Variant report

Variant	rs76974562
Chromosome Location	chr1:84639805-84639806
allele	A/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	TEAD4	chr1:84639781-84640397	HCT-116	colon:	n/a	n/a
2	RAD21	chr1:84639558-84640584	HCT-116	colon:	n/a	n/a
3	EP300	chr1:84639723-84640421	SK-N-SH	brain:	n/a	n/a
4	RAD21	chr1:84639802-84640026	A549	lung:	n/a	n/a
5	JUND	chr1:84639636-84640473	SK-N-SH	brain:	n/a	chr1:84640130-84640141
6	CEBPB	chr1:84639591-84640709	HCT-116	colon:	n/a	n/a
7	TCF7L2	chr1:84639750-84640362	PANC-1	pancreas:	n/a	n/a
8	JUND	chr1:84639592-84640598	HCT-116	colon:	n/a	chr1:84640130-84640141
9	EP300	chr1:84639730-84640412	A549	lung:	n/a	n/a
10	EP300	chr1:84639707-84640423	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr1:84639731-84640466	HUVEC	blood vessel:	n/a	n/a
12	ELF1	chr1:84639616-84640543	HCT-116	colon:	n/a	n/a
13	TEAD4	chr1:84639597-84640419	HCT-116	colon:	n/a	n/a
14	TCF12	chr1:84639662-84640477	SK-N-SH	brain:	n/a	chr1:84640318-84640325
15	FOSL2	chr1:84639730-84640545	A549	lung:	n/a	n/a
16	SP1	chr1:84639750-84640510	A549	lung:	n/a	n/a
17	POLR2A	chr1:84639582-84640498	HCT-116	colon:	n/a	n/a
18	PBX3	chr1:84639750-84640333	SK-N-SH	brain:	n/a	n/a
19	ATF3	chr1:84639743-84640360	A549	lung:	n/a	n/a
20	TEAD4	chr1:84639750-84640336	ECC-1	luminal epithelium:	n/a	n/a
21	TCF7L2	chr1:84639762-84640418	HCT-116	colon:	n/a	n/a
22	TCF12	chr1:84639686-84640566	A549	lung:	n/a	chr1:84640318-84640325
23	YY1	chr1:84639727-84640215	SK-N-SH	brain:	n/a	n/a
24	TEAD4	chr1:84639767-84640413	ECC-1	luminal epithelium:	n/a	n/a
25	GATA2	chr1:84639623-84640288	HUVEC	blood vessel:	n/a	chr1:84639992-84640006
26	SP1	chr1:84639518-84640682	HCT-116	colon:	n/a	n/a
27	SIN3AK20	chr1:84639613-84640548	HCT-116	colon:	n/a	n/a
28	FOSL2	chr1:84639704-84640460	SK-N-SH	brain:	n/a	n/a
29	CBX3	chr1:84639712-84640465	HCT-116	colon:	n/a	n/a
30	EP300	chr1:84639621-84640540	A549	lung:	n/a	n/a
31	JUND	chr1:84639659-84640480	SK-N-SH	brain:	n/a	chr1:84640130-84640141
32	SP1	chr1:84639769-84640374	A549	lung:	n/a	n/a
33	CBX3	chr1:84639583-84640587	HCT-116	colon:	n/a	n/a
34	TEAD4	chr1:84639783-84640364	A549	lung:	n/a	n/a
35	MAX	chr1:84639474-84640525	HCT-116	colon:	n/a	n/a
36	CEBPB	chr1:84639642-84640513	HCT-116	colon:	n/a	n/a
37	FOSL1	chr1:84639578-84640656	HCT-116	colon:	n/a	n/a
38	TCF12	chr1:84639587-84640517	SK-N-SH	brain:	n/a	chr1:84640318-84640325
39	JUND	chr1:84639576-84640523	HCT-116	colon:	n/a	chr1:84640130-84640141
40	JUND	chr1:84639590-84640514	SK-N-SH	brain:	n/a	chr1:84640130-84640141
41	NFIC	chr1:84639621-84640218	SK-N-SH	brain:	n/a	n/a
42	SP1	chr1:84639607-84640678	HCT-116	colon:	n/a	n/a
43	GATA3	chr1:84639631-84640401	SK-N-SH	brain:	n/a	n/a
44	FOSL1	chr1:84639675-84640536	HCT-116	colon:	n/a	n/a
45	GATA3	chr1:84639640-84640426	SK-N-SH	brain:	n/a	n/a
46	TEAD4	chr1:84639730-84640486	SK-N-SH	brain:	n/a	n/a
47	SRF	chr1:84639666-84640661	HCT-116	colon:	n/a	n/a
48	GATA3	chr1:84639648-84640509	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84639020..84640539-chr1:84647151..84649519,2	MCF-7	breast:
2	chr1:84639501..84640001-chr11:32381239..32382124,2	MCF-7	breast:

Variant related genes	Relation type
PRKACB	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv871731	chr1:84597396-84658591	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv871656	chr1:84601048-84693671	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv997601	chr1:84609346-84672859	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1005225	chr1:84609871-84667950	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1002537	chr1:84611207-84658450	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv999772	chr1:84611207-84667218	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1013911	chr1:84619164-84667950	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv871375	chr1:84622793-84678418	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv871643	chr1:84628655-84705481	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
12	nsv871538	chr1:84633116-84717983	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv830414	chr1:84636738-84824651	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	nsv1011105	chr1:84638386-84674276	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84624000-84651800	Weak transcription	Thymus	Thymus
2	chr1:84629200-84654000	Weak transcription	Spleen	Spleen
3	chr1:84629400-84644400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:84630600-84640400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr1:84630800-84648200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:84632600-84647800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:84632800-84647400	Weak transcription	Dnd41	blood
8	chr1:84633000-84648400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:84633000-84649600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:84634000-84647800	Weak transcription	Primary B cells from cord blood	blood
11	chr1:84634000-84648200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:84634800-84649400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:84634800-84651400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:84634800-84651800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:84635000-84656400	Weak transcription	Fetal Heart	heart
16	chr1:84636400-84643000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:84636400-84652400	Weak transcription	Fetal Brain Female	brain
18	chr1:84636800-84640400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:84637400-84640400	Enhancers	Primary T cells from cord blood	blood
20	chr1:84638000-84640000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:84638200-84648200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:84638600-84640200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr1:84638600-84640400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:84639000-84640400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:84639200-84640000	Enhancers	Fetal Brain Male	brain
26	chr1:84639200-84640200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:84639200-84641200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:84639400-84640000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr1:84639400-84640400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr1:84639600-84640000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr1:84639600-84640000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:84639600-84640000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:84639600-84640000	Active TSS	Brain Hippocampus Middle	brain
34	chr1:84639600-84640200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:84639600-84640200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr1:84639600-84640200	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr1:84639600-84640200	Active TSS	Brain Substantia Nigra	brain
38	chr1:84639600-84640200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr1:84639600-84640200	Enhancers	NHLF	lung
40	chr1:84639600-84640400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr1:84639600-84640400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:84639600-84640400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:84639600-84640400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr1:84639600-84640400	Enhancers	Fetal Intestine Small	intestine
45	chr1:84639600-84640400	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr1:84639600-84640400	Enhancers	HSMM	muscle
47	chr1:84639600-84640400	Enhancers	NH-A	brain
48	chr1:84639600-84640600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr1:84639600-84640600	Flanking Active TSS	HUVEC	blood vessel
50	chr1:84639600-84640600	Enhancers	NHEK	skin

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