Variant report

Variant	rs12533258
Chromosome Location	chr7:101561056-101561057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101556253..101559058-chr7:101561053..101564216,4	K562	blood:
2	chr7:101559121..101561175-chr7:101561181..101563047,2	MCF-7	breast:
3	chr7:101552906..101555866-chr7:101559658..101561193,2	K562	blood:
4	chr7:101556089..101558949-chr7:101559230..101562198,4	K562	blood:
5	chr7:101560159..101562583-chr7:101565295..101567111,2	MCF-7	breast:
6	chr7:101550842..101553432-chr7:101559510..101561361,2	MCF-7	breast:
7	chr7:101546954..101549494-chr7:101560538..101563127,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10231075	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236615	0.92[ASN][1000 genomes]
rs10238938	0.82[ASN][1000 genomes]
rs10254769	0.82[ASN][1000 genomes]
rs10267777	1.00[ASN][1000 genomes]
rs10276057	0.92[ASN][1000 genomes]
rs2031085	0.92[ASN][1000 genomes]
rs2041008	1.00[ASN][1000 genomes]
rs6465838	1.00[ASN][1000 genomes]
rs6465839	0.92[ASN][1000 genomes]
rs7785266	1.00[ASN][1000 genomes]
rs7796818	1.00[ASN][1000 genomes]
rs7796995	0.92[ASN][1000 genomes]
rs7810922	0.92[ASN][1000 genomes]
rs9969318	0.92[ASN][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	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv482846	chr7:101539981-101707666	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101544000-101569800	Weak transcription	HMEC	breast
2	chr7:101544200-101579800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:101554800-101561400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:101555400-101565600	Weak transcription	Stomach Mucosa	stomach
5	chr7:101555400-101567400	Weak transcription	HUVEC	blood vessel
6	chr7:101556000-101572600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:101556400-101561200	Weak transcription	Fetal Kidney	kidney
8	chr7:101556400-101561400	Weak transcription	HSMM	muscle
9	chr7:101556400-101566800	Weak transcription	NHDF-Ad	bronchial
10	chr7:101557200-101565600	Weak transcription	NH-A	brain
11	chr7:101557400-101566000	Weak transcription	Aorta	Aorta
12	chr7:101557400-101566400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:101557400-101573600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:101557600-101565800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:101557600-101568200	Weak transcription	Brain Anterior Caudate	brain
16	chr7:101557600-101571200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:101558000-101564600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:101558000-101565600	Strong transcription	Fetal Intestine Small	intestine
19	chr7:101558000-101567800	Strong transcription	Dnd41	blood
20	chr7:101558000-101570200	Strong transcription	Fetal Stomach	stomach
21	chr7:101558200-101561600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:101558200-101561800	Genic enhancers	Fetal Thymus	thymus
23	chr7:101558200-101563000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:101558200-101563200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:101558200-101563200	Strong transcription	Primary T cells from cord blood	blood
26	chr7:101558200-101563400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:101558200-101563400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:101558200-101563400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:101558200-101563400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:101558200-101563400	Strong transcription	Thymus	Thymus
31	chr7:101558200-101564600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:101558200-101570400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr7:101558400-101562600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:101558400-101563200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:101558400-101563200	Strong transcription	Lung	lung
36	chr7:101558400-101563400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:101558400-101563400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr7:101558400-101563400	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:101558400-101564000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr7:101558400-101565600	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:101558400-101567000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr7:101558600-101561800	Weak transcription	K562	blood
43	chr7:101558600-101562000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr7:101558600-101563200	Strong transcription	Primary hematopoietic stem cells	blood
45	chr7:101558600-101563400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:101558600-101564000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr7:101558600-101567000	Weak transcription	Psoas Muscle	Psoas
48	chr7:101558600-101577800	Weak transcription	Brain Angular Gyrus	brain
49	chr7:101558800-101562200	Strong transcription	Primary B cells from cord blood	blood
50	chr7:101558800-101563000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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