Variant report

Variant	rs73293896
Chromosome Location	chr7:27779621-27779622
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:432)
CpG islands
(count:122)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:27779102-27779851	K562	blood:	n/a	chr7:27779197-27779210
2	ETS1	chr7:27779554-27779876	K562	blood:	n/a	n/a
3	POLR2A	chr7:27778891-27780253	PFSK-1	brain:	n/a	n/a
4	CEBPB	chr7:27779452-27779920	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOXM1	chr7:27779467-27780694	GM12878	blood:	n/a	n/a
6	YY1	chr7:27779576-27780013	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr7:27779448-27779904	SK-N-SH	brain:	n/a	n/a
8	HEY1	chr7:27779225-27779996	HepG2	liver:	n/a	n/a
9	TBP	chr7:27779187-27780673	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:27779296-27780569	GM18526	blood:	n/a	n/a
11	RELA	chr7:27779296-27780629	GM18951	blood:	n/a	n/a
12	USF1	chr7:27779579-27779815	HepG2	liver:	n/a	n/a
13	POLR2A	chr7:27778676-27780760	PBDE	blood:	n/a	n/a
14	POLR2A	chr7:27778869-27780958	MCF10A-Er-Src	breast:	n/a	n/a
15	TAF1	chr7:27779508-27780052	GM12892	blood:	n/a	n/a
16	POLR2A	chr7:27779301-27779991	HepG2	liver:	n/a	n/a
17	POLR2A	chr7:27779472-27780644	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:27779304-27780690	MCF-7	breast:	n/a	n/a
19	SMC3	chr7:27778874-27780695	Hela-S3	cervix:	n/a	n/a
20	SIN3AK20	chr7:27779089-27780700	PANC-1	pancreas:	n/a	n/a
21	MAX	chr7:27779350-27780760	A549	lung:	n/a	chr7:27780133-27780142 chr7:27780137-27780144
22	TCF12	chr7:27779277-27780776	A549	lung:	n/a	n/a
23	SPI1	chr7:27779537-27779838	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:27778927-27780723	K562	blood:	n/a	n/a
25	USF2	chr7:27779110-27779655	Hela-S3	cervix:	n/a	n/a
26	HCFC1	chr7:27778965-27780872	K562	blood:	n/a	n/a
27	CEBPB	chr7:27779447-27779922	HepG2	liver:	n/a	n/a
28	MAX	chr7:27779220-27780880	HCT-116	colon:	n/a	chr7:27780133-27780142 chr7:27780137-27780144
29	GABPA	chr7:27779577-27779878	Hela-S3	cervix:	n/a	n/a
30	CREB1	chr7:27779398-27780735	HepG2	liver:	n/a	n/a
31	SMARCC1	chr7:27778996-27780694	Hela-S3	cervix:	n/a	n/a
32	CREB1	chr7:27779380-27780609	A549	lung:	n/a	n/a
33	SP1	chr7:27779438-27779989	H1-hESC	embryonic stem cell:	n/a	chr7:27779728-27779739 chr7:27779707-27779718
34	E2F6	chr7:27779571-27779847	K562	blood:	n/a	n/a
35	CEBPB	chr7:27779413-27779957	HepG2	liver:	n/a	n/a
36	SIN3AK20	chr7:27779540-27780626	K562	blood:	n/a	n/a
37	CREB1	chr7:27779255-27780059	K562	blood:	n/a	n/a
38	NFIC	chr7:27779357-27779815	GM12878	blood:	n/a	n/a
39	SPI1	chr7:27779433-27780069	HL-60	blood:	n/a	n/a
40	HDAC2	chr7:27779232-27779861	HepG2	liver:	n/a	chr7:27779445-27779464
41	KAP1	chr7:27779013-27779680	U2OS	brain:	n/a	n/a
42	REST	chr7:27779609-27780170	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr7:27779157-27780744	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr7:27779396-27780094	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr7:27778912-27780792	K562	blood:	n/a	n/a
46	RUNX3	chr7:27779409-27780827	GM12878	blood:	n/a	n/a
47	KAP1	chr7:27778905-27780728	HEK293	kidney:	n/a	chr7:27780370-27780378
48	REST	chr7:27779111-27780862	HL-60	blood:	n/a	chr7:27779445-27779465 chr7:27780454-27780472
49	FOXA1	chr7:27779579-27779882	T-47D	breast:	n/a	n/a
50	POLR2A	chr7:27779426-27780699	GM10847	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27779595-27779645	SK-N-MC	brain:	n/a
2	chr7:27779595-27779645	HPAEpiC	pulmonary alveolar:	n/a
3	chr7:27779610-27779660	HRPEpiC	eye:	n/a
4	chr7:27779610-27779660	PrEC	prostate:	n/a
