Variant report

Variant	rs564160525
Chromosome Location	chr7:106684575-106684576
allele	A/G/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	IRF1	chr7:106684529-106685199	K562	blood:	n/a	chr7:106684780-106684787 chr7:106684622-106684636
2	MAZ	chr7:106684395-106685532	IMR90	lung:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
3	RCOR1	chr7:106684567-106685542	K562	blood:	n/a	n/a
4	POLR2A	chr7:106684557-106685175	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr7:106684445-106686220	H1-neurons	neurons:	n/a	n/a
6	CBX3	chr7:106684434-106685168	K562	blood:	n/a	n/a
7	NRF1	chr7:106684325-106686054	SK-N-SH	brain:	n/a	chr7:106685248-106685262
8	TAF1	chr7:106684571-106685616	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr7:106684574-106685422	PBDE	blood:	n/a	n/a
10	PML	chr7:106684462-106685338	K562	blood:	n/a	n/a
11	USF1	chr7:106684533-106685194	K562	blood:	n/a	chr7:106685009-106685020
12	USF1	chr7:106684517-106685179	SK-N-SH	brain:	n/a	chr7:106685009-106685020
13	MAX	chr7:106684540-106685228	HCT-116	colon:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
14	POLR2A	chr7:106684360-106686151	H1-neurons	neurons:	n/a	n/a
15	MAX	chr7:106684558-106685597	HCT-116	colon:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
16	HA-E2F1	chr7:106684542-106685899	MCF-7	breast:	n/a	chr7:106685014-106685028 chr7:106685678-106685690 chr7:106685333-106685343 chr7:106684973-106684983
17	SIN3A	chr7:106684567-106686044	H1-hESC	embryonic stem cell:	n/a	chr7:106685012-106685021 chr7:106685010-106685019
18	ZMIZ1	chr7:106684516-106685504	K562	blood:	n/a	n/a
19	REST	chr7:106684185-106687068	H1-neurons	neurons:	n/a	chr7:106685712-106685730 chr7:106685712-106685722
20	MXI1	chr7:106683820-106687315	SK-N-SH	brain:	n/a	chr7:106684881-106684890 chr7:106685010-106685019 chr7:106684992-106685007
21	USF1	chr7:106684513-106685143	H1-hESC	embryonic stem cell:	n/a	chr7:106685009-106685020
22	GTF2F1	chr7:106684525-106685591	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:106684541-106684591	HAEpiC	amniotic membrane:	n/a
2	chr7:106684541-106684591	NB4	blood:	n/a
3	chr7:106684541-106684591	HRPEpiC	eye:	n/a
4	chr7:106684541-106684591	A549	lung:	n/a
5	chr7:106684541-106684591	GM12892	blood:	n/a
6	chr7:106684541-106684591	HNPCEpiC	eye:	n/a
7	chr7:106684541-106684591	NH-A	brain:	n/a
8	chr7:106684541-106684591	GM12891	blood:	n/a
9	chr7:106684541-106684591	HRCEpiC	kidney:	n/a
10	chr7:106684541-106684591	CMK	blood:	n/a
11	chr7:106684541-106684591	NHBE	bronchial:	n/a
12	chr7:106684541-106684591	GM19239	blood:	n/a
13	chr7:106684541-106684591	AG10803	skin:	n/a
14	chr7:106684541-106684591	PFSK-1	brain:	n/a
15	chr7:106684541-106684591	HCPEpiC	choroid plexus:	n/a
16	chr7:106684541-106684591	HEK293	kidney:	embryo
17	chr7:106684541-106684591	NT2-D1	testis:	n/a
18	chr7:106684541-106684591	HIPEpiC	eye:	n/a
19	chr7:106684541-106684591	MCF10A-Er-Src	breast:	n/a
20	chr7:106684541-106684591	AoSMC	blood vessel:	n/a
21	chr7:106684541-106684591	HMEC	breast:	n/a
22	chr7:106684541-106684591	BE2_C	brain:	n/a
23	chr7:106684541-106684591	HCM	heart:	n/a
24	chr7:106684541-106684591	MCF-7	breast:	n/a
25	chr7:106684541-106684591	ProgFib	skin:	n/a
26	chr7:106684541-106684591	HUVEC	blood vessel:	n/a
27	chr7:106684541-106684591	ECC-1	luminal epithelium:	n/a
28	chr7:106684541-106684591	SAEC	small airway:	n/a
29	chr7:106684541-106684591	HPAEpiC	pulmonary alveolar:	n/a
30	chr7:106684541-106684591	HEEpiC	esophagus:	n/a
31	chr7:106684541-106684591	HCF	heart:	n/a
32	chr7:106684541-106684591	PrEC	prostate:	n/a
33	chr7:106684541-106684591	AG04449	skin:	fetal
34	chr7:106684541-106684591	LNCaP	prostate:	n/a
35	chr7:106684541-106684591	BJ	skin:	n/a
36	chr7:106684541-106684591	Caco-2	colon:	n/a
37	chr7:106684541-106684591	AG04450	lung:	fetal
38	chr7:106684541-106684591	AG09309	skin:	n/a
39	chr7:106684541-106684591	AG09319	gingival:	n/a
40	chr7:106684541-106684591	HRE	kidney:	n/a
41	chr7:106684541-106684591	SK-N-SH	brain:	n/a
42	chr7:106684541-106684591	Jurkat	blood:	n/a
43	chr7:106684541-106684591	HL-60	blood:	n/a
44	chr7:106684541-106684591	GM06990	blood:	n/a
45	chr7:106684541-106684591	SK-N-MC	brain:	n/a
46	chr7:106684541-106684591	Hepatocyte	liver:	n/a
47	chr7:106684541-106684591	SK-N-SH_RA	brain:	n/a
48	chr7:106684541-106684591	U87	brain:	n/a
49	chr7:106684541-106684591	T-47D	breast:	n/a
50	chr7:106684541-106684591	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:106682031..106689663-chr7:106807150..106811711,11	K562	blood:
2	chr7:106682746..106686911-chr7:106807556..106811745,9	K562	blood:
3	chr7:106683838..106685682-chr7:106808625..106810626,2	MCF-7	breast:
4	chr7:106415431..106417500-chr7:106684365..106686505,2	K562	blood:

