Variant report

Variant	rs6812996
Chromosome Location	chr4:15849763-15849764
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10516293	0.83[AMR][1000 genomes]
rs11574930	1.00[AMR][1000 genomes]
rs13101505	1.00[JPT][hapmap]
rs4426771	1.00[AMR][1000 genomes]
rs4478185	1.00[AMR][1000 genomes]
rs6813018	1.00[AMR][1000 genomes]
rs6820423	1.00[AMR][1000 genomes]
rs6847178	1.00[AMR][1000 genomes]
rs6849253	1.00[AMR][1000 genomes]
rs73799151	1.00[AMR][1000 genomes]
rs73799153	1.00[AMR][1000 genomes]
rs7660275	1.00[AMR][1000 genomes]
rs7700051	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916742	chr4:15797994-16064232	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv878714	chr4:15840839-15895791	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv878715	chr4:15840839-15947493	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15811400-15851200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:15811400-15852200	Weak transcription	Spleen	Spleen
3	chr4:15819200-15853400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:15827600-15853400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:15834800-15851800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr4:15834800-15852800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:15835000-15857400	Weak transcription	Psoas Muscle	Psoas
8	chr4:15840400-15855400	Weak transcription	Liver	Liver
9	chr4:15842600-15854400	Weak transcription	Left Ventricle	heart
10	chr4:15842600-15856600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr4:15843000-15853600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr4:15843200-15849800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr4:15843200-15850200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr4:15843200-15852000	Weak transcription	Primary B cells from cord blood	blood
15	chr4:15843200-15852000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:15843200-15852000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr4:15843200-15853000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:15849200-15850400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:15849400-15850400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:15849400-15850400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:15849400-15850400	Enhancers	HMEC	breast
22	chr4:15849400-15852800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:15849400-15854000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:15849400-15854000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:15849400-15855200	Strong transcription	Primary T cells from cord blood	blood
26	chr4:15849400-15855200	Strong transcription	Dnd41	blood
27	chr4:15849400-15855600	Strong transcription	Fetal Thymus	thymus
28	chr4:15849400-15855800	Strong transcription	Thymus	Thymus
29	chr4:15849600-15850200	Flanking Active TSS	NHEK	skin
30	chr4:15849600-15850800	Strong transcription	Primary monocytes fromperipheralblood	blood

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