Variant report

Variant	rs182422019
Chromosome Location	chr7:106684686-106684687
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	IRF1	chr7:106684529-106685199	K562	blood:	n/a	chr7:106684780-106684787 chr7:106684622-106684636
2	ETS1	chr7:106684677-106685623	K562	blood:	n/a	n/a
3	SIN3AK20	chr7:106684675-106685150	K562	blood:	n/a	n/a
4	HCFC1	chr7:106684670-106685604	K562	blood:	n/a	n/a
5	MAX	chr7:106684671-106685207	SK-N-SH	brain:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
6	MAZ	chr7:106684395-106685532	IMR90	lung:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
7	RCOR1	chr7:106684567-106685542	K562	blood:	n/a	n/a
8	POLR2A	chr7:106684557-106685175	SK-N-MC	brain:	n/a	n/a
9	TAF1	chr7:106684655-106684994	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr7:106684445-106686220	H1-neurons	neurons:	n/a	n/a
11	MAX	chr7:106684598-106685713	A549	lung:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
12	USF1	chr7:106684629-106685253	HCT-116	colon:	n/a	chr7:106685009-106685020
13	POLR2A	chr7:106684679-106685542	K562	blood:	n/a	n/a
14	MAX	chr7:106684653-106685225	H1-hESC	embryonic stem cell:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
15	CTBP2	chr7:106684634-106685410	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F6	chr7:106684656-106685074	H1-hESC	embryonic stem cell:	n/a	chr7:106685014-106685028 chr7:106684973-106684983
17	CBX3	chr7:106684434-106685168	K562	blood:	n/a	n/a
18	YY1	chr7:106684635-106685653	SK-N-SH_RA	brain:	n/a	chr7:106685501-106685521 chr7:106684933-106684947 chr7:106685274-106685285 chr7:106685312-106685326 chr7:106685318-106685327
19	NRF1	chr7:106684325-106686054	SK-N-SH	brain:	n/a	chr7:106685248-106685262
20	MAX	chr7:106684684-106685216	K562	blood:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
21	RCOR1	chr7:106684657-106685548	K562	blood:	n/a	n/a
22	TAF1	chr7:106684571-106685616	H1-neurons	neurons:	n/a	n/a
23	ZBTB7A	chr7:106684643-106685150	ECC-1	luminal epithelium:	n/a	n/a
24	USF1	chr7:106684647-106685178	K562	blood:	n/a	chr7:106685009-106685020
25	TAF1	chr7:106684652-106685499	H1-hESC	embryonic stem cell:	n/a	n/a
26	EGR1	chr7:106684672-106685959	K562	blood:	n/a	chr7:106685310-106685323 chr7:106685304-106685317 chr7:106685798-106685811 chr7:106685797-106685812 chr7:106685057-106685071
27	SIN3AK20	chr7:106684652-106685137	H1-hESC	embryonic stem cell:	n/a	n/a
28	TBL1XR1	chr7:106684626-106685303	K562	blood:	n/a	n/a
29	MAX	chr7:106684613-106686065	SK-N-SH	brain:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
30	POLR2A	chr7:106684574-106685422	PBDE	blood:	n/a	n/a
31	PML	chr7:106684462-106685338	K562	blood:	n/a	n/a
32	MAX	chr7:106684656-106685213	H1-hESC	embryonic stem cell:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
33	USF1	chr7:106684533-106685194	K562	blood:	n/a	chr7:106685009-106685020
34	E2F6	chr7:106684587-106685117	A549	lung:	n/a	chr7:106685014-106685028 chr7:106684973-106684983
35	POLR2A	chr7:106684671-106686070	K562	blood:	n/a	n/a
36	CCNT2	chr7:106684685-106685697	K562	blood:	n/a	n/a
37	USF1	chr7:106684664-106685259	ECC-1	luminal epithelium:	n/a	chr7:106685009-106685020
38	ZC3H11A	chr7:106684678-106685090	K562	blood:	n/a	n/a
39	MAX	chr7:106684632-106686132	K562	blood:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
40	USF1	chr7:106684517-106685179	SK-N-SH	brain:	n/a	chr7:106685009-106685020
41	MAX	chr7:106684616-106685693	MCF-7	breast:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
42	EGR1	chr7:106684588-106685349	HCT-116	colon:	n/a	chr7:106685310-106685323 chr7:106685304-106685317 chr7:106685057-106685071
43	HDAC2	chr7:106684674-106685493	K562	blood:	n/a	n/a
44	MAX	chr7:106684540-106685228	HCT-116	colon:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
45	POLR2A	chr7:106684360-106686151	H1-neurons	neurons:	n/a	n/a
46	SIN3AK20	chr7:106684626-106686340	K562	blood:	n/a	n/a
47	POLR2A	chr7:106684610-106685488	HUVEC	blood vessel:	n/a	n/a
