Variant report

Variant	rs12533534
Chromosome Location	chr7:2749113-2749114
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:2737260..2740261-chr7:2747906..2751083,3	K562	blood:
2	chr7:2651950..2654587-chr7:2749011..2751356,2	K562	blood:
3	chr7:2710269..2711027-chr7:2749082..2749745,2	MCF-7	breast:
4	chr7:2678990..2680518-chr7:2747383..2749482,2	K562	blood:
5	chr7:2720761..2723624-chr7:2747125..2749875,2	MCF-7	breast:
6	chr7:2744927..2748584-chr7:2749019..2753135,4	MCF-7	breast:
7	chr7:2727165..2732362-chr7:2746794..2750552,7	MCF-7	breast:
8	chr7:2491167..2491856-chr7:2749055..2749558,2	K562	blood:
9	chr7:2710217..2711181-chr7:2749021..2749933,5	K562	blood:
10	chr7:2747802..2752072-chr7:2752381..2756617,8	K562	blood:
11	chr7:2727069..2729394-chr7:2748940..2750951,2	MCF-7	breast:
12	chr7:2748815..2750659-chr7:2753960..2755494,2	MCF-7	breast:
13	chr7:2710031..2712174-chr7:2747759..2749298,2	K562	blood:
14	chr7:2745102..2748560-chr7:2749032..2751394,3	MCF-7	breast:
15	chr7:2738578..2740818-chr7:2747427..2749447,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000174945	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10229817	0.97[ASN][1000 genomes]
rs12530852	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235873	0.99[ASN][1000 genomes]
rs58726146	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58748470	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59438885	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60925902	0.94[ASN][1000 genomes]
rs61128220	0.92[ASN][1000 genomes]
rs62441368	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471227	chr7:2629020-2768864	Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv518027	chr7:2643607-2753667	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1015695	chr7:2654768-2754025	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv538651	chr7:2654768-2754025	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv887309	chr7:2664214-2763102	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv605869	chr7:2672972-2752487	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
7	nsv887312	chr7:2707822-2763102	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1024023	chr7:2726210-2829581	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv538653	chr7:2726210-2829581	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2741600-2749200	Weak transcription	Right Atrium	heart
2	chr7:2741800-2753200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:2742000-2751800	Weak transcription	NHLF	lung
4	chr7:2742200-2749400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:2742200-2765600	Weak transcription	HSMM	muscle
6	chr7:2742600-2749200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:2742600-2749600	Weak transcription	Brain Anterior Caudate	brain
8	chr7:2745000-2749600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:2745800-2749200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:2745800-2749600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:2746000-2750800	Enhancers	Placenta	Placenta
12	chr7:2746600-2749200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:2746600-2753000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:2746800-2749200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:2747200-2749400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:2747200-2749400	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:2747200-2749400	Weak transcription	Fetal Lung	lung
18	chr7:2747400-2749200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:2747400-2749200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:2747400-2749200	Weak transcription	Brain Germinal Matrix	brain
21	chr7:2747400-2749200	Weak transcription	Fetal Intestine Large	intestine
22	chr7:2747400-2749600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:2747400-2749600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:2747800-2753800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:2748000-2749200	Weak transcription	Fetal Intestine Small	intestine
26	chr7:2748000-2749600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:2748000-2750000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:2748200-2750200	Enhancers	Fetal Muscle Leg	muscle
29	chr7:2748200-2750400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr7:2748400-2749200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:2748400-2749200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:2748400-2749200	Weak transcription	Gastric	stomach
33	chr7:2748400-2749400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:2748400-2750400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:2748400-2751000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:2748400-2751200	Flanking Active TSS	GM12878-XiMat	blood
37	chr7:2748400-2751400	Enhancers	Primary hematopoietic stem cells	blood
38	chr7:2748400-2752000	Enhancers	Primary B cells from cord blood	blood
39	chr7:2748600-2749200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:2748600-2749200	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr7:2748600-2749200	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr7:2748600-2749400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:2748600-2749600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:2748600-2749800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr7:2748600-2750200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:2748600-2751200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr7:2748600-2751400	Bivalent Enhancer	Fetal Thymus	thymus
48	chr7:2748800-2749200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:2748800-2749200	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr7:2748800-2749600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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