Variant report

Variant	rs575279854
Chromosome Location	chr6:4606605-4606606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr6:4606185-4606644	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr6:4606416-4606616	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr6:4606540-4606690	K562	blood:	n/a	n/a
4	MAX	chr6:4606339-4606621	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr6:4606600-4606750	GM12871	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:4606187..4608803-chr6:4609320..4611011,2	K562	blood:
2	chr6:4606412..4609387-chr6:4772936..4775041,2	MCF-7	breast:
3	chr6:4601505..4603151-chr6:4605939..4607714,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260673	TF binding region
ENSG00000205444	TF binding region
ENSG00000205444	Chromatin interaction
ENSG00000260673	Chromatin interaction
ENSG00000153046	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	esv3421990	chr6:4446933-4659639	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830576	chr6:4447554-4610604	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv883415	chr6:4546491-4629654	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv970370	chr6:4605843-4619763	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4600000-4606800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr6:4601000-4607000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:4601400-4607000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:4601600-4606800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:4601800-4607000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:4603400-4608800	Weak transcription	Spleen	Spleen
7	chr6:4603600-4606800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:4603600-4607200	Weak transcription	Esophagus	oesophagus
9	chr6:4604000-4606800	Weak transcription	HSMMtube	muscle
10	chr6:4604000-4607200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:4604000-4607200	Weak transcription	NHLF	lung
12	chr6:4604400-4606800	Weak transcription	HUVEC	blood vessel
13	chr6:4604400-4606800	Weak transcription	NH-A	brain
14	chr6:4604400-4607000	Weak transcription	NHDF-Ad	bronchial
15	chr6:4604400-4607200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:4604400-4607200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:4604400-4607800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:4604400-4610200	Weak transcription	Fetal Heart	heart
19	chr6:4605400-4607000	Weak transcription	Right Atrium	heart
20	chr6:4605400-4607600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:4605800-4606800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:4606000-4607200	Enhancers	Fetal Muscle Trunk	muscle
23	chr6:4606000-4616800	Enhancers	Fetal Muscle Leg	muscle
24	chr6:4606200-4607000	Enhancers	HMEC	breast
25	chr6:4606400-4607000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr6:4606400-4607000	Enhancers	Brain Angular Gyrus	brain
27	chr6:4606400-4607000	Enhancers	Brain Hippocampus Middle	brain
28	chr6:4606400-4607000	Enhancers	Brain Substantia Nigra	brain
29	chr6:4606400-4607000	Enhancers	Stomach Smooth Muscle	stomach
30	chr6:4606400-4607000	Enhancers	HSMM	muscle
31	chr6:4606400-4607200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr6:4606400-4607600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:4606400-4607600	Enhancers	Lung	lung
34	chr6:4606400-4607600	Enhancers	Right Ventricle	heart
35	chr6:4606400-4608000	Enhancers	Primary T cells fromperipheralblood	blood
36	chr6:4606400-4608200	Enhancers	Fetal Stomach	stomach
37	chr6:4606400-4609000	Enhancers	Adipose Nuclei	Adipose
38	chr6:4606400-4609200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:4606400-4610600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:4606400-4612200	Enhancers	Placenta	Placenta
41	chr6:4606600-4607000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:4606600-4607000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:4606600-4607000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:4606600-4607000	Enhancers	Brain Anterior Caudate	brain
45	chr6:4606600-4607000	Enhancers	Osteobl	bone
46	chr6:4606600-4608000	Enhancers	Fetal Brain Male	brain
47	chr6:4606600-4608200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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