48	MAX	chr7:106684558-106685597	HCT-116	colon:	n/a	chr7:106684992-106685001 chr7:106685011-106685020 chr7:106685010-106685021 chr7:106685013-106685022
49	TBL1XR1	chr7:106684621-106685306	K562	blood:	n/a	n/a
50	HA-E2F1	chr7:106684542-106685899	MCF-7	breast:	n/a	chr7:106685014-106685028 chr7:106685678-106685690 chr7:106685333-106685343 chr7:106684973-106684983

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
ENSG00000105856	Chromatin interaction
ENSG00000228742	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:119 , 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	chr7:106684400-106684800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
5	chr7:106684400-106684800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:106684400-106684800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:106684400-106684800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:106684400-106684800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr7:106684400-106684800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
10	chr7:106684400-106684800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
11	chr7:106684400-106684800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
12	chr7:106684400-106684800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:106684400-106684800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr7:106684400-106684800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
15	chr7:106684400-106684800	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr7:106684400-106684800	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr7:106684400-106684800	Flanking Active TSS	NH-A	brain
18	chr7:106684400-106685000	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr7:106684400-106685000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr7:106684400-106685000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:106684400-106685000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr7:106684400-106685000	Flanking Active TSS	Fetal Brain Female	brain
23	chr7:106684400-106685000	Active TSS	Right Atrium	heart
24	chr7:106684400-106685000	Flanking Bivalent TSS/Enh	Dnd41	blood
25	chr7:106684400-106685000	Flanking Active TSS	HUVEC	blood vessel
26	chr7:106684400-106685400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:106684400-106685400	Active TSS	Muscle Satellite Cultured Cells	--
28	chr7:106684400-106685400	Active TSS	Fetal Muscle Leg	muscle
29	chr7:106684400-106685400	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr7:106684400-106685600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:106684400-106685600	Active TSS	A549	lung
32	chr7:106684400-106685800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:106684400-106685800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:106684400-106685800	Active TSS	Colon Smooth Muscle	Colon
35	chr7:106684400-106685800	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr7:106684400-106686000	Active TSS	Brain Hippocampus Middle	brain
37	chr7:106684400-106686000	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr7:106684400-106686000	Active TSS	Fetal Lung	lung
39	chr7:106684400-106686200	Active TSS	NHDF-Ad	bronchial
40	chr7:106684400-106686400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:106684400-106686400	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr7:106684400-106686400	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr7:106684400-106686400	Active TSS	NHLF	lung
44	chr7:106684400-106686600	Active TSS	Brain Substantia Nigra	brain
45	chr7:106684400-106686800	Active TSS	Rectal Smooth Muscle	rectum
46	chr7:106684400-106687000	Active TSS	Brain Anterior Caudate	brain
47	chr7:106684400-106687000	Active TSS	Fetal Stomach	stomach
48	chr7:106684400-106687200	Active TSS	Ovary	ovary
49	chr7:106684400-106688400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:106684600-106684800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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