48	chr14:77926400-77936200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:77926400-77936200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:77926400-77936200	Strong transcription	Duodenum Mucosa	Duodenum

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