Variant report

Variant	rs322791
Chromosome Location	chr7:127748372-127748373
allele	C/G
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: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs178733	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs184430	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs322738	0.84[ASN][1000 genomes]
rs322752	0.81[ASN][1000 genomes]
rs322755	0.81[EUR][1000 genomes]
rs322756	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322760	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322761	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322762	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322765	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322766	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322768	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322770	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322771	0.89[ASN][1000 genomes]
rs322775	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs322778	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs322780	0.95[ASN][1000 genomes]
rs322782	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs322783	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs322784	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs322785	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs322786	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322787	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322790	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322807	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322808	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322809	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322811	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322812	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322815	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs322818	0.97[ASN][1000 genomes]
rs4731395	0.81[AFR][1000 genomes]
rs5028619	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467159	0.80[AFR][1000 genomes]
rs6467160	0.82[AFR][1000 genomes]
rs6467163	0.82[AFR][1000 genomes]
rs6960004	0.95[ASN][1000 genomes]
rs759710	0.82[AFR][1000 genomes]
rs7792971	0.81[AFR][1000 genomes]
rs7793071	0.81[AFR][1000 genomes]
rs7803045	0.81[AFR][1000 genomes]
rs7803473	0.82[AFR][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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127744600-127761600	Weak transcription	Right Atrium	heart
2	chr7:127744800-127748600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr7:127744800-127748800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr7:127744800-127753200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:127744800-127753400	Enhancers	Primary B cells from peripheral blood	blood
6	chr7:127745800-127749000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr7:127746400-127753400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:127746600-127748400	Enhancers	Primary T cells from cord blood	blood
9	chr7:127746600-127748400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr7:127746600-127748800	Enhancers	Primary B cells from cord blood	blood
11	chr7:127746800-127748400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr7:127746800-127748400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr7:127746800-127748600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:127746800-127749000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr7:127746800-127749000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr7:127747000-127749200	Enhancers	Fetal Thymus	thymus
17	chr7:127747000-127753400	Enhancers	Thymus	Thymus
18	chr7:127747200-127749600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:127747400-127748400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:127747400-127750000	Enhancers	Primary hematopoietic stem cells	blood
21	chr7:127747600-127748400	Weak transcription	Fetal Brain Female	brain
22	chr7:127747600-127748600	Weak transcription	Fetal Brain Male	brain
23	chr7:127747600-127749000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:127747800-127749400	Enhancers	Spleen	Spleen
25	chr7:127747800-127753000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:127748000-127748600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr7:127748200-127748400	Enhancers	GM12878-XiMat	blood
28	chr7:127748200-127748600	Enhancers	Duodenum Mucosa	Duodenum
29	chr7:127748200-127748600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr7:127748200-127749200	Enhancers	Dnd41	blood
31	chr7:127748200-127749800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:127748200-127750200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:127748200-127751400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:127748200-127751400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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