Variant report

Variant	rs568223688
Chromosome Location	chr1:46649160-46649161
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:186)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:186 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:46648665-46650061	ECC-1	luminal epithelium:	n/a	n/a
2	KAP1	chr1:46648880-46649304	U2OS	brain:	n/a	n/a
3	NFIC	chr1:46648647-46649540	SK-N-SH	brain:	n/a	n/a
4	HNF4A	chr1:46648686-46649168	HepG2	liver:	n/a	chr1:46648955-46648970 chr1:46648957-46648969 chr1:46648954-46648972 chr1:46648955-46648970 chr1:46648956-46648970 chr1:46648980-46648988 chr1:46648955-46648970 chr1:46648957-46648970 chr1:46648957-46648969
5	JUN	chr1:46648886-46649287	HUVEC	blood vessel:	n/a	n/a
6	TCF7L2	chr1:46648804-46649401	HCT-116	colon:	n/a	n/a
7	POLR2A	chr1:46648957-46649586	HepG2	liver:	n/a	n/a
8	STAT3	chr1:46648788-46649471	MCF10A-Er-Src	breast:	n/a	n/a
9	FOSL2	chr1:46648875-46649262	A549	lung:	n/a	n/a
10	MXI1	chr1:46648843-46649309	HepG2	liver:	n/a	n/a
11	FOXM1	chr1:46648584-46649728	ECC-1	luminal epithelium:	n/a	n/a
12	FOS	chr1:46648856-46649519	MCF10A-Er-Src	breast:	n/a	chr1:46649104-46649115
13	EP300	chr1:46648651-46649305	T-47D	breast:	n/a	n/a
14	NR3C1	chr1:46648837-46649722	A549	lung:	n/a	n/a
15	NFIC	chr1:46648456-46649764	ECC-1	luminal epithelium:	n/a	n/a
16	TAF1	chr1:46648803-46649298	SK-N-SH	brain:	n/a	n/a
17	JUND	chr1:46648832-46649204	HepG2	liver:	n/a	chr1:46649104-46649115
18	FOXM1	chr1:46648604-46649564	ECC-1	luminal epithelium:	n/a	n/a
19	JUND	chr1:46648880-46649228	HepG2	liver:	n/a	chr1:46649104-46649115
20	TEAD4	chr1:46648710-46649246	HepG2	liver:	n/a	n/a
21	EP300	chr1:46648770-46649161	T-47D	breast:	n/a	n/a
22	MAX	chr1:46648773-46649392	A549	lung:	n/a	n/a
23	MAX	chr1:46648705-46649356	SK-N-SH	brain:	n/a	n/a
24	FOXA2	chr1:46648865-46649284	A549	lung:	n/a	n/a
25	GABPA	chr1:46648634-46649351	MCF-7	breast:	n/a	n/a
26	POLR2A	chr1:46648693-46652144	ECC-1	luminal epithelium:	n/a	n/a
27	SP1	chr1:46648441-46650020	HCT-116	colon:	n/a	chr1:46649753-46649774
28	GATA3	chr1:46648672-46649330	MCF-7	breast:	n/a	n/a
29	POLR2A	chr1:46648640-46650031	HCT-116	colon:	n/a	n/a
30	POLR2A	chr1:46648617-46649506	PANC-1	pancreas:	n/a	n/a
31	FOS	chr1:46648884-46649493	Hela-S3	cervix:	n/a	chr1:46649104-46649115
32	FOS	chr1:46648789-46649467	MCF10A-Er-Src	breast:	n/a	chr1:46649104-46649115
33	MYBL2	chr1:46648653-46649289	HepG2	liver:	n/a	n/a
34	YY1	chr1:46648684-46649583	ECC-1	luminal epithelium:	n/a	n/a
35	PBX3	chr1:46648690-46649487	SK-N-SH	brain:	n/a	n/a
36	SIN3AK20	chr1:46648670-46649244	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr1:46648812-46649702	Hela-S3	cervix:	n/a	n/a
38	FOSL2	chr1:46648845-46649285	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr1:46648796-46649690	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr1:46648645-46650023	MCF10A-Er-Src	breast:	n/a	n/a
41	SPI1	chr1:46648805-46649173	HL-60	blood:	n/a	chr1:46649040-46649049
42	NR3C1	chr1:46648859-46649187	A549	lung:	n/a	n/a
43	JUND	chr1:46648672-46649469	SK-N-SH	brain:	n/a	chr1:46649104-46649115
44	JUND	chr1:46648673-46649430	SK-N-SH	brain:	n/a	chr1:46649104-46649115
45	POLR2A	chr1:46648733-46649299	HUVEC	blood vessel:	n/a	n/a
46	HNF4A	chr1:46648787-46649465	HepG2	liver:	n/a	chr1:46648955-46648970 chr1:46648957-46648969 chr1:46648954-46648972 chr1:46648955-46648970 chr1:46648956-46648970 chr1:46648980-46648988 chr1:46648955-46648970 chr1:46648957-46648970 chr1:46648957-46648969
47	TBP	chr1:46648754-46649303	Hela-S3	cervix:	n/a	n/a
48	FOXA1	chr1:46648711-46649182	T-47D	breast:	n/a	n/a
49	MAX	chr1:46648671-46649317	SK-N-SH	brain:	n/a	n/a
