Variant report

Variant	rs575340394
Chromosome Location	chr7:126987861-126987862
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:321)
CpG islands
(count:61)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:126987637-126988287	MCF-7	breast:	n/a	n/a
2	BRCA1	chr7:126987644-126987923	HepG2	liver:	n/a	n/a
3	RAD21	chr7:126987686-126988366	IMR90	lung:	n/a	n/a
4	SIN3AK20	chr7:126987786-126988188	PANC-1	pancreas:	n/a	n/a
5	MYC	chr7:126987789-126988009	K562	blood:	n/a	n/a
6	CTCF	chr7:126987820-126987970	HFF-Myc	foreskin:	n/a	n/a
7	THAP1	chr7:126987731-126988261	K562	blood:	n/a	n/a
8	CTCF	chr7:126987611-126988315	A549	lung:	n/a	n/a
9	SIN3AK20	chr7:126987750-126988341	SK-N-SH	brain:	n/a	n/a
10	TCF3	chr7:126987691-126988147	GM12878	blood:	n/a	n/a
11	CTCF	chr7:126987713-126988093	Pancreas_OC	pancreas:	n/a	n/a
12	CTCF	chr7:126987740-126987890	HEK293	kidney:	n/a	n/a
13	CTCF	chr7:126987820-126987970	HRPEpiC	eye:	n/a	n/a
14	POLR2A	chr7:126987677-126988118	HUVEC	blood vessel:	n/a	n/a
15	YY1	chr7:126987689-126988093	GM12892	blood:	n/a	n/a
16	CTCF	chr7:126987800-126987950	HEEpiC	esophagus:	n/a	n/a
17	CTCF	chr7:126987840-126987990	HA-sp	spinal cord:	n/a	n/a
18	CTCF	chr7:126987780-126987930	AG10803	skin:	n/a	n/a
19	CTCF	chr7:126987787-126988025	HepG2	liver:	n/a	n/a
20	E2F6	chr7:126987575-126988289	K562	blood:	n/a	n/a
21	CTCF	chr7:126987800-126987950	NB4	blood:	n/a	n/a
22	USF1	chr7:126987450-126987902	H1-hESC	embryonic stem cell:	n/a	n/a
23	RCOR1	chr7:126987656-126988094	HepG2	liver:	n/a	n/a
24	MXI1	chr7:126987628-126988764	IMR90	lung:	n/a	n/a
25	RAD21	chr7:126987532-126988131	H1-hESC	embryonic stem cell:	n/a	n/a
26	SMC3	chr7:126987637-126988318	K562	blood:	n/a	n/a
27	RAD21	chr7:126987634-126988016	HepG2	liver:	n/a	n/a
28	RAD21	chr7:126987501-126988625	SK-N-SH	brain:	n/a	n/a
29	CTCF	chr7:126987632-126988050	Medullo	brain:	n/a	n/a
30	CTCF	chr7:126987860-126988010	GM12868	blood:	n/a	n/a
31	CTCF	chr7:126987840-126987990	HAc	cerebellar:	n/a	n/a
32	CTCF	chr7:126987800-126987950	GM12878	blood:	n/a	n/a
33	RAD21	chr7:126987554-126988316	H1-hESC	embryonic stem cell:	n/a	n/a
34	RAD21	chr7:126987740-126988034	A549	lung:	n/a	n/a
35	CTCF	chr7:126987820-126987970	MCF-7	breast:	n/a	n/a
36	CTCF	chr7:126987735-126988080	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr7:126987524-126988415	SK-N-SH	brain:	n/a	n/a
38	CTCF	chr7:126987780-126987930	GM12801	blood:	n/a	n/a
39	TBL1XR1	chr7:126987595-126987935	K562	blood:	n/a	n/a
40	CREB1	chr7:126987748-126988232	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr7:126987780-126987930	HMF	breast:	n/a	n/a
42	MXI1	chr7:126987369-126989289	SK-N-SH	brain:	n/a	n/a
43	CTCF	chr7:126987760-126987910	HEEpiC	esophagus:	n/a	n/a
44	POLR2A	chr7:126987571-126988435	MCF-7	breast:	n/a	n/a
45	CTCF	chr7:126987780-126987930	GM12864	blood:	n/a	n/a
46	CTCF	chr7:126987632-126988082	T-47D	breast:	n/a	n/a
47	CHD2	chr7:126987706-126988036	H1-hESC	embryonic stem cell:	n/a	n/a
48	ZBTB7A	chr7:126987627-126988249	K562	blood:	n/a	n/a
49	CTCF	chr7:126987652-126988286	MCF-7	breast:	n/a	n/a
50	YY1	chr7:126987764-126988140	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:126987840-126987890	HNPCEpiC	eye:	n/a
2	chr7:126987840-126987890	T-47D	breast:	n/a
3	chr7:126987840-126987890	SK-N-MC	brain:	n/a
4	chr7:126987840-126987890	ovcar-3	ovarian:	n/a
5	chr7:126987840-126987890	HepG2	liver:	n/a
6	chr7:126987840-126987890	HPAEpiC	pulmonary alveolar:	n/a
7	chr7:126987840-126987890	HEK293	kidney:	embryo
8	chr7:126987840-126987890	AG04450	lung:	fetal
