Variant report

Variant	rs186632302
Chromosome Location	chr1:84639668-84639669
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	STAT3	chr1:84639667-84639787	MCF10A-Er-Src	breast:	n/a	chr1:84639714-84639722 chr1:84639714-84639723 chr1:84639708-84639728 chr1:84639713-84639722
2	RAD21	chr1:84639558-84640584	HCT-116	colon:	n/a	n/a
3	JUND	chr1:84639636-84640473	SK-N-SH	brain:	n/a	chr1:84640130-84640141
4	CEBPB	chr1:84639591-84640709	HCT-116	colon:	n/a	n/a
5	JUND	chr1:84639592-84640598	HCT-116	colon:	n/a	chr1:84640130-84640141
6	ELF1	chr1:84639616-84640543	HCT-116	colon:	n/a	n/a
7	TEAD4	chr1:84639597-84640419	HCT-116	colon:	n/a	n/a
8	TCF12	chr1:84639662-84640477	SK-N-SH	brain:	n/a	chr1:84640318-84640325
9	POLR2A	chr1:84639582-84640498	HCT-116	colon:	n/a	n/a
10	GATA2	chr1:84639623-84640288	HUVEC	blood vessel:	n/a	chr1:84639992-84640006
11	SP1	chr1:84639518-84640682	HCT-116	colon:	n/a	n/a
12	SIN3AK20	chr1:84639613-84640548	HCT-116	colon:	n/a	n/a
13	EP300	chr1:84639621-84640540	A549	lung:	n/a	n/a
14	JUND	chr1:84639659-84640480	SK-N-SH	brain:	n/a	chr1:84640130-84640141
15	CBX3	chr1:84639583-84640587	HCT-116	colon:	n/a	n/a
16	MAX	chr1:84639474-84640525	HCT-116	colon:	n/a	n/a
17	CEBPB	chr1:84639642-84640513	HCT-116	colon:	n/a	n/a
18	FOSL1	chr1:84639578-84640656	HCT-116	colon:	n/a	n/a
19	TCF12	chr1:84639587-84640517	SK-N-SH	brain:	n/a	chr1:84640318-84640325
20	JUND	chr1:84639576-84640523	HCT-116	colon:	n/a	chr1:84640130-84640141
21	JUND	chr1:84639590-84640514	SK-N-SH	brain:	n/a	chr1:84640130-84640141
22	NFIC	chr1:84639621-84640218	SK-N-SH	brain:	n/a	n/a
23	SP1	chr1:84639607-84640678	HCT-116	colon:	n/a	n/a
24	GATA3	chr1:84639631-84640401	SK-N-SH	brain:	n/a	n/a
25	GATA3	chr1:84639640-84640426	SK-N-SH	brain:	n/a	n/a
26	SRF	chr1:84639666-84640661	HCT-116	colon:	n/a	n/a
27	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:64 , 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	chr1:84630600-84639800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:84630600-84640400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr1:84630800-84648200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:84632600-84647800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:84632800-84647400	Weak transcription	Dnd41	blood
9	chr1:84633000-84648400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:84633000-84649600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:84634000-84647800	Weak transcription	Primary B cells from cord blood	blood
12	chr1:84634000-84648200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:84634800-84649400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:84634800-84651400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:84634800-84651800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:84635000-84656400	Weak transcription	Fetal Heart	heart
17	chr1:84636000-84639800	Weak transcription	Osteobl	bone
18	chr1:84636200-84639800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:84636400-84639800	Weak transcription	Small Intestine	intestine
20	chr1:84636400-84643000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:84636400-84652400	Weak transcription	Fetal Brain Female	brain
22	chr1:84636800-84640400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:84637400-84640400	Enhancers	Primary T cells from cord blood	blood
24	chr1:84638000-84640000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:84638200-84648200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:84638600-84640200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr1:84638600-84640400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:84638800-84639800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:84639000-84639800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:84639000-84640400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:84639200-84640000	Enhancers	Fetal Brain Male	brain
32	chr1:84639200-84640200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:84639200-84641200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:84639400-84640000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr1:84639400-84640400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr1:84639600-84639800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr1:84639600-84639800	Active TSS	Brain Angular Gyrus	brain
38	chr1:84639600-84639800	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr1:84639600-84639800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr1:84639600-84639800	Flanking Active TSS	A549	lung
41	chr1:84639600-84639800	Enhancers	HMEC	breast
42	chr1:84639600-84640000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr1:84639600-84640000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:84639600-84640000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr1:84639600-84640000	Active TSS	Brain Hippocampus Middle	brain
46	chr1:84639600-84640200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:84639600-84640200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr1:84639600-84640200	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr1:84639600-84640200	Active TSS	Brain Substantia Nigra	brain
50	chr1:84639600-84640200	Enhancers	Placenta Amnion	Placenta Amnion

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