5	chr7:27779610-27779660	NT2-D1	testis:	n/a
6	chr7:27779595-27779645	IMR90	lung:	fetal
7	chr7:27779610-27779660	MCF-7	breast:	n/a
8	chr7:27779610-27779660	HEEpiC	esophagus:	n/a
9	chr7:27779610-27779660	Hepatocyte	liver:	n/a
10	chr7:27779595-27779645	SKMC	muscle:	n/a
11	chr7:27779595-27779645	HL-60	blood:	n/a
12	chr7:27779595-27779645	ovcar-3	ovarian:	n/a
13	chr7:27779595-27779645	Hela-S3	cervix:	n/a
14	chr7:27779595-27779645	BE2_C	brain:	n/a
15	chr7:27779610-27779660	Hela-S3	cervix:	n/a
16	chr7:27779595-27779645	GM06990	blood:	n/a
17	chr7:27779595-27779645	LNCaP	prostate:	n/a
18	chr7:27779610-27779660	HEK293	kidney:	embryo
19	chr7:27779595-27779645	T-47D	breast:	n/a
20	chr7:27779595-27779645	HRCEpiC	kidney:	n/a
21	chr7:27779610-27779660	HRE	kidney:	n/a
22	chr7:27779595-27779645	HCT-116	colon:	n/a
23	chr7:27779610-27779660	H1-hESC	embryonic stem cell:	embryo
24	chr7:27779610-27779660	Jurkat	blood:	n/a
25	chr7:27779610-27779660	PANC-1	pancreas:	n/a
26	chr7:27779595-27779645	HMEC	breast:	n/a
27	chr7:27779595-27779645	NB4	blood:	n/a
28	chr7:27779610-27779660	AG04449	skin:	fetal
29	chr7:27779595-27779645	HIPEpiC	eye:	n/a
30	chr7:27779595-27779645	HRPEpiC	eye:	n/a
31	chr7:27779610-27779660	AG04450	lung:	fetal
32	chr7:27779610-27779660	SK-N-SH_RA	brain:	n/a
33	chr7:27779610-27779660	A549	lung:	n/a
34	chr7:27779610-27779660	K562	blood:	n/a
35	chr7:27779610-27779660	GM12891	blood:	n/a
36	chr7:27779610-27779660	HNPCEpiC	eye:	n/a
37	chr7:27779610-27779660	T-47D	breast:	n/a
38	chr7:27779610-27779660	AG09309	skin:	n/a
39	chr7:27779595-27779645	HRE	kidney:	n/a
40	chr7:27779595-27779645	NHBE	bronchial:	n/a
41	chr7:27779610-27779660	SK-N-SH	brain:	n/a
42	chr7:27779610-27779660	HCF	heart:	n/a
43	chr7:27779610-27779660	SK-N-MC	brain:	n/a
44	chr7:27779610-27779660	HAEpiC	amniotic membrane:	n/a
45	chr7:27779595-27779645	SK-N-SH	brain:	n/a
46	chr7:27779610-27779660	HPAEpiC	pulmonary alveolar:	n/a
47	chr7:27779595-27779645	MCF-7	breast:	n/a
48	chr7:27779610-27779660	U87	brain:	n/a
49	chr7:27779610-27779660	CMK	blood:	n/a
50	chr7:27779595-27779645	CMK	blood:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123011130..123011798-chr7:27778729..27779635,2	Hela-S3	cervix:
2	chr7:27778585..27781573-chr7:27808183..27810027,3	MCF-7	breast:
3	chr7:27699948..27706867-chr7:27775418..27784557,21	K562	blood:
4	chr7:27700432..27708426-chr7:27777901..27782637,20	K562	blood:
5	chr3:73160071..73160592-chr7:27779505..27780168,3	Hela-S3	cervix:
6	chr19:58897936..58898894-chr7:27779347..27780195,2	NB4	blood:
7	chr6:43737972..43738858-chr7:27779375..27780262,2	Hela-S3	cervix:
8	chr11:82867593..82868687-chr7:27779379..27780278,3	NB4	blood:
9	chr6:30181004..30182231-chr7:27779467..27780336,3	Hela-S3	cervix:
10	chr7:27779565..27780071-chrX:153626691..153627243,2	Hela-S3	cervix:
11	chr20:32580406..32581017-chr7:27779258..27779953,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
TAX1BP1	TF binding region
TAX1BP1	CpG island
ENSG00000165494	Chromatin interaction
ENSG00000106049	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000234127	Chromatin interaction
ENSG00000272114	Chromatin interaction
ENSG00000106052	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000266640	Chromatin interaction
ENSG00000228265	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000083845	Chromatin interaction
ENSG00000184445	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs59094104	1.00[AMR][1000 genomes]
rs59459002	0.86[AFR][1000 genomes]
rs73285185	0.86[AFR][1000 genomes]
rs73293827	1.00[AMR][1000 genomes]
