Variant report

Variant	rs6944477
Chromosome Location	chr7:47853413-47853414
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	chr7:47847893..47850671-chr7:47853007..47855421,2	K562	blood:

Variant related genes	Relation type
ENSG00000158683	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10254483	0.89[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs10280228	0.86[CHB][hapmap]
rs1074780	0.86[CEU][hapmap];0.86[GIH][hapmap];0.84[EUR][1000 genomes]
rs1466203	0.86[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs17628198	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs17710771	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2084951	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28459330	0.91[EUR][1000 genomes]
rs28738706	0.87[EUR][1000 genomes]
rs4720616	0.86[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs4724646	0.85[EUR][1000 genomes]
rs4724647	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs4724649	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58632729	0.88[EUR][1000 genomes]
rs62448555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62448558	0.84[EUR][1000 genomes]
rs6960394	0.95[CEU][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6976799	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781801	0.90[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs7782936	0.93[EUR][1000 genomes]
rs7786516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7798385	0.89[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs7798593	0.90[CEU][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs7806630	0.86[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap]
rs7808397	0.85[EUR][1000 genomes]
rs921634	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47838400-47853600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr7:47846800-47858600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:47847400-47854000	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:47847600-47855800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:47847600-47858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr7:47847800-47854200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:47848400-47857600	Weak transcription	HSMMtube	muscle
8	chr7:47851200-47853600	Enhancers	Brain Cingulate Gyrus	brain
9	chr7:47851200-47853600	Enhancers	Brain Hippocampus Middle	brain
10	chr7:47851200-47853600	Enhancers	HepG2	liver
11	chr7:47851200-47853800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr7:47851200-47854800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr7:47851200-47855200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr7:47852400-47857800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:47852600-47854200	Enhancers	Spleen	Spleen
16	chr7:47852800-47853600	Enhancers	Fetal Intestine Large	intestine
17	chr7:47852800-47853800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr7:47852800-47854000	Enhancers	Fetal Intestine Small	intestine
19	chr7:47852800-47854600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:47852800-47855600	Weak transcription	Right Ventricle	heart
21	chr7:47852800-47856000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:47852800-47879000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:47853000-47853600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:47853000-47853600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr7:47853000-47853800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:47853000-47854000	Weak transcription	Left Ventricle	heart
27	chr7:47853000-47854000	Weak transcription	Lung	lung
28	chr7:47853000-47855800	Enhancers	Adipose Nuclei	Adipose
29	chr7:47853000-47858600	Weak transcription	Placenta	Placenta
30	chr7:47853200-47853600	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr7:47853200-47853800	Enhancers	Primary B cells from cord blood	blood
32	chr7:47853200-47853800	Enhancers	Primary B cells from peripheral blood	blood
33	chr7:47853200-47853800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr7:47853200-47854600	Weak transcription	Brain Anterior Caudate	brain
35	chr7:47853400-47854600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:47853400-47858800	Weak transcription	Brain Substantia Nigra	brain
37	chr7:47853400-47859800	Enhancers	A549	lung

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