Variant report

Variant	rs60681498
Chromosome Location	chr6:45519315-45519316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45519041..45522740-chr6:45522801..45525463,3	MCF-7	breast:
2	chr6:45389098..45392370-chr6:45517089..45519379,3	MCF-7	breast:
3	chr6:45512077..45515403-chr6:45517360..45519665,3	K562	blood:
4	chr6:45510384..45512325-chr6:45518225..45520271,2	MCF-7	breast:
5	chr6:45517438..45520580-chr6:45520902..45524408,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124813	Chromatin interaction
ENSG00000271857	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1997994	1.00[EUR][1000 genomes]
rs6912472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6932955	1.00[EUR][1000 genomes]
rs6937451	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	nsv1019561	chr6:45485826-45535222	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv538214	chr6:45485826-45535222	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv491939	chr6:45508319-45526327	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45465000-45521600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr6:45489000-45521800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr6:45506800-45523400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:45508200-45521600	Weak transcription	Primary T cells from cord blood	blood
5	chr6:45508200-45530600	Weak transcription	Psoas Muscle	Psoas
6	chr6:45508600-45522400	Weak transcription	Fetal Thymus	thymus
7	chr6:45508800-45523400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:45512000-45524000	Weak transcription	NHEK	skin
9	chr6:45512400-45523400	Weak transcription	Brain Substantia Nigra	brain
10	chr6:45512400-45523400	Weak transcription	HMEC	breast
11	chr6:45512600-45519400	Weak transcription	Fetal Stomach	stomach
12	chr6:45512600-45521600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:45512800-45520200	Weak transcription	Ovary	ovary
14	chr6:45515000-45521600	Weak transcription	Gastric	stomach
15	chr6:45515400-45522400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr6:45515400-45523400	Weak transcription	HSMMtube	muscle
17	chr6:45515600-45520600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr6:45515600-45521200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:45515600-45521600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr6:45515600-45521600	Weak transcription	Esophagus	oesophagus
21	chr6:45515600-45521800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:45515600-45521800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr6:45515800-45522600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:45516000-45519800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:45516000-45521800	Weak transcription	NH-A	brain
26	chr6:45516800-45521400	Weak transcription	HSMM	muscle
27	chr6:45517000-45521600	Weak transcription	NHDF-Ad	bronchial
28	chr6:45517000-45521600	Weak transcription	NHLF	lung
29	chr6:45517000-45521800	Weak transcription	Dnd41	blood
30	chr6:45517000-45526000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:45517200-45520000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:45517200-45521600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:45517200-45521600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:45517200-45521600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:45517200-45521600	Weak transcription	Lung	lung
36	chr6:45517200-45521800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:45517200-45522000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:45517200-45522400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr6:45517200-45524600	Weak transcription	Placenta	Placenta
40	chr6:45517200-45524600	Weak transcription	Spleen	Spleen
41	chr6:45517400-45521600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr6:45517400-45521600	Weak transcription	Osteobl	bone
43	chr6:45517400-45521800	Weak transcription	Hela-S3	cervix
44	chr6:45517400-45523400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr6:45517800-45521200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:45518000-45521600	Weak transcription	Fetal Kidney	kidney
47	chr6:45518200-45522000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:45518400-45519600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:45518800-45519400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:45518800-45523400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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