Variant report

Variant	rs559514855
Chromosome Location	chr7:106685039-106685040
allele	A/C
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	CTCF	chr7:106684976-106685090	Lung_OC	lung:	n/a	chr7:106684976-106684989
4	ZNF263	chr7:106684780-106686238	HEK293-T-REx	kidney:	n/a	n/a
5	ETS1	chr7:106684677-106685623	K562	blood:	n/a	n/a
6	MXI1	chr7:106684790-106685180	HepG2	liver:	n/a	chr7:106684881-106684890 chr7:106685010-106685019 chr7:106684992-106685007
7	MAX	chr7:106684700-106685195	K562	blood:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
8	CTCF	chr7:106685035-106685089	Pancreas_OC	pancreas:	n/a	n/a
9	ZBTB7A	chr7:106684721-106685988	K562	blood:	n/a	chr7:106685308-106685317
10	CTCF	chr7:106684920-106685070	GM12865	blood:	n/a	chr7:106684976-106684989
11	POLR2A	chr7:106684847-106685432	A549	lung:	n/a	n/a
12	CTCF	chr7:106684940-106685090	GM12869	blood:	n/a	chr7:106684976-106684989
13	SIN3AK20	chr7:106684675-106685150	K562	blood:	n/a	n/a
14	POLR2A	chr7:106685039-106685329	A549	lung:	n/a	n/a
15	RAD21	chr7:106684731-106685255	SK-N-SH_RA	brain:	n/a	chr7:106684942-106684955
16	POLR2A	chr7:106684854-106685269	ProgFib	skin:	n/a	n/a
17	MAZ	chr7:106684838-106685229	HepG2	liver:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
18	HCFC1	chr7:106684670-106685604	K562	blood:	n/a	n/a
19	CTCF	chr7:106684960-106685110	AG04449	skin:	n/a	chr7:106684976-106684989
20	THAP1	chr7:106684698-106685204	K562	blood:	n/a	n/a
21	POLR2A	chr7:106685033-106685282	A549	lung:	n/a	n/a
22	MXI1	chr7:106684781-106685156	K562	blood:	n/a	chr7:106684881-106684890 chr7:106685010-106685019 chr7:106684992-106685007
23	HMGN3	chr7:106684724-106685873	K562	blood:	n/a	n/a
24	MAX	chr7:106684779-106685188	HUVEC	blood vessel:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
25	CTCF	chr7:106684864-106685171	Spleen_OC	spleen:	n/a	chr7:106685133-106685146 chr7:106684976-106684989
26	MAX	chr7:106684671-106685207	SK-N-SH	brain:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
27	YY1	chr7:106684694-106685355	HepG2	liver:	n/a	chr7:106684933-106684947 chr7:106685274-106685285 chr7:106685312-106685326 chr7:106685318-106685327
28	MAZ	chr7:106684395-106685532	IMR90	lung:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
29	USF1	chr7:106684701-106685244	SK-N-SH	brain:	n/a	chr7:106685009-106685020
30	USF1	chr7:106684704-106685145	A549	lung:	n/a	chr7:106685009-106685020
31	POLR2A	chr7:106685039-106685272	A549	lung:	n/a	n/a
32	RCOR1	chr7:106684567-106685542	K562	blood:	n/a	n/a
33	USF1	chr7:106684738-106685151	A549	lung:	n/a	chr7:106685009-106685020
34	POLR2A	chr7:106684557-106685175	SK-N-MC	brain:	n/a	n/a
35	MAZ	chr7:106684918-106685194	Hela-S3	cervix:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
36	JUND	chr7:106684842-106685169	H1-hESC	embryonic stem cell:	n/a	n/a
37	JUND	chr7:106684832-106685459	A549	lung:	n/a	n/a
38	POLR2A	chr7:106684900-106685424	Gliobla	brain:	n/a	n/a
39	MXI1	chr7:106684778-106685422	H1-hESC	embryonic stem cell:	n/a	chr7:106684881-106684890 chr7:106685010-106685019 chr7:106684992-106685007
40	CTCF	chr7:106684940-106685090	GM12871	blood:	n/a	chr7:106684976-106684989
41	REST	chr7:106684907-106685146	K562	blood:	n/a	n/a
42	CTCF	chr7:106684939-106685082	GM10266	blood:	n/a	chr7:106684976-106684989
43	MAX	chr7:106684834-106685136	HepG2	liver:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
44	EP300	chr7:106684733-106685198	SK-N-SH_RA	brain:	n/a	chr7:106684929-106684945
45	TBP	chr7:106684833-106685484	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr7:106684720-106685371	K562	blood:	n/a	n/a
47	POLR2A	chr7:106684445-106686220	H1-neurons	neurons:	n/a	n/a
48	MAX	chr7:106684713-106685181	A549	lung:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
49	TAF1	chr7:106684918-106685230	PFSK-1	brain:	n/a	n/a
50	MAX	chr7:106684598-106685713	A549	lung:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:106685021-106685071	HNPCEpiC	eye:	n/a
2	chr7:106685023-106685073	U87	brain:	n/a
3	chr7:106685021-106685071	GM06990	blood:	n/a
4	chr7:106685015-106685065	Jurkat	blood:	n/a
5	chr7:106685033-106685083	HNPCEpiC	eye:	n/a
6	chr7:106685021-106685071	RPTEC	kidney:	n/a
7	chr7:106685033-106685083	HCM	heart:	n/a
8	chr7:106685023-106685073	GM06990	blood:	n/a
9	chr7:106685023-106685073	HAEpiC	amniotic membrane:	n/a
10	chr7:106685021-106685071	HAEpiC	amniotic membrane:	n/a
11	chr7:106685021-106685071	PFSK-1	brain:	n/a
12	chr7:106685015-106685065	T-47D	breast:	n/a
13	chr7:106685033-106685083	SK-N-SH	brain:	n/a
14	chr7:106685015-106685065	AG09319	gingival:	n/a
15	chr7:106685023-106685073	NHDF-neo	bronchial:	n/a
16	chr7:106685021-106685071	AG04450	lung:	fetal
17	chr7:106685021-106685071	SK-N-SH	brain:	n/a
18	chr7:106685021-106685071	SAEC	small airway:	n/a
19	chr7:106685023-106685073	HCPEpiC	choroid plexus:	n/a
20	chr7:106685015-106685065	GM12891	blood:	n/a
21	chr7:106685015-106685065	AG04450	lung:	fetal
