Variant report

Variant	rs2219345
Chromosome Location	chr7:50314299-50314300
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50313753..50316737-chr7:50346108..50348567,2	K562	blood:
2	chr7:50309950..50312947-chr7:50313145..50315008,2	K562	blood:

Variant related genes	Relation type
ENSG00000185811	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1026422	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1026423	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10276619	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12669163	0.92[ASN][1000 genomes]
rs1456893	0.92[ASN][1000 genomes]
rs1456895	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1456896	0.92[ASN][1000 genomes]
rs17552904	0.81[CHB][hapmap]
rs17634369	0.88[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2124799	0.92[ASN][1000 genomes]
rs2168589	0.87[ASN][1000 genomes]
rs2168593	0.92[ASN][1000 genomes]
rs4244229	0.92[ASN][1000 genomes]
rs4917015	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4917127	0.88[ASN][1000 genomes]
rs4917129	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4917130	0.91[ASN][1000 genomes]
rs6583435	0.92[ASN][1000 genomes]
rs6964608	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs748374	0.89[ASN][1000 genomes]
rs921913	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs921914	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9649710	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs981132	0.92[ASN][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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50306800-50314600	Enhancers	Primary T cells fromperipheralblood	blood
2	chr7:50307200-50314800	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr7:50307200-50317600	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:50307400-50314600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:50307400-50316200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr7:50307600-50315600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr7:50307800-50314800	Enhancers	Primary T cells from cord blood	blood
8	chr7:50308600-50316200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr7:50310600-50316600	Enhancers	GM12878-XiMat	blood
10	chr7:50310600-50320800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:50311200-50315200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr7:50311600-50314600	Enhancers	Thymus	Thymus
13	chr7:50311600-50315200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr7:50311600-50315200	Enhancers	Fetal Thymus	thymus
15	chr7:50312200-50315000	Enhancers	Dnd41	blood
16	chr7:50312600-50314600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:50312600-50314800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr7:50312600-50314800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:50312600-50317200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr7:50313000-50314400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr7:50313200-50314400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:50313200-50317200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr7:50313400-50317400	Enhancers	Primary B cells from cord blood	blood
24	chr7:50313600-50317000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr7:50314000-50314400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:50314000-50314400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:50314000-50314400	Enhancers	Esophagus	oesophagus
28	chr7:50314000-50314600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:50314000-50314600	Enhancers	Spleen	Spleen
30	chr7:50314000-50315000	Enhancers	Primary hematopoietic stem cells	blood
31	chr7:50314000-50315200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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