Variant report

Variant	rs7993522
Chromosome Location	chr13:52317172-52317173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52315507..52317807-chr13:52354965..52356735,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17075881	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075900	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4625625	1.00[YRI][hapmap]
rs7332603	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7332922	0.82[YRI][hapmap]
rs9568650	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832612	chr13:52176983-52362525	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv455884	chr13:52302630-52405251	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv561644	chr13:52302630-52405251	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52288400-52322200	Weak transcription	K562	blood
2	chr13:52296400-52322200	Weak transcription	Fetal Heart	heart
3	chr13:52298000-52322200	Weak transcription	Fetal Brain Female	brain
4	chr13:52300400-52322200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr13:52300600-52321800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr13:52304000-52320400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:52305000-52320400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:52305000-52338200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:52305200-52320400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr13:52305400-52321600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr13:52305400-52321800	Weak transcription	Gastric	stomach
12	chr13:52305800-52322000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr13:52306000-52317800	Weak transcription	Small Intestine	intestine
14	chr13:52306000-52322200	Weak transcription	Left Ventricle	heart
15	chr13:52306000-52322200	Weak transcription	Right Ventricle	heart
16	chr13:52306200-52321400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr13:52306200-52339000	Weak transcription	Fetal Kidney	kidney
18	chr13:52306400-52320400	Weak transcription	Aorta	Aorta
19	chr13:52308000-52319000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:52308000-52322200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr13:52308200-52322200	Weak transcription	Stomach Mucosa	stomach
22	chr13:52308200-52342800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr13:52308400-52320200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr13:52308400-52321000	Weak transcription	Fetal Intestine Small	intestine
25	chr13:52308400-52326800	Weak transcription	Hela-S3	cervix
26	chr13:52308600-52321000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr13:52309800-52318400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr13:52309800-52320600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr13:52309800-52322200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr13:52310000-52321800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr13:52310400-52318800	Weak transcription	Brain Angular Gyrus	brain
32	chr13:52312000-52321400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr13:52312600-52319000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr13:52312600-52322200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr13:52312800-52318600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr13:52312800-52320400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr13:52312800-52321400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr13:52313000-52318400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr13:52313000-52318600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr13:52313000-52319400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr13:52313000-52319400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr13:52313000-52319600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr13:52313000-52321000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr13:52313000-52321000	Strong transcription	Primary T cells from cord blood	blood
45	chr13:52313200-52318000	Enhancers	Ovary	ovary
46	chr13:52313200-52319400	Strong transcription	HMEC	breast
47	chr13:52313400-52318400	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr13:52313400-52321600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr13:52313600-52320000	Strong transcription	Primary hematopoietic stem cells	blood
50	chr13:52313800-52320600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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