Variant report

Variant	rs530655588
Chromosome Location	chr6:80715364-80715365
allele	C/T
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	MXI1	chr6:80713571-80715375	IMR90	lung:	n/a	n/a
2	JUND	chr6:80713819-80715468	K562	blood:	n/a	chr6:80715313-80715322
3	E2F4	chr6:80713236-80716364	MCF10A-Er-Src	breast:	n/a	chr6:80713962-80713969 chr6:80715312-80715321 chr6:80713962-80713969 chr6:80714200-80714210 chr6:80713962-80713969 chr6:80715314-80715323
4	JUND	chr6:80715137-80715511	HepG2	liver:	n/a	chr6:80715313-80715322
5	POLR2A	chr6:80713862-80715553	K562	blood:	n/a	n/a
6	GATA1	chr6:80714056-80715375	PBDE	blood:	n/a	chr6:80714967-80714976 chr6:80714967-80714977 chr6:80714873-80714882
7	JUN	chr6:80715127-80715484	HepG2	liver:	n/a	chr6:80715312-80715325 chr6:80715313-80715322
8	POLR2A	chr6:80713208-80715469	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
TTK	TF binding region

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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv5370	chr6:80715351-80751740	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80713200-80715400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr6:80713200-80715400	Active TSS	NHDF-Ad	bronchial
3	chr6:80713200-80715600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr6:80713400-80715400	Active TSS	Fetal Intestine Large	intestine
5	chr6:80713400-80715600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:80713400-80715800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:80713400-80715800	Active TSS	A549	lung
8	chr6:80713400-80717200	Active TSS	Thymus	Thymus
9	chr6:80713600-80715400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr6:80713600-80715400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:80713600-80715400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:80713600-80715600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr6:80713600-80715600	Active TSS	H1 Cell Line	embryonic stem cell
14	chr6:80713600-80715600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:80713600-80715600	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr6:80713600-80716000	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr6:80713600-80716000	Active TSS	NHLF	lung
18	chr6:80713800-80715800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr6:80713800-80716600	Active TSS	Fetal Thymus	thymus
20	chr6:80714000-80715600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:80714000-80715800	Active TSS	HMEC	breast
22	chr6:80714000-80716000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:80714000-80716000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:80714000-80716800	Active TSS	GM12878-XiMat	blood
25	chr6:80714600-80715400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:80714600-80715400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:80714600-80715400	Flanking Active TSS	Fetal Lung	lung
28	chr6:80714600-80715400	Flanking Active TSS	Fetal Stomach	stomach
29	chr6:80714600-80715600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:80714600-80715600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr6:80714600-80715600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:80714600-80715600	Flanking Active TSS	HUVEC	blood vessel
33	chr6:80714800-80715400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr6:80714800-80715400	Flanking Active TSS	Fetal Heart	heart
35	chr6:80714800-80715400	Flanking Active TSS	Dnd41	blood
36	chr6:80714800-80715400	Flanking Active TSS	Osteobl	bone
37	chr6:80714800-80715600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr6:80714800-80715600	Flanking Active TSS	Hela-S3	cervix
39	chr6:80714800-80715600	Flanking Active TSS	HSMM	muscle
40	chr6:80714800-80738800	Weak transcription	Small Intestine	intestine
41	chr6:80715000-80715400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:80715000-80715400	Active TSS	Brain Germinal Matrix	brain
43	chr6:80715000-80715400	Flanking Active TSS	Fetal Kidney	kidney
44	chr6:80715000-80715400	Active TSS	Fetal Muscle Leg	muscle
45	chr6:80715000-80715400	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr6:80715000-80715600	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr6:80715000-80715600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr6:80715000-80715600	Flanking Active TSS	HepG2	liver
49	chr6:80715000-80715600	Flanking Active TSS	NHEK	skin
50	chr6:80715000-80717400	Weak transcription	Primary monocytes fromperipheralblood	blood

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