Variant report

Variant	rs12533398
Chromosome Location	chr7:6267614-6267615
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6267164..6269525-chr7:6282564..6284921,2	K562	blood:
2	chr7:6267386..6270173-chr7:6273656..6275237,2	MCF-7	breast:
3	chr7:6266989..6268669-chr7:6270882..6273016,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17136085	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17136348	1.00[CEU][hapmap]
rs2302329	1.00[CEU][hapmap]
rs3213665	1.00[CEU][hapmap]
rs3828954	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs57196315	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs57240861	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59284534	0.82[EUR][1000 genomes]
rs7803143	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7810779	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
5	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
7	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv482829	chr7:6231809-6407606	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1032987	chr7:6246313-6373054	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv538714	chr7:6246313-6373054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6229400-6270600	Weak transcription	Gastric	stomach
2	chr7:6254600-6267800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:6259400-6276800	Weak transcription	Aorta	Aorta
4	chr7:6261600-6268400	Weak transcription	Primary T cells from cord blood	blood
5	chr7:6262000-6269400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr7:6262000-6270600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:6262200-6268000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr7:6262200-6270600	Weak transcription	Lung	lung
9	chr7:6263600-6269800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr7:6264000-6269200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr7:6264400-6268200	Enhancers	Primary hematopoietic stem cells	blood
12	chr7:6264800-6268200	Weak transcription	Small Intestine	intestine
13	chr7:6265200-6268000	Enhancers	Fetal Stomach	stomach
14	chr7:6265400-6267800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:6265400-6267800	Enhancers	Rectal Smooth Muscle	rectum
16	chr7:6265400-6267800	Enhancers	K562	blood
17	chr7:6265400-6268000	Enhancers	HSMMtube	muscle
18	chr7:6265400-6268200	Enhancers	Fetal Muscle Leg	muscle
19	chr7:6265400-6269200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:6265400-6269200	Enhancers	Adipose Nuclei	Adipose
21	chr7:6265400-6269800	Enhancers	Left Ventricle	heart
22	chr7:6265600-6268000	Enhancers	NHLF	lung
23	chr7:6265600-6268200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:6265600-6268200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr7:6265600-6268800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:6265800-6267800	Enhancers	Stomach Smooth Muscle	stomach
27	chr7:6266000-6268200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:6266000-6269000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:6266200-6268400	Enhancers	Colon Smooth Muscle	Colon
30	chr7:6266200-6268400	Weak transcription	Stomach Mucosa	stomach
31	chr7:6266200-6268400	Enhancers	NHDF-Ad	bronchial
32	chr7:6266200-6268600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:6266200-6269000	Enhancers	A549	lung
34	chr7:6266400-6268000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:6266400-6268000	Weak transcription	Placenta	Placenta
36	chr7:6266400-6268200	Weak transcription	NHEK	skin
37	chr7:6266800-6268000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:6266800-6268800	Enhancers	Brain Hippocampus Middle	brain
39	chr7:6266800-6269000	Enhancers	Osteobl	bone
40	chr7:6267000-6267800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:6267000-6267800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:6267000-6267800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:6267000-6268000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr7:6267000-6268200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:6267000-6268200	Enhancers	Brain Angular Gyrus	brain
46	chr7:6267000-6268200	Enhancers	Right Atrium	heart
47	chr7:6267000-6268600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr7:6267000-6268600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:6267000-6268800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:6267000-6268800	Enhancers	Brain Anterior Caudate	brain

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