Variant report

Variant	rs4903978
Chromosome Location	chr14:81777831-81777832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81770119..81773155-chr14:81775384..81778548,3	K562	blood:

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

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

rs_ID	r²[population]
rs17631957	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1885603	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]
rs1885605	0.86[CHB][hapmap]
rs2081988	0.83[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.96[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];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34221546	0.82[ASN][1000 genomes]
rs35922586	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5025110	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55923946	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7148483	0.86[CHB][hapmap]
rs8010339	0.82[ASN][1000 genomes]
rs9323698	0.88[CHD][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4903978	STON2	cis	parietal	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81743800-81778400	Weak transcription	Fetal Kidney	kidney
2	chr14:81769400-81781000	Weak transcription	Psoas Muscle	Psoas
3	chr14:81770400-81778200	Weak transcription	Esophagus	oesophagus
4	chr14:81770600-81778600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr14:81771000-81785400	Weak transcription	Fetal Intestine Large	intestine
6	chr14:81771800-81785200	Weak transcription	Fetal Intestine Small	intestine
7	chr14:81772400-81778400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:81773600-81790600	Weak transcription	K562	blood
9	chr14:81775600-81783000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:81776000-81783000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:81776400-81779000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:81776800-81778000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:81776800-81779200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:81776800-81779400	Enhancers	HMEC	breast
15	chr14:81777000-81778800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:81777000-81779200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:81777000-81779600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr14:81777000-81779600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:81777000-81779600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:81777200-81778000	Enhancers	NHEK	skin
21	chr14:81777200-81779200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr14:81777200-81780000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr14:81777200-81781400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr14:81777200-81781600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr14:81777200-81783000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr14:81777200-81784000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr14:81777200-81784200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:81777400-81778600	Enhancers	Adipose Nuclei	Adipose
29	chr14:81777400-81778800	Enhancers	Brain Anterior Caudate	brain
30	chr14:81777400-81779200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:81777400-81779400	Enhancers	Brain Hippocampus Middle	brain
32	chr14:81777400-81781200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr14:81777400-81783000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr14:81777600-81778000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr14:81777600-81778000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:81777600-81778000	Weak transcription	Fetal Muscle Leg	muscle
37	chr14:81777600-81778600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:81777600-81778600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:81777600-81778600	Enhancers	Brain Germinal Matrix	brain
40	chr14:81777600-81778800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr14:81777600-81779000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:81777600-81779200	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr14:81777600-81781400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:81777600-81782800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:81777800-81778400	Enhancers	Primary hematopoietic stem cells	blood
46	chr14:81777800-81778400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:81777800-81778600	Enhancers	Ovary	ovary
48	chr14:81777800-81778600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr14:81777800-81778600	Enhancers	NHDF-Ad	bronchial
50	chr14:81777800-81779600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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