50	EP300	chr1:46648712-46649234	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:46649132-46649182	AG09309	skin:	n/a
2	chr1:46649132-46649182	U87	brain:	n/a
3	chr1:46649132-46649182	PANC-1	pancreas:	n/a
4	chr1:46649132-46649182	ovcar-3	ovarian:	n/a
5	chr1:46649132-46649182	HCF	heart:	n/a
6	chr1:46649132-46649182	IMR90	lung:	fetal
7	chr1:46649132-46649182	Jurkat	blood:	n/a
8	chr1:46649132-46649182	AoSMC	blood vessel:	n/a
9	chr1:46649132-46649182	ProgFib	skin:	n/a
10	chr1:46649132-46649182	Caco-2	colon:	n/a
11	chr1:46649132-46649182	GM12878	blood:	n/a
12	chr1:46649132-46649182	GM06990	blood:	n/a
13	chr1:46649132-46649182	Hela-S3	cervix:	n/a
14	chr1:46649132-46649182	HIPEpiC	eye:	n/a
15	chr1:46649132-46649182	SK-N-MC	brain:	n/a
16	chr1:46649132-46649182	HCPEpiC	choroid plexus:	n/a
17	chr1:46649132-46649182	NB4	blood:	n/a
18	chr1:46649132-46649182	HMEC	breast:	n/a
19	chr1:46649132-46649182	HUVEC	blood vessel:	n/a
20	chr1:46649132-46649182	Hepatocyte	liver:	n/a
21	chr1:46649132-46649182	A549	lung:	n/a
22	chr1:46649132-46649182	H1-hESC	embryonic stem cell:	embryo
23	chr1:46649132-46649182	HL-60	blood:	n/a
24	chr1:46649132-46649182	HEEpiC	esophagus:	n/a
25	chr1:46649132-46649182	CMK	blood:	n/a
26	chr1:46649132-46649182	HEK293	kidney:	embryo
27	chr1:46649132-46649182	PFSK-1	brain:	n/a
28	chr1:46649132-46649182	NHBE	bronchial:	n/a
29	chr1:46649132-46649182	HRCEpiC	kidney:	n/a
30	chr1:46649132-46649182	HCM	heart:	n/a
31	chr1:46649132-46649182	NT2-D1	testis:	n/a
32	chr1:46649132-46649182	SK-N-SH_RA	brain:	n/a
33	chr1:46649132-46649182	ECC-1	luminal epithelium:	n/a
34	chr1:46649132-46649182	BJ	skin:	n/a
35	chr1:46649132-46649182	LNCaP	prostate:	n/a
36	chr1:46649132-46649182	AG10803	skin:	n/a
37	chr1:46649132-46649182	NHDF-neo	bronchial:	n/a
38	chr1:46649132-46649182	PrEC	prostate:	n/a
39	chr1:46649132-46649182	GM12891	blood:	n/a
40	chr1:46649132-46649182	BE2_C	brain:	n/a
41	chr1:46649132-46649182	NH-A	brain:	n/a
42	chr1:46649132-46649182	HAEpiC	amniotic membrane:	n/a
43	chr1:46649132-46649182	SAEC	small airway:	n/a
44	chr1:46649132-46649182	MCF10A-Er-Src	breast:	n/a
45	chr1:46649132-46649182	HRPEpiC	eye:	n/a
46	chr1:46649132-46649182	AG04450	lung:	fetal
47	chr1:46649132-46649182	AG09319	gingival:	n/a
48	chr1:46649132-46649182	HRE	kidney:	n/a
49	chr1:46649132-46649182	SK-N-SH	brain:	n/a
50	chr1:46649132-46649182	HNPCEpiC	eye:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46592691..46601867-chr1:46642778..46650670,25	MCF-7	breast:
2	chr1:46593944..46606364-chr1:46632700..46654752,92	MCF-7	breast:
3	chr1:46646789..46649181-chr1:46713269..46714809,2	K562	blood:
4	chr1:46648153..46649948-chr1:46767534..46769281,2	MCF-7	breast:
5	chr1:46648447..46653398-chr1:46660649..46666552,10	K562	blood:
6	chr1:46638980..46642595-chr1:46645721..46649189,9	MCF-7	breast:
7	chr1:46645973..46650649-chr1:46685566..46691437,5	MCF-7	breast:

No data

Variant related genes	Relation type
TSPAN1	TF binding region
TSPAN1	CpG island
ENSG00000250719	Chromatin interaction
ENSG00000227857	Chromatin interaction
ENSG00000132128	Chromatin interaction
ENSG00000085999	Chromatin interaction
ENSG00000117472	Chromatin interaction
ENSG00000085998	Chromatin interaction
ENSG00000117461	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
2	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
