Variant report

Variant	rs2146244
Chromosome Location	chr14:81786278-81786279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81769150..81771592-chr14:81784774..81786401,2	K562	blood:
2	chr14:81784724..81787230-chr14:81789056..81790598,3	MCF-7	breast:
3	chr11:61841676..61843276-chr14:81785709..81787593,4	MCF-7	breast:
4	chr14:81684734..81687566-chr14:81785566..81790169,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction
ENSG00000140022	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10138868	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10141989	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10142173	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10149489	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10873336	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11626709	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11626733	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12146979	0.87[ASN][1000 genomes]
rs12588160	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12588234	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1885604	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1957542	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1957543	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1957544	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1957545	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1957548	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2371574	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28501387	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28622938	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4903976	0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.92[ASN][1000 genomes]
rs4903977	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4903979	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4903980	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55744181	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6574638	0.95[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.92[ASN][1000 genomes]
rs6574639	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6574640	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6574641	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6574642	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6574643	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6574644	0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6574645	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7145964	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7146488	0.95[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7153097	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7153538	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7153613	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7154309	0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7155930	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7156146	0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7156251	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7160788	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8003051	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8006006	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8010545	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8021083	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs919378	0.83[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap];0.81[EUR][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	esv3433531	chr14:81786188-81786983	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2146244	ALKBH1	cis	parietal	SCAN
rs2146244	ESRRB	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81773600-81790600	Weak transcription	K562	blood
2	chr14:81778400-81810800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:81778600-81786400	Weak transcription	Adipose Nuclei	Adipose
4	chr14:81778600-81789200	Weak transcription	Esophagus	oesophagus
5	chr14:81779600-81787000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:81779600-81788200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:81780400-81786400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:81780600-81790400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:81781000-81798400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr14:81781200-81792400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:81782000-81787000	Weak transcription	Spleen	Spleen
12	chr14:81782200-81790200	Weak transcription	Placenta	Placenta
13	chr14:81782200-81790600	Weak transcription	Psoas Muscle	Psoas
14	chr14:81782400-81788400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:81782400-81789000	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:81782600-81790200	Weak transcription	Fetal Muscle Leg	muscle
17	chr14:81782800-81788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:81783000-81787400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr14:81783000-81788000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:81783000-81788000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:81783000-81788800	Weak transcription	Fetal Kidney	kidney
22	chr14:81783000-81789000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:81783000-81789000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr14:81783400-81786600	Strong transcription	HMEC	breast
25	chr14:81783600-81786600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:81783600-81787000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:81783600-81788000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:81783600-81788600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr14:81784000-81786600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:81784000-81787200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:81784000-81787400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:81784200-81786400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:81784200-81786600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:81784200-81789200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:81784800-81786800	Enhancers	HepG2	liver
36	chr14:81785000-81787000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:81785200-81787600	Enhancers	Fetal Intestine Small	intestine
38	chr14:81785400-81786600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:81785400-81786600	Weak transcription	NHEK	skin
40	chr14:81785400-81787000	Enhancers	Fetal Intestine Large	intestine
41	chr14:81786000-81786600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr14:81786000-81786600	Enhancers	Stomach Mucosa	stomach
43	chr14:81786200-81787200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:81786200-81787200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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