Variant report

Variant	rs6583440
Chromosome Location	chr7:50361683-50361684
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	chr7:50361121..50363660-chr7:50364341..50367253,2	K562	blood:
2	chr7:50356972..50359161-chr7:50360940..50363026,3	K562	blood:

Variant related genes	Relation type
ENSG00000185811	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10269380	0.87[AMR][1000 genomes]
rs6421315	0.82[GIH][hapmap];0.85[TSI][hapmap]
rs6583437	0.87[AMR][1000 genomes]
rs6583438	0.84[AMR][1000 genomes]
rs6583441	0.91[CHB][hapmap];0.88[ASN][1000 genomes]
rs7777365	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7781977	0.87[GIH][hapmap]
rs7789913	0.83[AMR][1000 genomes]
rs7791218	0.87[AMR][1000 genomes]
rs7795319	0.84[AMR][1000 genomes]
rs7802443	0.84[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7804185	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1024102	chr7:50195864-50418159	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr7:50355000-50367200	Weak transcription	Spleen	Spleen
2	chr7:50356200-50367200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:50356400-50364000	Genic enhancers	Fetal Thymus	thymus
4	chr7:50356400-50367200	Weak transcription	Lung	lung
5	chr7:50357800-50369400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:50358400-50362400	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr7:50358400-50369400	Strong transcription	K562	blood
8	chr7:50358400-50369600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:50358600-50362400	Genic enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:50358800-50364000	Genic enhancers	GM12878-XiMat	blood
11	chr7:50359600-50364400	Strong transcription	Dnd41	blood
12	chr7:50359600-50369400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr7:50360200-50362400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:50360400-50362200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:50360400-50362400	Genic enhancers	Primary B cells from cord blood	blood
16	chr7:50360600-50361800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr7:50360600-50361800	Enhancers	Thymus	Thymus
18	chr7:50360600-50363000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
19	chr7:50360800-50361800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:50360800-50362000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:50360800-50362200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr7:50360800-50362200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr7:50361000-50361800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
24	chr7:50361000-50361800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr7:50361000-50362200	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr7:50361200-50361800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:50361200-50362200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:50361200-50362200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:50361400-50361800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:50361400-50361800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr7:50361600-50361800	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr7:50361600-50361800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:50361600-50361800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr7:50361600-50362000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr7:50361600-50362000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:50361600-50362200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr7:50361600-50368800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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