Variant related genes	Relation type
PRKAR2B	TF binding region
PRKAR2B	CpG island
ENSG00000228742	Chromatin interaction
ENSG00000105856	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	nsv831087	chr7:106673465-106872460	Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3440198	chr7:106684366-106686514	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106677000-106684600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:106682400-106684600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr7:106683200-106684600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:106684000-106685000	Flanking Active TSS	K562	blood
5	chr7:106684200-106684600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:106684200-106685000	Flanking Active TSS	Fetal Brain Male	brain
7	chr7:106684200-106686400	Active TSS	Stomach Smooth Muscle	stomach
8	chr7:106684400-106684600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr7:106684400-106684600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:106684400-106684600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr7:106684400-106684600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr7:106684400-106684600	Enhancers	Primary B cells from cord blood	blood
13	chr7:106684400-106684600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr7:106684400-106684600	Enhancers	Primary hematopoietic stem cells	blood
15	chr7:106684400-106684600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:106684400-106684600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr7:106684400-106684600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:106684400-106684600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:106684400-106684600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr7:106684400-106684600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:106684400-106684600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:106684400-106684600	Enhancers	Liver	Liver
23	chr7:106684400-106684600	Active TSS	Brain Germinal Matrix	brain
24	chr7:106684400-106684600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr7:106684400-106684600	Flanking Active TSS	Fetal Kidney	kidney
26	chr7:106684400-106684600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr7:106684400-106684600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:106684400-106684600	Active TSS	Monocytes-CD14+_RO01746	blood
29	chr7:106684400-106684800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
30	chr7:106684400-106684800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:106684400-106684800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:106684400-106684800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:106684400-106684800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr7:106684400-106684800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
35	chr7:106684400-106684800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
36	chr7:106684400-106684800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr7:106684400-106684800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:106684400-106684800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr7:106684400-106684800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
40	chr7:106684400-106684800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr7:106684400-106684800	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr7:106684400-106684800	Flanking Active TSS	NH-A	brain
43	chr7:106684400-106685000	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr7:106684400-106685000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr7:106684400-106685000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:106684400-106685000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr7:106684400-106685000	Flanking Active TSS	Fetal Brain Female	brain
48	chr7:106684400-106685000	Active TSS	Right Atrium	heart
49	chr7:106684400-106685000	Flanking Bivalent TSS/Enh	Dnd41	blood
50	chr7:106684400-106685000	Flanking Active TSS	HUVEC	blood vessel

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