rs73293846	1.00[AMR][1000 genomes]
rs73293879	1.00[AMR][1000 genomes]
rs73295568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27777800-27781200	Active TSS	K562	blood
2	chr7:27778200-27780600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:27778400-27780800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:27778400-27781200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:27778600-27780600	Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr7:27778600-27780600	Active TSS	Stomach Smooth Muscle	stomach
7	chr7:27778600-27780800	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr7:27778600-27781000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:27778600-27781200	Active TSS	Fetal Intestine Large	intestine
10	chr7:27778600-27781200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr7:27778600-27781200	Active TSS	GM12878-XiMat	blood
12	chr7:27778600-27781200	Active TSS	NHLF	lung
13	chr7:27778600-27782200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:27778800-27779800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:27778800-27779800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:27778800-27780600	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr7:27778800-27780600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:27778800-27780600	Active TSS	Fetal Stomach	stomach
19	chr7:27778800-27780800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:27778800-27780800	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr7:27778800-27780800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:27778800-27780800	Active TSS	Colon Smooth Muscle	Colon
23	chr7:27778800-27780800	Active TSS	Fetal Muscle Leg	muscle
24	chr7:27778800-27781000	Active TSS	H1 Cell Line	embryonic stem cell
25	chr7:27778800-27781000	Active TSS	Colonic Mucosa	Colon
26	chr7:27778800-27781000	Active TSS	Psoas Muscle	Psoas
27	chr7:27778800-27781200	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr7:27778800-27781200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:27778800-27781200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:27778800-27781200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:27778800-27781200	Active TSS	Brain Angular Gyrus	brain
32	chr7:27778800-27781200	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr7:27778800-27781200	Active TSS	Fetal Intestine Small	intestine
34	chr7:27778800-27781200	Active TSS	Right Ventricle	heart
35	chr7:27778800-27781200	Active TSS	Stomach Mucosa	stomach
36	chr7:27778800-27781200	Active TSS	NHDF-Ad	bronchial
37	chr7:27778800-27781400	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr7:27779000-27780400	Active TSS	Primary T cells fromperipheralblood	blood
39	chr7:27779000-27780600	Active TSS	Brain Substantia Nigra	brain
40	chr7:27779000-27780600	Active TSS	Duodenum Mucosa	Duodenum
41	chr7:27779000-27780600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr7:27779000-27780800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:27779000-27780800	Active TSS	Left Ventricle	heart
44	chr7:27779000-27780800	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr7:27779000-27780800	Active TSS	Hela-S3	cervix
46	chr7:27779000-27780800	Bivalent/Poised TSS	HepG2	liver
47	chr7:27779000-27781000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:27779000-27781000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:27779000-27781000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:27779000-27781000	Active TSS	Aorta	Aorta

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