Variant report

Variant	rs7249992
Chromosome Location	chr19:44682315-44682316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44681823..44684776-chr19:44686009..44688717,4	K562	blood:
2	chr19:44677371..44678908-chr19:44682158..44685017,2	MCF-7	breast:
3	chr19:44675915..44677580-chr19:44681750..44683462,2	K562	blood:
4	chr19:44680640..44683739-chr19:44700164..44703473,3	K562	blood:
5	chr19:44635011..44637758-chr19:44680578..44683004,2	MCF-7	breast:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10153465	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10153499	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10405281	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10406980	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10408004	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409954	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10410283	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412910	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10415563	1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs10415664	0.88[ASN][1000 genomes]
rs10416230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10416292	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10417178	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10420465	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10422555	0.96[ASN][1000 genomes]
rs10422609	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10424371	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10425146	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10425881	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10426314	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1106562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11140	0.90[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11878679	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11878720	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11879588	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11879843	0.90[ASN][1000 genomes]
rs13346417	0.82[ASN][1000 genomes]
rs16959114	0.85[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs16978665	0.83[JPT][hapmap]
rs16978738	0.85[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs16978794	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16978836	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1881748	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141524	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141525	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2178342	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28422007	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3746322	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs3803932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3810137	0.92[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4802212	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802213	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802215	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4803683	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4803685	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4803686	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4803688	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4803692	0.85[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4803693	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55732275	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57418162	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57451052	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58358390	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59576456	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59774711	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60379253	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60747128	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509142	0.81[JPT][hapmap]
rs6509144	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6509147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6509148	1.00[CHB][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7248797	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7250439	0.81[JPT][hapmap]
rs7254034	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254458	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7259777	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs7260367	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7260588	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs73564059	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73564095	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8108504	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8108908	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111388	0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs8111562	0.83[JPT][hapmap]
rs922063	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs922064	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9304639	1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44670600-44688200	ZNF genes & repeats	Liver	Liver
2	chr19:44670800-44683000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:44670800-44683200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr19:44671400-44682600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:44675400-44682600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
6	chr19:44675400-44687600	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr19:44675600-44682400	ZNF genes & repeats	Primary B cells from cord blood	blood
8	chr19:44675600-44682600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
9	chr19:44675600-44682600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:44675600-44682800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr19:44675800-44682800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:44677000-44682800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:44677000-44682800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr19:44677000-44682800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr19:44678000-44682400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:44678000-44682400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr19:44678800-44682600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:44679000-44682400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:44679000-44682400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr19:44680400-44682400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr19:44681600-44682400	Strong transcription	Brain Germinal Matrix	brain
22	chr19:44681600-44683000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr19:44681600-44684800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:44681600-44687800	Weak transcription	Right Ventricle	heart
25	chr19:44681800-44682800	Weak transcription	Fetal Thymus	thymus
26	chr19:44681800-44683000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:44681800-44683400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:44681800-44683400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr19:44681800-44684000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:44681800-44684800	Weak transcription	Fetal Brain Male	brain
31	chr19:44681800-44685400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:44682200-44711200	Weak transcription	Brain Cingulate Gyrus	brain

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