Variant report

Variant	rs6941748
Chromosome Location	chr6:45557327-45557328
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45386927..45390335-chr6:45556435..45559579,4	MCF-7	breast:
2	chr6:45540470..45542325-chr6:45555218..45557403,2	MCF-7	breast:
3	chr6:45554176..45557433-chr6:45573679..45578604,5	MCF-7	breast:
4	chr6:45552449..45555221-chr6:45555644..45558229,2	K562	blood:

Variant related genes	Relation type
ENSG00000271857	Chromatin interaction
ENSG00000124813	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10948242	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11751172	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11751184	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13200687	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs13205082	0.97[AFR][1000 genomes];0.81[AMR][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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription 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 miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45537400-45559000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:45551600-45557800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr6:45553000-45558600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:45554000-45559800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:45554000-45559800	Enhancers	HMEC	breast
6	chr6:45554200-45560000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:45554400-45557400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:45554400-45558200	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:45554400-45560000	Enhancers	NHEK	skin
10	chr6:45554400-45567200	Weak transcription	Small Intestine	intestine
11	chr6:45554600-45557800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:45554600-45558800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr6:45554800-45557600	Enhancers	Primary T cells from cord blood	blood
14	chr6:45554800-45558000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:45554800-45558200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr6:45554800-45558400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr6:45554800-45558600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:45554800-45558800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr6:45554800-45558800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr6:45554800-45559200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr6:45554800-45560800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr6:45554800-45564600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:45555200-45559000	Weak transcription	Stomach Mucosa	stomach
24	chr6:45555400-45559000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:45555600-45559200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:45555600-45559600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:45555600-45560400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:45555800-45558000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:45555800-45558600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:45556000-45557800	Weak transcription	HSMM	muscle
31	chr6:45556400-45557600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:45556400-45557600	Bivalent Enhancer	Fetal Lung	lung
33	chr6:45556400-45561000	Enhancers	Hela-S3	cervix
34	chr6:45556600-45559200	Enhancers	Fetal Stomach	stomach
35	chr6:45556600-45560600	Enhancers	Fetal Kidney	kidney
36	chr6:45557000-45557600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:45557000-45557600	Enhancers	Esophagus	oesophagus
38	chr6:45557000-45559200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr6:45557200-45559600	Enhancers	NHLF	lung
40	chr6:45557200-45560200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr6:45557200-45560400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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