Variant report

Variant	rs149813845
Chromosome Location	chr1:175162776-175162777
allele	C/G
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	CTBP2	chr1:175161323-175163077	H1-hESC	embryonic stem cell:	n/a	n/a
2	SMARCC1	chr1:175161173-175163079	Hela-S3	cervix:	n/a	n/a
3	IRF1	chr1:175160797-175162815	K562	blood:	n/a	chr1:175161058-175161071 chr1:175161058-175161072 chr1:175161057-175161071 chr1:175162259-175162273 chr1:175161053-175161067 chr1:175161057-175161077 chr1:175161059-175161073 chr1:175161338-175161351 chr1:175161051-175161071 chr1:175161058-175161071 chr1:175161057-175161070 chr1:175161053-175161070 chr1:175161055-175161069 chr1:175161059-175161069
4	FOS	chr1:175162713-175163008	MCF10A-Er-Src	breast:	n/a	n/a
5	ZNF263	chr1:175160625-175163127	HEK293-T-REx	kidney:	n/a	chr1:175160916-175160925
6	POLR2A	chr1:175160872-175162810	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT1	chr1:175161083-175163061	Hela-S3	cervix:	n/a	chr1:175162373-175162382 chr1:175162441-175162452 chr1:175162443-175162452 chr1:175162442-175162451 chr1:175162372-175162381 chr1:175162409-175162420 chr1:175162259-175162271
8	POLR2A	chr1:175160620-175163581	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F6	chr1:175161965-175162951	H1-hESC	embryonic stem cell:	n/a	chr1:175162263-175162272 chr1:175162260-175162272 chr1:175162225-175162236 chr1:175162238-175162249
10	MYC	chr1:175161995-175162921	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr1:175161324-175163163	K562	blood:	n/a	n/a
12	SMARCB1	chr1:175161292-175163080	Hela-S3	cervix:	n/a	n/a
13	MAX	chr1:175162450-175163032	H1-hESC	embryonic stem cell:	n/a	n/a
14	STAT3	chr1:175162108-175162913	MCF10A-Er-Src	breast:	n/a	chr1:175162373-175162382 chr1:175162441-175162452 chr1:175162443-175162452 chr1:175162442-175162451 chr1:175162372-175162381 chr1:175162259-175162271 chr1:175162409-175162420
15	SIN3A	chr1:175160857-175162830	H1-hESC	embryonic stem cell:	n/a	chr1:175162635-175162643 chr1:175162633-175162642
16	E2F6	chr1:175161490-175163008	K562	blood:	n/a	chr1:175162263-175162272 chr1:175162260-175162272 chr1:175162225-175162236 chr1:175162238-175162249
17	STAT3	chr1:175162061-175162933	MCF10A-Er-Src	breast:	n/a	chr1:175162373-175162382 chr1:175162441-175162452 chr1:175162443-175162452 chr1:175162442-175162451 chr1:175162372-175162381 chr1:175162259-175162271 chr1:175162409-175162420
18	ZEB1	chr1:175162708-175163129	GM12878	blood:	n/a	n/a
19	MYC	chr1:175162381-175163725	MCF10A-Er-Src	breast:	n/a	chr1:175163159-175163172 chr1:175163159-175163172 chr1:175163160-175163170 chr1:175163160-175163171 chr1:175163159-175163172 chr1:175163160-175163171 chr1:175163161-175163170 chr1:175163160-175163170 chr1:175163161-175163170 chr1:175163160-175163171 chr1:175163159-175163172 chr1:175163161-175163171 chr1:175163161-175163170 chr1:175163160-175163169 chr1:175163161-175163171 chr1:175163160-175163171
20	FOS	chr1:175162725-175163000	MCF10A-Er-Src	breast:	n/a	n/a
21	BHLHE40	chr1:175161449-175163027	K562	blood:	n/a	n/a
22	STAT3	chr1:175162076-175163008	MCF10A-Er-Src	breast:	n/a	chr1:175162373-175162382 chr1:175162441-175162452 chr1:175162443-175162452 chr1:175162442-175162451 chr1:175162372-175162381 chr1:175162259-175162271 chr1:175162409-175162420
23	STAT3	chr1:175162228-175162965	MCF10A-Er-Src	breast:	n/a	chr1:175162373-175162382 chr1:175162441-175162452 chr1:175162443-175162452 chr1:175162442-175162451 chr1:175162372-175162381 chr1:175162259-175162271 chr1:175162409-175162420
24	FOS	chr1:175162717-175163007	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175152638..175154572-chr1:175162288..175163836,2	K562	blood:
2	chr1:175162286..175164417-chr1:175190945..175192662,2	MCF-7	breast:

Variant related genes	Relation type
KIAA0040	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv949473	chr1:175151666-175391741	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv15667	chr1:175161934-175163375	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175158400-175162800	Active TSS	Rectal Smooth Muscle	rectum
2	chr1:175160600-175163000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr1:175160600-175163200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr1:175160800-175162800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:175160800-175162800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:175160800-175163000	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr1:175161000-175162800	Active TSS	Colon Smooth Muscle	Colon
8	chr1:175161200-175162800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr1:175161400-175162800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr1:175161600-175162800	Active TSS	Brain Anterior Caudate	brain
11	chr1:175161800-175162800	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr1:175161800-175162800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:175162000-175162800	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr1:175162000-175162800	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr1:175162200-175162800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:175162200-175162800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:175162200-175162800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr1:175162200-175162800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:175162200-175163000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr1:175162200-175163000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr1:175162200-175163000	Enhancers	HSMMtube	muscle
22	chr1:175162200-175166400	Weak transcription	Spleen	Spleen
23	chr1:175162400-175162800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:175162400-175162800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:175162400-175162800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:175162400-175162800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:175162400-175162800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr1:175162400-175162800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:175162400-175162800	Flanking Active TSS	Liver	Liver
30	chr1:175162400-175162800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr1:175162400-175162800	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr1:175162400-175162800	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr1:175162400-175162800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr1:175162400-175162800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr1:175162400-175162800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr1:175162400-175162800	Bivalent/Poised TSS	A549	lung
37	chr1:175162400-175162800	Flanking Active TSS	K562	blood
38	chr1:175162400-175162800	Flanking Active TSS	Osteobl	bone
39	chr1:175162400-175163000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:175162400-175163000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr1:175162400-175163000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr1:175162400-175163000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:175162400-175163000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:175162400-175163000	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr1:175162400-175163000	Weak transcription	Small Intestine	intestine
46	chr1:175162400-175163000	Flanking Active TSS	Hela-S3	cervix
47	chr1:175162400-175163200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr1:175162400-175168000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:175162600-175162800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
50	chr1:175162600-175162800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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