9	chr7:126987840-126987890	AG09319	gingival:	n/a
10	chr7:126987840-126987890	HUVEC	blood vessel:	n/a
11	chr7:126987840-126987890	Caco-2	colon:	n/a
12	chr7:126987840-126987890	K562	blood:	n/a
13	chr7:126987840-126987890	NHDF-neo	bronchial:	n/a
14	chr7:126987840-126987890	AG04449	skin:	fetal
15	chr7:126987840-126987890	A549	lung:	n/a
16	chr7:126987840-126987890	HCPEpiC	choroid plexus:	n/a
17	chr7:126987840-126987890	AG10803	skin:	n/a
18	chr7:126987840-126987890	AoSMC	blood vessel:	n/a
19	chr7:126987840-126987890	GM12892	blood:	n/a
20	chr7:126987840-126987890	NHBE	bronchial:	n/a
21	chr7:126987840-126987890	SKMC	muscle:	n/a
22	chr7:126987840-126987890	H1-hESC	embryonic stem cell:	embryo
23	chr7:126987840-126987890	PANC-1	pancreas:	n/a
24	chr7:126987840-126987890	Hela-S3	cervix:	n/a
25	chr7:126987840-126987890	HCF	heart:	n/a
26	chr7:126987840-126987890	GM19239	blood:	n/a
27	chr7:126987840-126987890	ProgFib	skin:	n/a
28	chr7:126987840-126987890	PrEC	prostate:	n/a
29	chr7:126987840-126987890	LNCaP	prostate:	n/a
30	chr7:126987840-126987890	SAEC	small airway:	n/a
31	chr7:126987840-126987890	MCF-7	breast:	n/a
32	chr7:126987840-126987890	U87	brain:	n/a
33	chr7:126987840-126987890	HRE	kidney:	n/a
34	chr7:126987840-126987890	AG09309	skin:	n/a
35	chr7:126987840-126987890	HMEC	breast:	n/a
36	chr7:126987840-126987890	GM06990	blood:	n/a
37	chr7:126987840-126987890	MCF10A-Er-Src	breast:	n/a
38	chr7:126987840-126987890	Hepatocyte	liver:	n/a
39	chr7:126987840-126987890	GM12891	blood:	n/a
40	chr7:126987840-126987890	HIPEpiC	eye:	n/a
41	chr7:126987840-126987890	IMR90	lung:	fetal
42	chr7:126987840-126987890	NB4	blood:	n/a
43	chr7:126987840-126987890	HRPEpiC	eye:	n/a
44	chr7:126987840-126987890	BJ	skin:	n/a
45	chr7:126987840-126987890	ECC-1	luminal epithelium:	n/a
46	chr7:126987840-126987890	GM12878	blood:	n/a
47	chr7:126987840-126987890	Jurkat	blood:	n/a
48	chr7:126987840-126987890	HEEpiC	esophagus:	n/a
49	chr7:126987840-126987890	RPTEC	kidney:	n/a
50	chr7:126987840-126987890	HAEpiC	amniotic membrane:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:126987640..126988151-chr7:127849704..127850461,2	MCF-7	breast:
2	chr7:126986399..126988206-chr7:127024325..127027237,2	K562	blood:
3	chr7:126985391..126987885-chr7:127220985..127222536,2	MCF-7	breast:
4	chr7:126987461..126988081-chr7:127049072..127050341,3	MCF-7	breast:
5	chr7:126985955..126988348-chr7:127020622..127023787,3	K562	blood:
6	chr7:126985498..126988348-chr7:127020185..127023787,5	K562	blood:
7	chr7:126987125..126989269-chr7:127032034..127034121,3	K562	blood:
8	chr7:126987395..126988347-chr7:127156521..127157053,2	K562	blood:
9	chr7:126894392..126896260-chr7:126987799..126989472,2	K562	blood:
10	chr7:126987414..126988399-chr7:127154646..127155519,3	MCF-7	breast:
11	chr7:126986706..126988243-chr7:127024325..127027268,2	K562	blood:
12	chr7:126985549..126992875-chr7:127029251..127034121,12	K562	blood:
13	chr7:126986612..126990415-chr7:127030676..127033732,5	MCF-7	breast:
14	chr7:126987100..126989492-chr7:127030062..127031935,2	K562	blood:
15	chr7:126987666..126988359-chr7:127047527..127048847,7	MCF-7	breast:
16	chr7:126985770..126989525-chr7:127030949..127034199,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224138	TF binding region
ENSG00000224138	CpG island
ENSG00000048405	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	nsv526043	chr7:126985158-126998210	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3418280	chr7:126987216-126989064	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126984400-127000800	Weak transcription	HSMMtube	muscle
