Variant report

Variant	rs57449872
Chromosome Location	chr1:212468350-212468351
allele	A/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	FOS	chr1:212468319-212468694	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr1:212468315-212468643	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr1:212468323-212468695	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr1:212468329-212468539	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr1:212468329-212468720	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr1:212468243-212468691	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr1:212468280-212468677	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr1:212468240-212468677	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:212458786..212460373-chr1:212467150..212468979,2	MCF-7	breast:
2	chr1:212467247..212471909-chr1:212472711..212476183,6	K562	blood:
3	chr1:212464978..212469431-chr1:212471345..212474474,8	K562	blood:

Variant related genes	Relation type
ENSG00000230063	TF binding region
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10863961	0.82[AFR][1000 genomes]
rs1342151	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56897309	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57547209	0.80[AFR][1000 genomes]
rs59424248	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6661045	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73080563	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73080567	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73082432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	esv1799093	chr1:212447167-212468974	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv1800932	chr1:212447167-212468974	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	esv1839997	chr1:212447167-212468974	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv873155	chr1:212449195-212502157	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	esv1839887	chr1:212457414-212478047	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212460200-212489200	Weak transcription	Spleen	Spleen
2	chr1:212461000-212469000	Enhancers	Brain Substantia Nigra	brain
3	chr1:212461000-212476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:212461600-212468800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:212461800-212470200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:212462000-212471200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr1:212462200-212468800	Enhancers	Brain Anterior Caudate	brain
8	chr1:212462200-212471000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:212462200-212471000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:212462400-212469000	Enhancers	Brain Cingulate Gyrus	brain
11	chr1:212462600-212471000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr1:212462800-212470000	Enhancers	Liver	Liver
13	chr1:212463600-212468800	Weak transcription	Thymus	Thymus
14	chr1:212463800-212471000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr1:212463800-212471000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:212464200-212471200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:212464200-212483000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:212464600-212473000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:212464800-212468600	Weak transcription	Gastric	stomach
20	chr1:212464800-212480200	Weak transcription	Lung	lung
21	chr1:212464800-212483800	Weak transcription	Pancreas	Pancrea
22	chr1:212464800-212506400	Weak transcription	Esophagus	oesophagus
23	chr1:212465000-212468800	Weak transcription	Colonic Mucosa	Colon
24	chr1:212465000-212469600	Enhancers	Adipose Nuclei	Adipose
25	chr1:212465000-212470400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:212465000-212474800	Weak transcription	Osteobl	bone
27	chr1:212465000-212480200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:212465200-212468400	Weak transcription	Hela-S3	cervix
29	chr1:212465400-212475000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:212465400-212482800	Weak transcription	Fetal Lung	lung
31	chr1:212465800-212483200	Weak transcription	Dnd41	blood
32	chr1:212466200-212468400	Enhancers	Primary T cells from cord blood	blood
33	chr1:212466200-212468400	Weak transcription	Right Atrium	heart
34	chr1:212466200-212468600	Weak transcription	Small Intestine	intestine
35	chr1:212466200-212470400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr1:212466200-212470600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:212466200-212473000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr1:212466200-212506400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:212466400-212468600	Weak transcription	Aorta	Aorta
40	chr1:212466400-212470200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:212466600-212479400	Weak transcription	NHEK	skin
42	chr1:212466600-212482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:212466600-212503000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:212466800-212469000	Enhancers	Fetal Heart	heart
45	chr1:212466800-212470000	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr1:212467000-212468800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:212467000-212472800	Weak transcription	Primary B cells from cord blood	blood
48	chr1:212467000-212473400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:212467000-212480800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:212467200-212469000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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