Variant report

Variant	rs577441613
Chromosome Location	chr1:228603804-228603805
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	POLR2A	chr1:228603532-228603848	ProgFib	skin:	n/a	n/a
2	POLR2A	chr1:228603699-228603878	SK-N-SH	brain:	n/a	n/a
3	MTA3	chr1:228603353-228604141	GM12878	blood:	n/a	n/a
4	MAX	chr1:228603787-228604364	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:228603401-228604029	K562	blood:	n/a	n/a
6	POLR2A	chr1:228603423-228603892	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:228603329-228604380	PANC-1	pancreas:	n/a	n/a
8	CTCF	chr1:228603720-228603870	GM12868	blood:	n/a	n/a
9	GABPA	chr1:228603803-228604355	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F6	chr1:228603804-228604456	H1-hESC	embryonic stem cell:	n/a	chr1:228604216-228604225 chr1:228603924-228603934 chr1:228604131-228604143 chr1:228604395-228604405 chr1:228604408-228604417
11	MXI1	chr1:228603223-228605202	SK-N-SH	brain:	n/a	chr1:228603755-228603770
12	POLR2A	chr1:228603340-228604315	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:228603788-228604386	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr1:228603460-228604521	SK-N-SH	brain:	n/a	chr1:228604197-228604218
15	SIN3A	chr1:228603730-228604261	H1-hESC	embryonic stem cell:	n/a	chr1:228603994-228604007
16	POLR2A	chr1:228603238-228603902	SK-N-MC	brain:	n/a	n/a
17	MXI1	chr1:228603424-228604115	H1-hESC	embryonic stem cell:	n/a	chr1:228603755-228603770
18	POLR2A	chr1:228603345-228603901	K562	blood:	n/a	n/a
19	BACH1	chr1:228603651-228604322	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:228603412-228603814	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:228585219..228604537-chr1:228641966..228650471,45	MCF-7	breast:

Variant related genes	Relation type
TRIM17	TF binding region
ENSG00000181218	Chromatin interaction
ENSG00000266174	Chromatin interaction
ENSG00000196890	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	nsv470780	chr1:228464248-228606965	Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	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
12	nsv873281	chr1:228505739-228656780	Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
13	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
14	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
15	nsv508697	chr1:228540037-228622614	Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
16	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
17	esv3325014	chr1:228603354-228605902	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv3430608	chr1:228603354-228605902	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228596400-228615400	Weak transcription	A549	lung
2	chr1:228603000-228604000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:228603000-228605400	Enhancers	Lung	lung
4	chr1:228603400-228604000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
5	chr1:228603400-228604000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:228603400-228604000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr1:228603400-228604000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
8	chr1:228603400-228604000	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
9	chr1:228603400-228604000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
10	chr1:228603400-228604200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr1:228603400-228604200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:228603400-228604200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:228603400-228604200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:228603400-228604200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
15	chr1:228603400-228604200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
16	chr1:228603400-228604400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:228603400-228604400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
18	chr1:228603400-228604400	Bivalent Enhancer	Fetal Thymus	thymus
19	chr1:228603400-228605000	Enhancers	Gastric	stomach
20	chr1:228603600-228604000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:228603600-228604000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:228603600-228604000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr1:228603600-228604000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
24	chr1:228603600-228604000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:228603600-228604000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr1:228603600-228604000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr1:228603600-228604000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
28	chr1:228603600-228604000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
29	chr1:228603600-228604000	Flanking Active TSS	Ovary	ovary
30	chr1:228603600-228604000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
31	chr1:228603600-228604000	Flanking Bivalent TSS/Enh	NHEK	skin
32	chr1:228603600-228604000	Bivalent Enhancer	NHLF	lung
33	chr1:228603600-228604000	Flanking Bivalent TSS/Enh	Osteobl	bone
34	chr1:228603600-228604200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:228603600-228604200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr1:228603600-228604200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:228603600-228604200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:228603600-228604200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:228603600-228604200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:228603600-228604200	Bivalent Enhancer	Liver	Liver
41	chr1:228603600-228604200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
42	chr1:228603600-228604200	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
43	chr1:228603600-228604200	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
44	chr1:228603600-228604200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
45	chr1:228603600-228604200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr1:228603600-228604200	Flanking Bivalent TSS/Enh	Placenta	Placenta
47	chr1:228603600-228604200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr1:228603600-228604200	Flanking Active TSS	HepG2	liver
49	chr1:228603600-228604400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr1:228603600-228604400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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