Variant report

Variant	rs72950895
Chromosome Location	chr3:113294697-113294698
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:113286843..113290980-chr3:113291829..113295911,3	MCF-7	breast:
2	chr3:113288086..113290145-chr3:113293668..113296433,2	K562	blood:
3	chr3:113251742..113258014-chr3:113293792..113298380,10	MCF-7	breast:
4	chr3:113286531..113289176-chr3:113294498..113297026,2	MCF-7	breast:
5	chr3:113232536..113236068-chr3:113294639..113298182,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072858	Chromatin interaction
ENSG00000163611	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13327031	0.81[EUR][1000 genomes]
rs13353449	0.81[EUR][1000 genomes]
rs2399487	0.81[EUR][1000 genomes]
rs28539944	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28614095	1.00[EUR][1000 genomes]
rs4419353	0.81[EUR][1000 genomes]
rs6438154	0.81[EUR][1000 genomes]
rs6763234	0.81[EUR][1000 genomes]
rs6779241	0.81[EUR][1000 genomes]
rs6780720	0.81[EUR][1000 genomes]
rs6781507	0.81[EUR][1000 genomes]
rs6797630	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808103	0.81[EUR][1000 genomes]
rs72950893	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7645188	0.81[EUR][1000 genomes]
rs9810059	0.81[EUR][1000 genomes]
rs9810754	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9827490	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9827772	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9829540	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9846529	1.00[EUR][1000 genomes]
rs9852068	0.81[EUR][1000 genomes]
rs9860473	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9878186	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv877349	chr3:113208224-113323787	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv877350	chr3:113208224-113332235	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113279200-113300000	Weak transcription	Thymus	Thymus
2	chr3:113280200-113299200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:113280200-113321600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:113280400-113304000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:113280600-113302400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr3:113280600-113314800	Weak transcription	Spleen	Spleen
7	chr3:113281400-113302200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr3:113281600-113296400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:113281800-113296200	Strong transcription	Primary T cells from cord blood	blood
10	chr3:113283200-113296200	Strong transcription	GM12878-XiMat	blood
11	chr3:113285200-113329800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:113285200-113343400	Weak transcription	Small Intestine	intestine
13	chr3:113286000-113316800	Weak transcription	Brain Angular Gyrus	brain
14	chr3:113287200-113301400	Weak transcription	Fetal Thymus	thymus
15	chr3:113287800-113298600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr3:113287800-113299200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr3:113288000-113300000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:113288000-113302200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr3:113289800-113299400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr3:113290000-113296400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr3:113290000-113296400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:113291800-113296200	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr3:113292200-113297800	Weak transcription	Primary B cells from cord blood	blood
24	chr3:113292400-113295400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:113292800-113295000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:113293000-113295000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr3:113293400-113295000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr3:113293400-113296000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:113293400-113296800	Enhancers	HepG2	liver
30	chr3:113293600-113295000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:113293800-113295000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:113293800-113299600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr3:113294200-113294800	Enhancers	Brain Germinal Matrix	brain
34	chr3:113294200-113294800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr3:113294200-113296000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr3:113294400-113295800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr3:113294400-113296600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:113294400-113321600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr3:113294600-113295000	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr3:113294600-113296000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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