Variant report

Variant	rs184249327
Chromosome Location	chr1:158979216-158979217
allele	A/C
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	chr1:158978735-158980510	MCF10A-Er-Src	breast:	n/a	chr1:158979842-158979853 chr1:158979355-158979364
2	E2F4	chr1:158979132-158979924	MCF10A-Er-Src	breast:	n/a	n/a
3	MAX	chr1:158978733-158980031	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr1:158978406-158980376	GM12892	blood:	n/a	n/a
5	YY1	chr1:158979078-158979383	GM12892	blood:	n/a	chr1:158979303-158979311
6	TBP	chr1:158978436-158980668	GM12878	blood:	n/a	n/a
7	YY1	chr1:158979165-158979389	GM12891	blood:	n/a	chr1:158979303-158979311
8	POLR2A	chr1:158978455-158980617	GM18951	blood:	n/a	n/a
9	FOS	chr1:158979127-158980621	MCF10A-Er-Src	breast:	n/a	chr1:158979356-158979363 chr1:158980113-158980122 chr1:158979356-158979365 chr1:158980385-158980394
10	POLR2A	chr1:158978428-158980356	GM12892	blood:	n/a	n/a
11	KAP1	chr1:158978548-158980551	HEK293	kidney:	n/a	chr1:158979354-158979363
12	FOS	chr1:158979119-158980165	MCF10A-Er-Src	breast:	n/a	chr1:158979356-158979363 chr1:158980113-158980122 chr1:158979356-158979365
13	YY1	chr1:158978531-158980036	GM12878	blood:	n/a	chr1:158979303-158979311
14	POLR2A	chr1:158978508-158980689	GM12892	blood:	n/a	n/a
15	EP300	chr1:158978552-158979260	GM12878	blood:	n/a	chr1:158978888-158978895
16	YY1	chr1:158979153-158979923	SK-N-SH_RA	brain:	n/a	chr1:158979303-158979311
17	POLR2A	chr1:158978461-158980586	GM18526	blood:	n/a	n/a
18	POLR2A	chr1:158979134-158979379	GM12878	blood:	n/a	n/a
19	MXI1	chr1:158978956-158981134	IMR90	lung:	n/a	n/a
20	RELA	chr1:158978511-158979901	GM19099	blood:	n/a	chr1:158979114-158979123 chr1:158979114-158979123
21	POLR2A	chr1:158978459-158981042	GM15510	blood:	n/a	n/a
22	KAP1	chr1:158978346-158980205	U2OS	brain:	n/a	chr1:158979354-158979363
23	GTF2F1	chr1:158979204-158980177	Hela-S3	cervix:	n/a	n/a
24	RCOR1	chr1:158978512-158980241	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:158979131-158980643	U87	brain:	n/a	n/a
26	POLR2A	chr1:158979097-158980028	GM12891	blood:	n/a	n/a
27	STAT3	chr1:158978935-158980925	MCF10A-Er-Src	breast:	n/a	chr1:158979842-158979853 chr1:158979355-158979364
28	TAF1	chr1:158979082-158980072	GM12878	blood:	n/a	n/a
29	POLR2A	chr1:158978710-158981534	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr1:158979144-158980622	MCF10A-Er-Src	breast:	n/a	chr1:158979356-158979363 chr1:158980113-158980122 chr1:158979356-158979365 chr1:158980385-158980394
31	MAZ	chr1:158978304-158979927	GM12878	blood:	n/a	n/a
32	STAT3	chr1:158978936-158980665	MCF10A-Er-Src	breast:	n/a	chr1:158979842-158979853 chr1:158979355-158979364
33	POLR2A	chr1:158978457-158980760	GM12878	blood:	n/a	n/a
34	POLR2A	chr1:158978464-158986840	GM12892	blood:	n/a	n/a
35	CHD2	chr1:158978435-158980163	GM12878	blood:	n/a	n/a
36	STAT1	chr1:158979114-158980276	Hela-S3	cervix:	n/a	chr1:158979608-158979619 chr1:158979355-158979364
37	STAT3	chr1:158979009-158980766	MCF10A-Er-Src	breast:	n/a	chr1:158979842-158979853 chr1:158979355-158979364
38	MYC	chr1:158979105-158980701	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr1:158979204-158980111	GM12878	blood:	n/a	n/a
40	CHD1	chr1:158978577-158980909	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:158978242-158981066	GM12878	blood:	n/a	n/a
42	FOSL2	chr1:158979095-158980134	SK-N-SH	brain:	n/a	chr1:158979356-158979363 chr1:158980113-158980122 chr1:158979356-158979365
43	YY1	chr1:158979106-158979879	GM12892	blood:	n/a	chr1:158979303-158979311
44	POLR2A	chr1:158978391-158981364	GM12878	blood:	n/a	n/a
45	POLR2A	chr1:158978442-158980954	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:158978595-158980199	GM12878	blood:	n/a	n/a
47	PML	chr1:158978434-158980352	GM12878	blood:	n/a	chr1:158979354-158979363
48	POLR2A	chr1:158979131-158980615	U87	brain:	n/a	n/a
49	YY1	chr1:158979112-158980011	GM12878	blood:	n/a	chr1:158979303-158979311
50	POLR2A	chr1:158979162-158980651	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158978448..158981430-chr1:159044743..159047016,2	K562	blood:

