Variant report

Variant	rs1456896
Chromosome Location	chr7:50304461-50304462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50301953..50306241-chr7:50308308..50311979,4	K562	blood:
2	chr7:50295741..50297985-chr7:50302311..50304565,2	K562	blood:
3	chr7:50301953..50305153-chr7:50308308..50311293,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1026423	0.92[ASN][1000 genomes]
rs10276619	0.81[ASN][1000 genomes]
rs12669163	1.00[ASN][1000 genomes]
rs12718257	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1456893	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1456895	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17634369	0.84[TSI][hapmap]
rs2124799	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2168589	0.94[ASN][1000 genomes]
rs2168593	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2219345	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4244229	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4917127	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4917130	0.94[ASN][1000 genomes]
rs6583435	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs748374	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs921913	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs921914	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9649710	0.96[ASN][1000 genomes]
rs9656588	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs981132	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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

Variant related diseases (count:2)

Disease	PMID	Source
Inflammatory bowel disease	23128233	GWAS catalog
Crohn's disease	21102463	GWAS catalog

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50298000-50306200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr7:50299000-50306000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:50299200-50305600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr7:50299200-50305800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr7:50300000-50306000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr7:50300200-50306000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:50300400-50305800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr7:50300800-50306400	Enhancers	Primary hematopoietic stem cells	blood
9	chr7:50301000-50305600	Enhancers	Fetal Thymus	thymus
10	chr7:50301000-50306400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:50301200-50306200	Enhancers	K562	blood
12	chr7:50301800-50306200	Enhancers	Primary B cells from cord blood	blood
13	chr7:50301800-50306200	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:50301800-50310000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr7:50302000-50304800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:50302200-50305600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:50302400-50304800	Enhancers	Primary T cells from cord blood	blood
18	chr7:50302400-50305600	Weak transcription	Spleen	Spleen
19	chr7:50302600-50305400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:50302600-50305600	Enhancers	Dnd41	blood
21	chr7:50302800-50305600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr7:50302800-50305600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr7:50303400-50305800	Enhancers	Thymus	Thymus
24	chr7:50303400-50306200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr7:50304000-50305000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:50304000-50305000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:50304200-50304600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr7:50304400-50304600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:50304400-50304600	Flanking Active TSS	GM12878-XiMat	blood
30	chr7:50304400-50305000	Enhancers	Primary T helper cells PMA-I stimulated	--

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