22	chr7:106685015-106685065	SK-N-SH_RA	brain:	n/a
23	chr7:106685033-106685083	AG04449	skin:	fetal
24	chr7:106685021-106685071	Caco-2	colon:	n/a
25	chr7:106685033-106685083	RPTEC	kidney:	n/a
26	chr7:106685033-106685083	HAEpiC	amniotic membrane:	n/a
27	chr7:106685021-106685071	AoSMC	blood vessel:	n/a
28	chr7:106685023-106685073	HUVEC	blood vessel:	n/a
29	chr7:106685023-106685073	AG09319	gingival:	n/a
30	chr7:106685023-106685073	Hepatocyte	liver:	n/a
31	chr7:106685021-106685071	U87	brain:	n/a
32	chr7:106685033-106685083	LNCaP	prostate:	n/a
33	chr7:106685023-106685073	SK-N-SH	brain:	n/a
34	chr7:106685033-106685083	SKMC	muscle:	n/a
35	chr7:106685023-106685073	NT2-D1	testis:	n/a
36	chr7:106685023-106685073	HRCEpiC	kidney:	n/a
37	chr7:106685015-106685065	IMR90	lung:	fetal
38	chr7:106685023-106685073	SKMC	muscle:	n/a
39	chr7:106685023-106685073	HEEpiC	esophagus:	n/a
40	chr7:106685021-106685071	HRCEpiC	kidney:	n/a
41	chr7:106685021-106685071	PrEC	prostate:	n/a
42	chr7:106685021-106685071	HRPEpiC	eye:	n/a
43	chr7:106685023-106685073	HRPEpiC	eye:	n/a
44	chr7:106685015-106685065	HCM	heart:	n/a
45	chr7:106685033-106685083	ECC-1	luminal epithelium:	n/a
46	chr7:106685015-106685065	K562	blood:	n/a
47	chr7:106685033-106685083	HPAEpiC	pulmonary alveolar:	n/a
48	chr7:106685023-106685073	HepG2	liver:	n/a
49	chr7:106685015-106685065	A549	lung:	n/a
50	chr7:106685023-106685073	BJ	skin:	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106684200-106686400	Active TSS	Stomach Smooth Muscle	stomach
2	chr7:106684400-106685400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:106684400-106685400	Active TSS	Muscle Satellite Cultured Cells	--
4	chr7:106684400-106685400	Active TSS	Fetal Muscle Leg	muscle
5	chr7:106684400-106685400	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr7:106684400-106685600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:106684400-106685600	Active TSS	A549	lung
8	chr7:106684400-106685800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:106684400-106685800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:106684400-106685800	Active TSS	Colon Smooth Muscle	Colon
11	chr7:106684400-106685800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr7:106684400-106686000	Active TSS	Brain Hippocampus Middle	brain
13	chr7:106684400-106686000	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr7:106684400-106686000	Active TSS	Fetal Lung	lung
15	chr7:106684400-106686200	Active TSS	NHDF-Ad	bronchial
16	chr7:106684400-106686400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:106684400-106686400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr7:106684400-106686400	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr7:106684400-106686400	Active TSS	NHLF	lung
20	chr7:106684400-106686600	Active TSS	Brain Substantia Nigra	brain
21	chr7:106684400-106686800	Active TSS	Rectal Smooth Muscle	rectum
22	chr7:106684400-106687000	Active TSS	Brain Anterior Caudate	brain
23	chr7:106684400-106687000	Active TSS	Fetal Stomach	stomach
24	chr7:106684400-106687200	Active TSS	Ovary	ovary
25	chr7:106684400-106688400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:106684600-106685400	Active TSS	Primary B cells from peripheral blood	blood
27	chr7:106684600-106685400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:106684600-106685400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:106684600-106685400	Active TSS	Colonic Mucosa	Colon
30	chr7:106684600-106685400	Active TSS	Duodenum Mucosa	Duodenum
31	chr7:106684600-106685400	Active TSS	Fetal Intestine Large	intestine
32	chr7:106684600-106685400	Active TSS	Fetal Intestine Small	intestine
33	chr7:106684600-106685400	Active TSS	Fetal Muscle Trunk	muscle
34	chr7:106684600-106685400	Active TSS	Fetal Thymus	thymus
35	chr7:106684600-106685400	Active TSS	Thymus	Thymus
36	chr7:106684600-106685400	Bivalent/Poised TSS	HMEC	breast
37	chr7:106684600-106685600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:106684600-106685600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:106684600-106685600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:106684600-106685600	Active TSS	Placenta	Placenta
41	chr7:106684600-106685800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:106684600-106685800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:106684600-106685800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:106684600-106685800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr7:106684600-106685800	Active TSS	Esophagus	oesophagus
46	chr7:106684600-106685800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr7:106684600-106685800	Active TSS	Gastric	stomach
48	chr7:106684600-106685800	Active TSS	Lung	lung
49	chr7:106684600-106685800	Active TSS	Psoas Muscle	Psoas
50	chr7:106684600-106685800	Active TSS	HSMM	muscle

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