Variant report

Variant	rs6596447
Chromosome Location	chr5:101631986-101631987
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	chr17:62222226..62225133-chr5:101631590..101633345,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199753	Chromatin interaction
ENSG00000266402	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17148608	1.00[EUR][1000 genomes]
rs56782654	1.00[EUR][1000 genomes]
rs57895504	1.00[EUR][1000 genomes]
rs58111494	1.00[EUR][1000 genomes]
rs58512615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59151152	1.00[EUR][1000 genomes]
rs60433831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6876127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6880379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7713888	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022551	chr5:101366177-101649643	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv882505	chr5:101397849-101652251	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1028787	chr5:101432086-101718569	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv817537	chr5:101489151-101992104	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1016176	chr5:101534391-102333606	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv537831	chr5:101534391-102333606	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv522882	chr5:101596633-101782930	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1029894	chr5:101620079-102516827	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101630200-101632000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr5:101630200-101632400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:101630400-101632600	Active TSS	Fetal Intestine Large	intestine
4	chr5:101630400-101632800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:101630400-101632800	Active TSS	Fetal Intestine Small	intestine
6	chr5:101630600-101632000	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr5:101630600-101632400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr5:101630600-101632400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr5:101630600-101632600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:101630600-101632600	Active TSS	Fetal Kidney	kidney
11	chr5:101630800-101632600	Active TSS	Brain Angular Gyrus	brain
12	chr5:101630800-101632600	Active TSS	Rectal Smooth Muscle	rectum
13	chr5:101630800-101632800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr5:101630800-101633000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:101630800-101633000	Active TSS	HepG2	liver
16	chr5:101631000-101632000	Enhancers	Small Intestine	intestine
17	chr5:101631000-101632200	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr5:101631000-101632600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:101631000-101632600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr5:101631000-101632600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:101631000-101632600	Active TSS	Brain Germinal Matrix	brain
22	chr5:101631000-101632800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr5:101631000-101632800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:101631000-101632800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr5:101631200-101632000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr5:101631200-101632000	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr5:101631200-101632000	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr5:101631200-101632400	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr5:101631200-101632400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr5:101631200-101632400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr5:101631200-101632400	Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr5:101631200-101632400	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr5:101631200-101632600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:101631200-101632600	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr5:101631200-101632600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:101631200-101632600	Flanking Active TSS	Fetal Thymus	thymus
37	chr5:101631200-101632800	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr5:101631200-101632800	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr5:101631400-101632000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:101631400-101632000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr5:101631400-101632000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:101631400-101632000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:101631400-101632000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
44	chr5:101631400-101632000	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr5:101631400-101632000	Active TSS	Gastric	stomach
46	chr5:101631400-101632200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:101631400-101632200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:101631400-101632200	Flanking Bivalent TSS/Enh	Placenta	Placenta
49	chr5:101631400-101632400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:101631400-101632400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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