Variant related genes	Relation type
IFI16	TF binding region
ENSG00000163568	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3376764	chr1:158761947-158998617	Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3369957	chr1:158915589-159003393	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv3176	chr1:158955373-158986568	Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158970800-158980800	Weak transcription	Pancreas	Pancrea
2	chr1:158971800-158979800	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:158972000-158979600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:158975000-158979800	Weak transcription	Lung	lung
5	chr1:158976000-158979400	Weak transcription	Left Ventricle	heart
6	chr1:158976000-158979400	Weak transcription	Ovary	ovary
7	chr1:158976000-158979600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:158976000-158983000	Weak transcription	Spleen	Spleen
9	chr1:158976000-159000800	Weak transcription	Gastric	stomach
10	chr1:158976400-158979400	Weak transcription	Fetal Kidney	kidney
11	chr1:158976400-158979400	Weak transcription	Placenta	Placenta
12	chr1:158976400-158979800	Weak transcription	Stomach Mucosa	stomach
13	chr1:158977200-158979600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:158977200-158990400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:158977600-158979400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:158977600-158979600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:158977800-158979600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:158977800-158982400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:158978200-158979400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr1:158978200-158979400	Enhancers	Brain Cingulate Gyrus	brain
21	chr1:158978200-158979400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:158978200-158979400	Flanking Active TSS	GM12878-XiMat	blood
23	chr1:158978200-158979600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:158978200-158979600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:158978200-158980400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:158978200-158981400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr1:158978400-158979400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr1:158978400-158979400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr1:158978400-158979400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:158978400-158979400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:158978400-158979400	Enhancers	Fetal Intestine Large	intestine
32	chr1:158978400-158979400	Enhancers	Fetal Muscle Leg	muscle
33	chr1:158978400-158979400	Flanking Active TSS	Dnd41	blood
34	chr1:158978400-158979400	Enhancers	HMEC	breast
35	chr1:158978400-158979400	Enhancers	HSMM	muscle
36	chr1:158978400-158979600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:158978400-158979600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr1:158978400-158979600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:158978400-158979600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:158978400-158979600	Enhancers	Hela-S3	cervix
41	chr1:158978400-158979600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr1:158978600-158979400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr1:158978600-158979400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:158978600-158979400	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr1:158978600-158979400	Enhancers	Brain Angular Gyrus	brain
46	chr1:158978600-158979400	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr1:158978600-158979400	Enhancers	Esophagus	oesophagus
48	chr1:158978600-158979600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr1:158978600-158979600	Enhancers	Small Intestine	intestine
50	chr1:158978600-158980200	Flanking Active TSS	Primary hematopoietic stem cells	blood

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