Variant report

Variant	rs1885603
Chromosome Location	chr14:81768210-81768211
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81687764..81689461-chr14:81767377..81769848,3	K562	blood:
2	chr14:81683859..81687307-chr14:81767803..81771525,4	MCF-7	breast:
3	chr14:81727868..81730785-chr14:81767384..81769125,2	MCF-7	breast:
4	chr14:81764831..81767906-chr14:81768128..81771132,3	K562	blood:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17631957	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1885605	0.86[CHB][hapmap]
rs2081988	0.91[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34221546	0.83[ASN][1000 genomes]
rs35922586	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903978	0.91[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5025110	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55923946	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7148483	0.86[CHB][hapmap]
rs8010339	0.80[ASN][1000 genomes]
rs9323698	0.90[CHD][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1885603	STON2	cis	parietal	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81741800-81768400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:81743800-81778400	Weak transcription	Fetal Kidney	kidney
3	chr14:81745000-81769600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:81749800-81771400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr14:81754400-81777800	Weak transcription	Ovary	ovary
6	chr14:81755000-81769000	Weak transcription	Pancreas	Pancrea
7	chr14:81756600-81777400	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:81757800-81768400	Weak transcription	K562	blood
9	chr14:81759400-81773000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:81760200-81768400	Weak transcription	Placenta	Placenta
11	chr14:81763200-81771600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:81763600-81768400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr14:81763600-81769800	Weak transcription	Spleen	Spleen
14	chr14:81765600-81769800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:81765800-81768400	Weak transcription	NHEK	skin
16	chr14:81766800-81768400	Weak transcription	Fetal Intestine Small	intestine
17	chr14:81767200-81768600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:81767400-81768800	Weak transcription	Liver	Liver
19	chr14:81767400-81770800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:81767400-81771200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:81767600-81768400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr14:81767600-81768600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:81767600-81768600	Enhancers	NHDF-Ad	bronchial
24	chr14:81767600-81769000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr14:81767600-81770400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr14:81767600-81770800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr14:81767600-81771200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr14:81767800-81769000	Enhancers	Stomach Mucosa	stomach
29	chr14:81767800-81769200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr14:81767800-81769400	Enhancers	Psoas Muscle	Psoas
31	chr14:81767800-81769400	Enhancers	HepG2	liver
32	chr14:81767800-81769800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr14:81767800-81770200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:81767800-81770200	Enhancers	Primary hematopoietic stem cells	blood
35	chr14:81768000-81769600	Weak transcription	Brain Anterior Caudate	brain
36	chr14:81768000-81770600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr14:81768200-81768400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr14:81768200-81770000	Enhancers	HMEC	breast
39	chr14:81768200-81770200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:81768200-81771200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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