Variant report

Variant	rs7749796
Chromosome Location	chr6:44890732-44890733
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:44888776..44891351-chr6:45344894..45347692,2	K562	blood:
2	chr6:44879682..44885595-chr6:44885746..44891635,7	K562	blood:

Variant related genes	Relation type
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10498757	1.00[ASN][1000 genomes]
rs13436998	0.88[AFR][1000 genomes]
rs16872751	1.00[CHB][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16873056	0.82[CEU][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16873073	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16873103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16873150	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs17209608	0.82[CEU][hapmap]
rs2090832	1.00[CHB][hapmap]
rs2396374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28843161	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59606274	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6912535	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6925770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73438898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73442933	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73443219	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73443229	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73443286	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73444394	1.00[ASN][1000 genomes]
rs73444966	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73444983	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73447073	1.00[ASN][1000 genomes]
rs73447433	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73448343	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7742332	1.00[CEU][hapmap]
rs7751298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7766901	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7768241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296447	0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9296450	1.00[YRI][hapmap]
rs9296451	1.00[CEU][hapmap]
rs9463046	1.00[CHB][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9463053	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9463056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9463058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9463066	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs9472371	1.00[CHB][hapmap]
rs9472372	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9472373	1.00[CHB][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9472374	1.00[CHB][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9472375	1.00[CHB][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9472377	1.00[CHB][hapmap]
rs9472379	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9472381	1.00[CHB][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9472384	1.00[CHB][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9472390	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472391	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472393	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472395	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472412	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472414	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs9472421	1.00[CEU][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472424	1.00[ASN][1000 genomes]
rs9472427	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs9472433	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs9472434	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs9472435	1.00[ASN][1000 genomes]
rs9472436	1.00[ASN][1000 genomes]
rs9472438	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs9885623	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885861	chr6:44837356-45043618	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1033815	chr6:44845514-44938799	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv5286	chr6:44865290-44909915	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1024370	chr6:44878053-45251451	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	esv2758051	chr6:44879791-45056758	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2759423	chr6:44879791-45056758	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44877800-44892800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:44881000-44894600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:44885600-44899200	Weak transcription	Fetal Stomach	stomach
4	chr6:44887000-44893200	Weak transcription	NHDF-Ad	bronchial
5	chr6:44888000-44893000	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr6:44888000-44893800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr6:44888000-44896200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr6:44888200-44896200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:44888400-44893800	Enhancers	Primary T cells from cord blood	blood
10	chr6:44888600-44893600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr6:44889200-44890800	Enhancers	Liver	Liver
12	chr6:44889200-44891000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:44889200-44891200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:44889200-44891400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:44889200-44892800	Weak transcription	K562	blood
16	chr6:44889200-44893000	Weak transcription	NH-A	brain
17	chr6:44889400-44892800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:44889600-44892800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:44890000-44891400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:44890000-44892800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr6:44890000-44893000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr6:44890000-44893000	Weak transcription	Stomach Mucosa	stomach
23	chr6:44890200-44892800	Weak transcription	Fetal Heart	heart
24	chr6:44890200-44893000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:44890600-44892800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr6:44890600-44893000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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