2	chr7:126986400-126988000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:126987000-126988200	Enhancers	Gastric	stomach
4	chr7:126987000-126988400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr7:126987000-126988400	Enhancers	Placenta	Placenta
6	chr7:126987000-126988600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr7:126987200-126988800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:126987200-126995400	Weak transcription	Dnd41	blood
9	chr7:126987600-126988000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:126987600-126988000	Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr7:126987600-126988000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr7:126987600-126988000	Flanking Active TSS	Esophagus	oesophagus
13	chr7:126987600-126988000	Enhancers	Left Ventricle	heart
14	chr7:126987600-126988000	Flanking Active TSS	Right Ventricle	heart
15	chr7:126987600-126988000	ZNF genes & repeats	HSMM	muscle
16	chr7:126987600-126988000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
17	chr7:126987600-126988200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:126987600-126988200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:126987600-126988200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:126987600-126988200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr7:126987600-126988200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr7:126987600-126988200	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr7:126987600-126988200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr7:126987600-126988200	Active TSS	Primary T cells from cord blood	blood
25	chr7:126987600-126988200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr7:126987600-126988200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:126987600-126988200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:126987600-126988200	Active TSS	Brain Angular Gyrus	brain
29	chr7:126987600-126988200	Active TSS	Brain Cingulate Gyrus	brain
30	chr7:126987600-126988200	Active TSS	Brain Hippocampus Middle	brain
31	chr7:126987600-126988200	Active TSS	Duodenum Mucosa	Duodenum
32	chr7:126987600-126988200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr7:126987600-126988200	Active TSS	Fetal Brain Female	brain
34	chr7:126987600-126988200	Flanking Active TSS	Pancreas	Pancrea
35	chr7:126987600-126988200	Active TSS	Psoas Muscle	Psoas
36	chr7:126987600-126988200	Active TSS	Rectal Smooth Muscle	rectum
37	chr7:126987600-126988200	Bivalent/Poised TSS	HepG2	liver
38	chr7:126987600-126988200	Active TSS	K562	blood
39	chr7:126987600-126988200	Active TSS	NH-A	brain
40	chr7:126987600-126988200	Active TSS	NHEK	skin
41	chr7:126987600-126988200	Active TSS	Osteobl	bone
42	chr7:126987600-126988400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:126987600-126988400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
44	chr7:126987600-126988400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:126987600-126988400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr7:126987600-126988400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr7:126987600-126988400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr7:126987600-126988400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr7:126987600-126988400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:126987600-126988400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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