Variant report

Variant	rs1621497
Chromosome Location	chr13:30933667-30933668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30921585..30925403-chr13:30932567..30935166,3	MCF-7	breast:
2	chr13:30926791..30929464-chr13:30933560..30935693,2	K562	blood:
3	chr13:30932861..30934590-chr13:30945866..30948768,2	MCF-7	breast:
4	chr13:30933041..30935142-chr13:31190292..31192399,2	K562	blood:
5	chr13:30931592..30933734-chr13:30934646..30937027,2	K562	blood:
6	chr13:30929197..30931514-chr13:30931945..30933696,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238121	Chromatin interaction
ENSG00000189403	Chromatin interaction
ENSG00000132952	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1275179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1275180	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1275181	0.85[EUR][1000 genomes]
rs1291150	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13378210	0.91[CEU][hapmap]
rs1754937	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17589894	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs200507	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs200508	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs200509	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs202102	0.82[CEU][hapmap]
rs202103	0.84[ASN][1000 genomes]
rs202108	0.83[ASN][1000 genomes]
rs2077011	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs2149852	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2149853	0.86[EUR][1000 genomes]
rs2152945	0.81[EUR][1000 genomes]
rs2183284	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2185009	0.84[EUR][1000 genomes]
rs2388536	0.86[EUR][1000 genomes]
rs55825913	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs595756	0.84[ASN][1000 genomes]
rs657160	0.84[ASN][1000 genomes]
rs7997259	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9285072	0.80[EUR][1000 genomes]
rs9578163	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9578165	0.82[EUR][1000 genomes]
rs9579556	0.80[EUR][1000 genomes]
rs9579558	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530602	chr13:30911025-31404272	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv455853	chr13:30911531-30951514	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv561394	chr13:30911531-30951514	Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30922200-30937800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr13:30924600-30940000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr13:30927800-30939600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr13:30929200-30938000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr13:30929400-30934600	Weak transcription	Right Atrium	heart
6	chr13:30929400-30938000	Weak transcription	Gastric	stomach
7	chr13:30929400-30944400	Weak transcription	GM12878-XiMat	blood
8	chr13:30929600-30934800	Weak transcription	Spleen	Spleen
9	chr13:30929600-30942800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr13:30929800-30935000	Weak transcription	Fetal Heart	heart
11	chr13:30929800-30938200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr13:30930000-30934400	Weak transcription	Adipose Nuclei	Adipose
13	chr13:30930000-30936000	Weak transcription	Liver	Liver
14	chr13:30930000-30942800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr13:30930200-30939200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:30930200-30939600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr13:30930400-30936400	Weak transcription	Primary B cells from cord blood	blood
18	chr13:30930400-30938000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr13:30930400-30942600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr13:30930400-30942800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr13:30930600-30934200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr13:30930600-30936000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr13:30930600-30937800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr13:30930600-30938200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr13:30930600-30938800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr13:30930600-30942800	Weak transcription	Primary T cells from cord blood	blood
27	chr13:30930600-30942800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr13:30930800-30938400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr13:30930800-30940000	Strong transcription	Thymus	Thymus
30	chr13:30932000-30934800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr13:30932000-30936400	Strong transcription	Fetal Thymus	thymus
32	chr13:30932200-30937200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr13:30933000-30934600	Weak transcription	Dnd41	blood
34	chr13:30933400-30933800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr13:30933600-30933800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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