Variant report

Variant	rs322805
Chromosome Location	chr7:127747618-127747619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127747173..127749516-chr7:127758374..127760292,2	K562	blood:
2	chr7:127740635..127743022-chr7:127746178..127748843,2	MCF-7	breast:
3	chr7:127746979..127749085-chr7:127751994..127753543,2	K562	blood:
4	chr7:127231985..127234573-chr7:127746550..127748851,2	K562	blood:

Variant related genes	Relation type
ENSG00000179562	Chromatin interaction
ENSG00000106328	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11973309	0.90[AFR][1000 genomes]
rs11974695	0.90[AFR][1000 genomes]
rs11979138	0.90[AFR][1000 genomes]
rs28613957	0.81[AFR][1000 genomes]
rs73469528	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127734400-127748200	Weak transcription	Dnd41	blood
2	chr7:127744600-127761600	Weak transcription	Right Atrium	heart
3	chr7:127744800-127748600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr7:127744800-127748800	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr7:127744800-127753200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr7:127744800-127753400	Enhancers	Primary B cells from peripheral blood	blood
7	chr7:127745000-127747800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:127745800-127747800	Weak transcription	Spleen	Spleen
9	chr7:127745800-127749000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr7:127746400-127753400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:127746600-127748400	Enhancers	Primary T cells from cord blood	blood
12	chr7:127746600-127748400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr7:127746600-127748800	Enhancers	Primary B cells from cord blood	blood
14	chr7:127746800-127748400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr7:127746800-127748400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr7:127746800-127748600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:127746800-127749000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr7:127746800-127749000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr7:127747000-127749200	Enhancers	Fetal Thymus	thymus
20	chr7:127747000-127753400	Enhancers	Thymus	Thymus
21	chr7:127747200-127749600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:127747400-127748400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:127747400-127750000	Enhancers	Primary hematopoietic stem cells	blood
24	chr7:127747600-127747800	Bivalent Enhancer	Fetal Stomach	stomach
25	chr7:127747600-127748000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:127747600-127748400	Weak transcription	Fetal Brain Female	brain
27	chr7:127747600-127748600	Weak transcription	Fetal Brain Male	brain
28	chr7:127747600-127749000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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