Variant report

Variant	rs11625861
Chromosome Location	chr14:81735001-81735002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:81734649..81736171-chr14:81929544..81931118,2	MCF-7	breast:
2	chr14:81732900..81735880-chr14:81918109..81921076,5	MCF-7	breast:
3	chr14:81733496..81737456-chr14:81918664..81922273,4	MCF-7	breast:
4	chr14:81684348..81690583-chr14:81729061..81738251,32	MCF-7	breast:
5	chr14:81683224..81690294-chr14:81730621..81737433,21	MCF-7	breast:
6	chr14:81686865..81688853-chr14:81734736..81736756,2	K562	blood:
7	chr14:81684594..81689943-chr14:81730721..81738333,8	K562	blood:
8	chr14:81733159..81735915-chr14:81931086..81932603,2	K562	blood:
9	chr14:81733049..81735838-chr14:81736167..81738052,2	MCF-7	breast:
10	chr14:81719518..81722167-chr14:81734780..81736753,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10133562	0.84[CHD][hapmap]
rs11159493	0.82[CHB][hapmap]
rs11159494	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs11621116	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs11622105	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1864167	0.83[MEX][hapmap]
rs1885601	0.81[CEU][hapmap];0.82[CHB][hapmap];0.83[MEX][hapmap]
rs1951614	0.85[CEU][hapmap];0.83[MEX][hapmap]
rs1991516	0.85[CEU][hapmap]
rs2241621	0.84[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.96[MEX][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2241622	0.83[CHB][hapmap];0.86[CHD][hapmap];0.81[ASN][1000 genomes]
rs2288499	0.88[CEU][hapmap]
rs2371570	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2371571	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3815953	0.85[CEU][hapmap];0.83[MEX][hapmap]
rs55643303	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55742437	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55822231	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56714548	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56835982	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61978870	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574631	0.85[CEU][hapmap];0.83[MEX][hapmap]
rs7141288	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7148483	0.81[CHB][hapmap]
rs7160342	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7160569	1.00[CEU][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72695758	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs759939	0.85[CEU][hapmap]
rs8007595	0.80[ASN][1000 genomes]
rs8008870	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8015423	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8019108	0.96[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9323698	0.91[CHB][hapmap]
rs9646167	0.81[CEU][hapmap]
rs9806027	0.91[CEU][hapmap]
rs9944085	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11625861	STON2	cis	parietal	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81714200-81738600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:81719800-81735600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr14:81721200-81735600	Weak transcription	Brain Anterior Caudate	brain
4	chr14:81721200-81742400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr14:81721400-81739800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:81721600-81739800	Weak transcription	Ovary	ovary
7	chr14:81722600-81741800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:81724400-81735400	Weak transcription	Fetal Intestine Large	intestine
9	chr14:81724600-81736400	Weak transcription	Fetal Intestine Small	intestine
10	chr14:81724600-81741800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:81724600-81746000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:81724800-81736400	Weak transcription	Spleen	Spleen
13	chr14:81725000-81739800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:81725000-81740000	Weak transcription	Esophagus	oesophagus
15	chr14:81725000-81743600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr14:81726800-81736600	Weak transcription	Brain Substantia Nigra	brain
17	chr14:81727600-81736800	Weak transcription	Psoas Muscle	Psoas
18	chr14:81727800-81746200	Weak transcription	NHDF-Ad	bronchial
19	chr14:81728000-81736600	Weak transcription	Fetal Brain Male	brain
20	chr14:81729000-81735800	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:81729400-81752600	Weak transcription	Stomach Mucosa	stomach
22	chr14:81730600-81743000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:81730600-81744000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:81730800-81735600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:81730800-81740000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr14:81730800-81743600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:81731600-81739200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:81732000-81735800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:81732400-81743600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr14:81732600-81735600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr14:81733200-81753000	Weak transcription	Hela-S3	cervix
32	chr14:81733800-81735200	Enhancers	Primary T cells from cord blood	blood
33	chr14:81733800-81735800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:81734000-81735400	Enhancers	Thymus	Thymus
35	chr14:81734000-81735600	Enhancers	Primary hematopoietic stem cells	blood
36	chr14:81734000-81735800	Genic enhancers	K562	blood
37	chr14:81734000-81736000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr14:81734000-81736000	Enhancers	Fetal Thymus	thymus
39	chr14:81734000-81736400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:81734000-81736400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr14:81734200-81735200	Genic enhancers	HMEC	breast
42	chr14:81734200-81735200	Genic enhancers	NHEK	skin
43	chr14:81734200-81735400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:81734200-81735800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:81734400-81735600	Weak transcription	Fetal Kidney	kidney
46	chr14:81734400-81736200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:81734400-81736200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:81734600-81736000	Weak transcription	HSMM	muscle
49	chr14:81734600-81737200	Weak transcription	Colonic Mucosa	Colon
50	chr14:81734600-81741400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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