Variant report

Variant	rs566303273
Chromosome Location	chr6:36163510-36163511
allele	C/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	POLR2A	chr6:36163488-36163521	ProgFib	skin:	n/a	n/a
2	REST	chr6:36163332-36165694	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr6:36163339-36165840	HepG2	liver:	n/a	n/a
4	KAP1	chr6:36163260-36163680	U2OS	brain:	n/a	n/a
5	NRF1	chr6:36163407-36164564	SK-N-SH	brain:	n/a	chr6:36164237-36164246 chr6:36164170-36164179
6	SMC3	chr6:36163462-36165440	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr6:36163291-36164603	A549	lung:	n/a	chr6:36164246-36164264 chr6:36163389-36163410
8	RAD21	chr6:36163224-36164684	SK-N-SH	brain:	n/a	chr6:36164174-36164187 chr6:36163388-36163407 chr6:36164248-36164262
9	POLR2A	chr6:36163274-36165399	H1-neurons	neurons:	n/a	n/a
10	MXI1	chr6:36163233-36165590	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:35992707..35998254-chr6:36162958..36166458,7	K562	blood:
2	chr6:35993989..35997402-chr6:36163188..36166883,8	MCF-7	breast:
3	chr6:36096617..36099142-chr6:36162886..36164936,2	MCF-7	breast:
4	chr6:36152501..36154693-chr6:36162205..36164087,2	MCF-7	breast:
5	chr6:36133204..36136174-chr6:36161325..36163724,2	K562	blood:
6	chr6:36097672..36103046-chr6:36163327..36166048,5	MCF-7	breast:
7	chr6:36098131..36102554-chr6:36163258..36166179,4	K562	blood:
8	chr6:35993265..35998448-chr6:36161633..36166981,11	K562	blood:
9	chr6:36083240..36096353-chr6:36161490..36168411,30	MCF-7	breast:
10	chr6:36097129..36099054-chr6:36162391..36164603,2	K562	blood:
11	chr6:36105269..36110195-chr6:36162724..36166768,9	MCF-7	breast:
12	chr6:36093292..36096677-chr6:36162699..36165787,6	K562	blood:

Variant related genes	Relation type
BRPF3	TF binding region
ENSG00000156711	Chromatin interaction
ENSG00000221743	Chromatin interaction
ENSG00000112062	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3355640	chr6:36163199-36165747	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36149000-36163600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr6:36152600-36163600	Weak transcription	Brain Angular Gyrus	brain
3	chr6:36155800-36163600	Weak transcription	Psoas Muscle	Psoas
4	chr6:36157600-36163800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:36160200-36163600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:36163000-36163600	Enhancers	Primary B cells from cord blood	blood
7	chr6:36163000-36163600	Enhancers	Fetal Thymus	thymus
8	chr6:36163000-36163800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:36163000-36165800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr6:36163200-36163600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr6:36163200-36163600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr6:36163200-36163600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr6:36163200-36163600	Enhancers	K562	blood
14	chr6:36163200-36163800	Enhancers	Primary hematopoietic stem cells	blood
15	chr6:36163200-36163800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:36163200-36163800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr6:36163200-36163800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr6:36163200-36165800	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr6:36163200-36166200	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr6:36163400-36163600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:36163400-36163600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr6:36163400-36163600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:36163400-36163600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:36163400-36163600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr6:36163400-36163600	Enhancers	Primary T cells from cord blood	blood
26	chr6:36163400-36163600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr6:36163400-36163600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr6:36163400-36163600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:36163400-36163600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:36163400-36163600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:36163400-36163600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:36163400-36163600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:36163400-36163600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:36163400-36163600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:36163400-36163600	Enhancers	Adipose Nuclei	Adipose
36	chr6:36163400-36163600	Enhancers	Brain Anterior Caudate	brain
37	chr6:36163400-36163600	Enhancers	Brain Germinal Matrix	brain
38	chr6:36163400-36163600	Enhancers	Brain Hippocampus Middle	brain
39	chr6:36163400-36163600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr6:36163400-36163600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:36163400-36163600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr6:36163400-36163600	Enhancers	Fetal Muscle Leg	muscle
43	chr6:36163400-36163600	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr6:36163400-36163600	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr6:36163400-36163600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr6:36163400-36163600	Enhancers	GM12878-XiMat	blood
47	chr6:36163400-36163600	Enhancers	HUVEC	blood vessel
48	chr6:36163400-36163600	Enhancers	NHEK	skin
49	chr6:36163400-36163600	Enhancers	Osteobl	bone
50	chr6:36163400-36163800	Flanking Active TSS	H1 Cell Line	embryonic stem cell

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