Variant report

Variant	rs11847128
Chromosome Location	chr14:105844013-105844014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:105843812-105844079	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:105829901..105832392-chr14:105842010..105844115,2	K562	blood:
2	chr14:105842043..105844684-chr14:105956464..105958658,2	K562	blood:
3	chr14:105843224..105844739-chr14:105851736..105854414,2	K562	blood:
4	chr14:105843180..105844852-chr14:105855342..105858194,2	K562	blood:
5	chr14:105837350..105839283-chr14:105843263..105845768,2	K562	blood:
6	chr14:105842793..105847780-chr14:105862863..105867296,6	K562	blood:
7	chr14:105832344..105835247-chr14:105843145..105846182,3	MCF-7	breast:
8	chr14:105842275..105845976-chr14:105853186..105855107,4	MCF-7	breast:
9	chr14:105843238..105845792-chr14:105847599..105850419,2	MCF-7	breast:
10	chr14:105843352..105844897-chr14:105851153..105852761,2	MCF-7	breast:
11	chr14:105842218..105845435-chr14:105851736..105854414,4	K562	blood:
12	chr14:105836081..105839933-chr14:105841542..105845768,4	K562	blood:

No data

Variant related genes	Relation type
PACS2	TF binding region
ENSG00000226174	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000185347	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10132353	1.00[JPT][hapmap]
rs10132438	1.00[JPT][hapmap]
rs10141048	1.00[JPT][hapmap]
rs10141334	1.00[JPT][hapmap]
rs10142682	1.00[JPT][hapmap]
rs10147378	1.00[JPT][hapmap]
rs10147674	1.00[JPT][hapmap]
rs10148379	1.00[JPT][hapmap]
rs10148455	1.00[JPT][hapmap]
rs11846567	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11849421	1.00[JPT][hapmap]
rs12101178	1.00[JPT][hapmap]
rs28406946	1.00[ASN][1000 genomes]
rs28444495	1.00[ASN][1000 genomes]
rs28450137	0.83[AFR][1000 genomes]
rs28450331	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28461287	1.00[ASN][1000 genomes]
rs28488281	1.00[ASN][1000 genomes]
rs28507499	1.00[ASN][1000 genomes]
rs28529001	1.00[ASN][1000 genomes]
rs28548340	1.00[ASN][1000 genomes]
rs28588179	1.00[ASN][1000 genomes]
rs28733380	1.00[ASN][1000 genomes]
rs4073351	1.00[ASN][1000 genomes]
rs4074004	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4076933	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4983411	1.00[JPT][hapmap]
rs57091581	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57244820	1.00[ASN][1000 genomes]
rs58214606	1.00[ASN][1000 genomes]
rs60505080	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61326617	1.00[ASN][1000 genomes]
rs7144362	1.00[JPT][hapmap]
rs7161158	1.00[JPT][hapmap]
rs73361060	1.00[ASN][1000 genomes]
rs8004328	1.00[JPT][hapmap]
rs8008801	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8010649	1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs8010888	1.00[JPT][hapmap]
rs8016693	1.00[JPT][hapmap]
rs9671295	1.00[JPT][hapmap]
rs9671890	1.00[JPT][hapmap]

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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105797000-105849200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr14:105808600-105848600	Weak transcription	HSMMtube	muscle
3	chr14:105814200-105848600	Weak transcription	Left Ventricle	heart
4	chr14:105818600-105846000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:105818800-105849200	Weak transcription	A549	lung
6	chr14:105822000-105848800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:105822800-105847800	Weak transcription	Liver	Liver
8	chr14:105823600-105863400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:105823800-105846200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:105823800-105849600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:105825600-105848200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:105827800-105847600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:105831000-105863800	Weak transcription	Fetal Kidney	kidney
14	chr14:105831400-105844400	Weak transcription	Stomach Mucosa	stomach
15	chr14:105831400-105848800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr14:105831400-105864000	Weak transcription	Osteobl	bone
17	chr14:105831600-105850600	Weak transcription	Fetal Heart	heart
18	chr14:105831600-105855200	Strong transcription	Fetal Stomach	stomach
19	chr14:105831600-105863200	Weak transcription	NHDF-Ad	bronchial
20	chr14:105832200-105849600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr14:105834600-105848400	Weak transcription	Colon Smooth Muscle	Colon
22	chr14:105834800-105846200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:105835200-105848600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:105835200-105848600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:105835200-105849200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:105835200-105849400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:105835400-105846000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:105835400-105848800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:105835600-105845400	Weak transcription	Brain Substantia Nigra	brain
30	chr14:105836000-105850000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:105836400-105845000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:105836400-105845200	Weak transcription	Right Ventricle	heart
33	chr14:105836400-105846000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:105836400-105846000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:105836400-105846000	Weak transcription	Thymus	Thymus
36	chr14:105836400-105846200	Weak transcription	Colonic Mucosa	Colon
37	chr14:105836400-105846200	Weak transcription	Pancreas	Pancrea
38	chr14:105836400-105846400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr14:105836400-105847800	Weak transcription	Aorta	Aorta
40	chr14:105836400-105848200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr14:105836400-105848400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr14:105836400-105849000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr14:105836600-105849000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr14:105837200-105846200	Weak transcription	Ovary	ovary
45	chr14:105837800-105844200	Weak transcription	Brain Anterior Caudate	brain
46	chr14:105837800-105845000	Weak transcription	Brain Angular Gyrus	brain
47	chr14:105837800-105846000	Weak transcription	Esophagus	oesophagus
48	chr14:105837800-105848200	Weak transcription	NHLF	lung
49	chr14:105837800-105855200	Weak transcription	HSMM	muscle
50	chr14:105838000-105845600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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