Variant report

Variant	rs542230221
Chromosome Location	chr7:105319203-105319204
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	MYC	chr7:105317779-105319849	NB4	blood:	n/a	chr7:105319452-105319461
2	GATA1	chr7:105317655-105320231	PBDE	blood:	n/a	chr7:105318785-105318796 chr7:105318251-105318260 chr7:105318248-105318264 chr7:105318947-105318957
3	ELF1	chr7:105319068-105319649	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:105317899-105319914	PBDE	blood:	n/a	n/a
5	POLR2A	chr7:105317264-105320036	HL-60	blood:	n/a	n/a
6	MXI1	chr7:105319116-105319831	IMR90	lung:	n/a	n/a
7	POLR2A	chr7:105318631-105320018	HL-60	blood:	n/a	n/a
8	MAX	chr7:105317797-105319797	NB4	blood:	n/a	chr7:105319452-105319461
9	REST	chr7:105318101-105319945	HL-60	blood:	n/a	chr7:105319306-105319316 chr7:105319824-105319834 chr7:105319790-105319797

Variant related genes	Relation type
ATXN7L1	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528739	chr7:105318058-105346117	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105280800-105319400	Weak transcription	Aorta	Aorta
2	chr7:105290400-105321800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:105306200-105319400	Weak transcription	HSMMtube	muscle
4	chr7:105306200-105325200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:105314200-105320600	Weak transcription	HepG2	liver
6	chr7:105314600-105319400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:105315200-105319400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:105315200-105320600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:105315200-105324200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:105315800-105319400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:105315800-105319400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:105315800-105319400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:105315800-105319800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:105315800-105320000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:105315800-105323200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:105316000-105320000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr7:105316200-105319800	Flanking Active TSS	Fetal Thymus	thymus
18	chr7:105316400-105320600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:105316800-105319400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:105316800-105321000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:105317400-105320000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:105317400-105320000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:105317400-105320200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr7:105317600-105320000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr7:105317600-105320000	Flanking Active TSS	Dnd41	blood
26	chr7:105317600-105320200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:105317800-105319600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:105317800-105319600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr7:105317800-105319800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr7:105317800-105320000	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr7:105317800-105320000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr7:105317800-105320000	Enhancers	Fetal Heart	heart
33	chr7:105317800-105320000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr7:105317800-105320200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:105317800-105321000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:105317800-105322800	Weak transcription	Brain Germinal Matrix	brain
37	chr7:105317800-105331400	Weak transcription	Fetal Intestine Large	intestine
38	chr7:105318000-105319800	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr7:105318000-105319800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr7:105318000-105319800	Flanking Active TSS	GM12878-XiMat	blood
41	chr7:105318000-105320000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr7:105318000-105320000	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr7:105318000-105320000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr7:105318000-105320000	Active TSS	Rectal Smooth Muscle	rectum
45	chr7:105318000-105327000	Weak transcription	Fetal Brain Female	brain
46	chr7:105318200-105319600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:105318200-105319600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr7:105318200-105319800	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr7:105318200-105319800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr7:105318200-105321400	Enhancers	Fetal Muscle Leg	muscle

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