Variant report

Variant	rs576491854
Chromosome Location	chr7:106684966-106684967
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	TCF7L2	chr7:106684815-106685629	HCT-116	colon:	n/a	n/a
2	IRF1	chr7:106684529-106685199	K562	blood:	n/a	chr7:106684780-106684787 chr7:106684622-106684636
3	ZNF263	chr7:106684780-106686238	HEK293-T-REx	kidney:	n/a	n/a
4	ETS1	chr7:106684677-106685623	K562	blood:	n/a	n/a
5	MXI1	chr7:106684790-106685180	HepG2	liver:	n/a	chr7:106684881-106684890 chr7:106685010-106685019 chr7:106684992-106685007
6	MAX	chr7:106684700-106685195	K562	blood:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
7	ZBTB7A	chr7:106684721-106685988	K562	blood:	n/a	chr7:106685308-106685317
8	CTCF	chr7:106684920-106685070	GM12865	blood:	n/a	chr7:106684976-106684989
9	POLR2A	chr7:106684847-106685432	A549	lung:	n/a	n/a
10	CTCF	chr7:106684940-106685090	GM12869	blood:	n/a	chr7:106684976-106684989
11	SIN3AK20	chr7:106684675-106685150	K562	blood:	n/a	n/a
12	RAD21	chr7:106684731-106685255	SK-N-SH_RA	brain:	n/a	chr7:106684942-106684955
13	POLR2A	chr7:106684854-106685269	ProgFib	skin:	n/a	n/a
14	MAZ	chr7:106684838-106685229	HepG2	liver:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
15	HCFC1	chr7:106684670-106685604	K562	blood:	n/a	n/a
16	CTCF	chr7:106684960-106685110	AG04449	skin:	n/a	chr7:106684976-106684989
17	THAP1	chr7:106684698-106685204	K562	blood:	n/a	n/a
18	MXI1	chr7:106684781-106685156	K562	blood:	n/a	chr7:106684881-106684890 chr7:106685010-106685019 chr7:106684992-106685007
19	HMGN3	chr7:106684724-106685873	K562	blood:	n/a	n/a
20	MAX	chr7:106684779-106685188	HUVEC	blood vessel:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
21	CTCF	chr7:106684864-106685171	Spleen_OC	spleen:	n/a	chr7:106685133-106685146 chr7:106684976-106684989
22	MAX	chr7:106684671-106685207	SK-N-SH	brain:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
23	YY1	chr7:106684694-106685355	HepG2	liver:	n/a	chr7:106684933-106684947 chr7:106685274-106685285 chr7:106685312-106685326 chr7:106685318-106685327
24	MAZ	chr7:106684395-106685532	IMR90	lung:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
25	USF1	chr7:106684701-106685244	SK-N-SH	brain:	n/a	chr7:106685009-106685020
26	USF1	chr7:106684704-106685145	A549	lung:	n/a	chr7:106685009-106685020
27	RCOR1	chr7:106684567-106685542	K562	blood:	n/a	n/a
28	USF1	chr7:106684738-106685151	A549	lung:	n/a	chr7:106685009-106685020
29	POLR2A	chr7:106684557-106685175	SK-N-MC	brain:	n/a	n/a
30	MAZ	chr7:106684918-106685194	Hela-S3	cervix:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
31	JUND	chr7:106684842-106685169	H1-hESC	embryonic stem cell:	n/a	n/a
32	JUND	chr7:106684832-106685459	A549	lung:	n/a	n/a
33	POLR2A	chr7:106684900-106685424	Gliobla	brain:	n/a	n/a
34	MXI1	chr7:106684778-106685422	H1-hESC	embryonic stem cell:	n/a	chr7:106684881-106684890 chr7:106685010-106685019 chr7:106684992-106685007
35	CTCF	chr7:106684940-106685090	GM12871	blood:	n/a	chr7:106684976-106684989
36	CTCF	chr7:106684880-106685030	WERI-Rb-1	eye:	n/a	chr7:106684976-106684989
37	REST	chr7:106684907-106685146	K562	blood:	n/a	n/a
38	CTCF	chr7:106684939-106685082	GM10266	blood:	n/a	chr7:106684976-106684989
39	MAX	chr7:106684834-106685136	HepG2	liver:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
40	EP300	chr7:106684733-106685198	SK-N-SH_RA	brain:	n/a	chr7:106684929-106684945
41	TAF1	chr7:106684655-106684994	H1-neurons	neurons:	n/a	n/a
42	TBP	chr7:106684833-106685484	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr7:106684720-106685371	K562	blood:	n/a	n/a
44	POLR2A	chr7:106684445-106686220	H1-neurons	neurons:	n/a	n/a
45	MAX	chr7:106684713-106685181	A549	lung:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
46	TAF1	chr7:106684918-106685230	PFSK-1	brain:	n/a	n/a
47	SIN3AK20	chr7:106684850-106685021	HepG2	liver:	n/a	n/a
48	MAX	chr7:106684598-106685713	A549	lung:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
