Variant report

Variant	rs1885601
Chromosome Location	chr14:81641210-81641211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:81641070-81641231	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:81640944-81641231	K562	blood:	n/a	n/a
3	POLR2A	chr14:81640865-81641299	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr14:81639545-81642120	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:81635321..81638363-chr14:81638516..81643348,6	MCF-7	breast:
2	chr14:81639213..81642990-chr14:81685332..81688548,6	K562	blood:
3	chr14:81632445..81635289-chr14:81638847..81642115,4	K562	blood:
4	chr14:81639700..81642191-chr14:81644635..81646691,2	K562	blood:
5	chr14:81635464..81641822-chr14:81682247..81689009,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258999	TF binding region
ENSG00000165417	Chromatin interaction
ENSG00000258999	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10149681	0.87[CHB][hapmap];0.87[CHD][hapmap]
rs1035948	0.82[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11159493	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11159494	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625861	0.81[CEU][hapmap];0.82[CHB][hapmap];0.83[MEX][hapmap]
rs11850714	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147118	0.87[CHD][hapmap]
rs12372876	0.84[MEX][hapmap]
rs12590764	0.82[EUR][1000 genomes]
rs1864167	1.00[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951614	0.89[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1951615	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1957546	0.83[CHB][hapmap];0.85[CHD][hapmap];0.80[ASN][1000 genomes]
rs1957549	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1991516	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2099108	0.80[ASN][1000 genomes]
rs2241621	0.81[CEU][hapmap];0.87[MEX][hapmap]
rs2288497	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2288499	0.89[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3815953	0.89[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4363794	0.86[EUR][1000 genomes]
rs61980899	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61980900	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6574631	0.89[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7142641	0.87[CHD][hapmap]
rs7148100	0.87[CHD][hapmap]
rs7149672	0.87[CHD][hapmap]
rs7160569	0.81[CEU][hapmap]
rs759939	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8004096	0.83[EUR][1000 genomes]
rs8007841	0.87[CHB][hapmap];0.86[CHD][hapmap];0.82[ASN][1000 genomes]
rs8009519	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8011097	0.83[EUR][1000 genomes]
rs8014406	0.87[CHD][hapmap]
rs8015423	0.81[CEU][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.92[MEX][hapmap]
rs8021125	0.82[EUR][1000 genomes]
rs8021385	0.82[EUR][1000 genomes]
rs9646167	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9806020	0.83[CHB][hapmap];0.86[CHD][hapmap]
rs9806027	0.96[CEU][hapmap];0.90[CHB][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9944085	0.82[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][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	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
rs1885601	STON2	cis	parietal	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81637000-81646400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:81637000-81647000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:81637000-81652200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:81637000-81659000	Weak transcription	Esophagus	oesophagus
5	chr14:81637000-81683800	Weak transcription	Small Intestine	intestine
6	chr14:81637200-81643600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:81637200-81643800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:81637200-81644800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:81637200-81645000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:81637200-81645600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:81637200-81646200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:81637200-81646800	Weak transcription	Fetal Intestine Small	intestine
13	chr14:81637200-81648400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:81637200-81650000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr14:81637200-81650200	Weak transcription	Fetal Lung	lung
16	chr14:81637200-81651400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:81637200-81651800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:81637200-81652400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:81637200-81652600	Weak transcription	NHEK	skin
20	chr14:81637200-81652800	Weak transcription	Fetal Stomach	stomach
21	chr14:81637200-81653000	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:81637200-81658200	Weak transcription	HSMMtube	muscle
23	chr14:81637200-81658800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr14:81637200-81658800	Weak transcription	Colonic Mucosa	Colon
25	chr14:81637200-81658800	Weak transcription	Left Ventricle	heart
26	chr14:81637400-81642000	Weak transcription	Primary B cells from cord blood	blood
27	chr14:81637400-81642400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:81637400-81642800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr14:81637400-81643600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr14:81637400-81643600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr14:81637400-81644200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr14:81637400-81644600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:81637400-81645600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:81637400-81646000	Weak transcription	K562	blood
35	chr14:81637400-81646200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr14:81637400-81646200	Weak transcription	Fetal Thymus	thymus
37	chr14:81637400-81646400	Weak transcription	Fetal Intestine Large	intestine
38	chr14:81637400-81646400	Weak transcription	Thymus	Thymus
39	chr14:81637400-81646600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr14:81637400-81646800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:81637400-81648200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr14:81637400-81649800	Weak transcription	HepG2	liver
43	chr14:81637400-81650000	Weak transcription	Adipose Nuclei	Adipose
44	chr14:81637400-81650000	Weak transcription	Fetal Kidney	kidney
45	chr14:81637400-81651600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr14:81637400-81651800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:81637400-81652200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:81637400-81653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:81637400-81653000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr14:81637400-81656800	Weak transcription	HMEC	breast

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