Variant report

Variant	rs577827152
Chromosome Location	chr1:228673859-228673860
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	RFX5	chr1:228673704-228675743	IMR90	lung:	n/a	chr1:228674183-228674198
2	POLR2A	chr1:228673803-228676876	HepG2	liver:	n/a	n/a
3	GTF3C2	chr1:228673808-228674638	Hela-S3	cervix:	n/a	n/a
4	MYC	chr1:228673552-228673897	K562	blood:	n/a	n/a
5	RPC155	chr1:228673810-228674515	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr1:228673646-228673960	K562	blood:	n/a	chr1:228673806-228673817 chr1:228673804-228673817
7	JUN	chr1:228672601-228678958	K562	blood:	n/a	chr1:228677697-228677705 chr1:228678292-228678303

No.	Distal block	Cell Line	Cell type
1	chr1:11967567..11969704-chr1:228673208..228675906,2	MCF-7	breast:
2	chr1:228642342..228647806-chr1:228672380..228678428,13	MCF-7	breast:
3	chr1:228671614..228676496-chr1:228676543..228681096,6	MCF-7	breast:
4	chr1:228672968..228678350-chr1:228679226..228685848,20	MCF-7	breast:
5	chr1:228643230..228649256-chr1:228671672..228678578,15	MCF-7	breast:
6	chr1:228673229..228674751-chr9:33024497..33026836,2	MCF-7	breast:
7	chr1:228321585..228323850-chr1:228673376..228675624,2	K562	blood:

Variant related genes	Relation type
RNF187	TF binding region
ENSG00000181218	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000168159	Chromatin interaction
ENSG00000137074	Chromatin interaction
ENSG00000227625	Chromatin interaction
ENSG00000196890	Chromatin interaction
ENSG00000086061	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
5	nsv873270	chr1:228442663-228699477	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv1009891	chr1:228450763-228742676	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv517545	chr1:228456147-228685999	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
8	nsv1013500	chr1:228459134-228849601	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
9	nsv873279	chr1:228494790-228681195	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	esv1808261	chr1:228509427-228674518	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	esv2829948	chr1:228509427-228687948	Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
12	nsv549296	chr1:228585837-228720480	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
13	esv3417507	chr1:228673529-228677127	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228667400-228674000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:228667600-228674000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr1:228667800-228674000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:228668000-228674000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:228672800-228674000	Enhancers	HUVEC	blood vessel
6	chr1:228673000-228674000	Enhancers	Liver	Liver
7	chr1:228673000-228674000	Enhancers	NHDF-Ad	bronchial
8	chr1:228673200-228674000	Enhancers	Fetal Lung	lung
9	chr1:228673400-228674000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:228673400-228674000	Enhancers	Adipose Nuclei	Adipose
11	chr1:228673400-228674000	Weak transcription	Stomach Mucosa	stomach
12	chr1:228673600-228674000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:228673600-228674000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:228673600-228674000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr1:228673600-228674000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:228673600-228674000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:228673600-228674000	Enhancers	Esophagus	oesophagus
18	chr1:228673600-228674000	Enhancers	Gastric	stomach
19	chr1:228673600-228674000	Enhancers	Lung	lung
20	chr1:228673600-228674000	Enhancers	Pancreas	Pancrea
21	chr1:228673600-228674000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:228673600-228674000	Active TSS	Stomach Smooth Muscle	stomach
23	chr1:228673600-228674000	Enhancers	Spleen	Spleen
24	chr1:228673600-228674200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:228673600-228674600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:228673600-228675800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:228673600-228675800	Active TSS	K562	blood
28	chr1:228673600-228676000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:228673600-228676000	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr1:228673600-228676000	Active TSS	A549	lung
31	chr1:228673600-228676000	Active TSS	Hela-S3	cervix
32	chr1:228673600-228676200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr1:228673800-228674000	Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr1:228673800-228674000	Enhancers	Primary B cells from cord blood	blood
35	chr1:228673800-228674000	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr1:228673800-228674000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:228673800-228674000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr1:228673800-228674000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr1:228673800-228674000	Enhancers	Colonic Mucosa	Colon
40	chr1:228673800-228674000	Flanking Active TSS	Fetal Brain Female	brain
41	chr1:228673800-228674000	Enhancers	Fetal Intestine Small	intestine
42	chr1:228673800-228674000	Active TSS	Dnd41	blood
43	chr1:228673800-228674000	Active TSS	HMEC	breast
44	chr1:228673800-228674000	Flanking Active TSS	Osteobl	bone
45	chr1:228673800-228674200	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr1:228673800-228674200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:228673800-228674200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:228673800-228674200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:228673800-228674200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr1:228673800-228674200	Flanking Active TSS	Fetal Muscle Trunk	muscle

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