Variant report

Variant	rs7754227
Chromosome Location	chr6:45472737-45472738
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45387751..45393702-chr6:45470128..45480232,15	MCF-7	breast:
2	chr6:45472331..45474237-chr6:45572643..45575608,3	MCF-7	breast:
3	chr6:45465666..45468253-chr6:45472384..45474862,2	MCF-7	breast:
4	chr6:45468999..45471177-chr6:45472173..45475442,3	K562	blood:

Variant related genes	Relation type
ENSG00000271857	Chromatin interaction
ENSG00000124813	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17288411	1.00[CHB][hapmap]
rs62400362	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400365	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914610	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs73737440	1.00[ASN][1000 genomes]
rs7750266	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7750470	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7773875	0.92[CEU][hapmap];0.99[EUR][1000 genomes]
rs9463097	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45461200-45480000	Weak transcription	NHDF-Ad	bronchial
2	chr6:45464800-45479800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr6:45465000-45479400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:45465000-45480000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:45465000-45521600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr6:45465800-45480000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr6:45466000-45480200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr6:45466400-45483400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:45466800-45488200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:45466800-45497200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:45467200-45475400	Weak transcription	Small Intestine	intestine
12	chr6:45467200-45480000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr6:45467200-45487800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:45467400-45480000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:45467600-45480000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:45469800-45473400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:45469800-45473800	Enhancers	Hela-S3	cervix
18	chr6:45469800-45474000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:45470200-45475000	Genic enhancers	HSMM	muscle
20	chr6:45471000-45473400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr6:45471000-45479000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr6:45471200-45472800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:45471200-45473600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr6:45471200-45474000	Enhancers	Fetal Thymus	thymus
25	chr6:45471600-45473600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:45471600-45474600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:45471800-45473400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:45471800-45473600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:45471800-45473600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:45471800-45473600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:45471800-45473800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:45471800-45474000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr6:45471800-45474200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr6:45471800-45474800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr6:45472000-45473400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:45472000-45473600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:45472000-45473600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:45472000-45473800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr6:45472000-45473800	Enhancers	NHLF	lung
40	chr6:45472000-45474000	Enhancers	Primary T cells from cord blood	blood
41	chr6:45472000-45474000	Enhancers	Dnd41	blood
42	chr6:45472000-45474200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr6:45472000-45477200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr6:45472200-45472800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr6:45472200-45472800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:45472200-45473400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr6:45472200-45473600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:45472200-45473600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr6:45472200-45473800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr6:45472200-45473800	Enhancers	HUES64 Cell Line	embryonic stem cell

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