5	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1006747	chr1:46476089-46655484	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv534947	chr1:46476089-46655484	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1006530	chr1:46544842-46655484	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv534949	chr1:46544842-46655484	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv527878	chr1:46649046-46660295	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46637800-46649600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:46639400-46653800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:46639600-46652800	Weak transcription	Brain Germinal Matrix	brain
4	chr1:46640800-46656400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:46644800-46651400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:46645000-46651400	Enhancers	Fetal Thymus	thymus
7	chr1:46645200-46649800	Enhancers	Placenta	Placenta
8	chr1:46645200-46650200	Enhancers	Fetal Muscle Trunk	muscle
9	chr1:46645200-46651400	Enhancers	Pancreas	Pancrea
10	chr1:46645200-46657800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:46645400-46649200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr1:46645400-46649600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:46645400-46650600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:46645400-46652200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:46645600-46649200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:46645600-46649600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:46645600-46650400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:46645600-46650400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:46645600-46650800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:46645600-46652800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:46645600-46653200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:46645600-46653600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:46645600-46658200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:46645800-46663200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:46646000-46649200	Active TSS	Colonic Mucosa	Colon
26	chr1:46646000-46652800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:46646000-46653200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:46646000-46654400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:46646000-46657600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:46646200-46650800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:46646200-46652800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:46646400-46649200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:46646400-46650200	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:46646400-46650400	Weak transcription	K562	blood
35	chr1:46646400-46650800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:46646600-46649800	Enhancers	HUVEC	blood vessel
37	chr1:46646800-46649800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:46646800-46650000	Enhancers	Fetal Muscle Leg	muscle
39	chr1:46646800-46650400	Enhancers	A549	lung
40	chr1:46647000-46649600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:46647000-46650000	Enhancers	NHDF-Ad	bronchial
42	chr1:46647000-46650600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:46647000-46651400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr1:46647000-46653400	Weak transcription	Fetal Brain Male	brain
45	chr1:46647200-46649200	Enhancers	Fetal Lung	lung
46	chr1:46647200-46649800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:46647200-46649800	Enhancers	NHLF	lung
48	chr1:46647200-46650200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:46647200-46650200	Enhancers	NH-A	brain
50	chr1:46647200-46651400	Enhancers	HSMM	muscle

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