49	ELF1	chr7:106684719-106685649	K562	blood:	n/a	n/a
50	USF1	chr7:106684779-106685158	H1-hESC	embryonic stem cell:	n/a	chr7:106685009-106685020

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
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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106684000-106685000	Flanking Active TSS	K562	blood
2	chr7:106684200-106685000	Flanking Active TSS	Fetal Brain Male	brain
3	chr7:106684200-106686400	Active TSS	Stomach Smooth Muscle	stomach
4	chr7:106684400-106685000	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr7:106684400-106685000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr7:106684400-106685000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:106684400-106685000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr7:106684400-106685000	Flanking Active TSS	Fetal Brain Female	brain
9	chr7:106684400-106685000	Active TSS	Right Atrium	heart
10	chr7:106684400-106685000	Flanking Bivalent TSS/Enh	Dnd41	blood
11	chr7:106684400-106685000	Flanking Active TSS	HUVEC	blood vessel
12	chr7:106684400-106685400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:106684400-106685400	Active TSS	Muscle Satellite Cultured Cells	--
14	chr7:106684400-106685400	Active TSS	Fetal Muscle Leg	muscle
15	chr7:106684400-106685400	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr7:106684400-106685600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:106684400-106685600	Active TSS	A549	lung
18	chr7:106684400-106685800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:106684400-106685800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:106684400-106685800	Active TSS	Colon Smooth Muscle	Colon
21	chr7:106684400-106685800	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr7:106684400-106686000	Active TSS	Brain Hippocampus Middle	brain
23	chr7:106684400-106686000	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr7:106684400-106686000	Active TSS	Fetal Lung	lung
25	chr7:106684400-106686200	Active TSS	NHDF-Ad	bronchial
26	chr7:106684400-106686400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:106684400-106686400	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr7:106684400-106686400	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr7:106684400-106686400	Active TSS	NHLF	lung
30	chr7:106684400-106686600	Active TSS	Brain Substantia Nigra	brain
31	chr7:106684400-106686800	Active TSS	Rectal Smooth Muscle	rectum
32	chr7:106684400-106687000	Active TSS	Brain Anterior Caudate	brain
33	chr7:106684400-106687000	Active TSS	Fetal Stomach	stomach
34	chr7:106684400-106687200	Active TSS	Ovary	ovary
35	chr7:106684400-106688400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:106684600-106685000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
37	chr7:106684600-106685000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:106684600-106685000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
39	chr7:106684600-106685000	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr7:106684600-106685000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr7:106684600-106685000	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr7:106684600-106685000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr7:106684600-106685000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:106684600-106685000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:106684600-106685000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:106684600-106685000	Flanking Active TSS	Liver	Liver
47	chr7:106684600-106685000	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
48	chr7:106684600-106685000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr7:106684600-106685400	Active TSS	Primary B cells from peripheral blood	blood
50	chr7:106684600-106685400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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