Variant report

Variant	rs193264197
Chromosome Location	chr1:228592790-228592791
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	MAZ	chr1:228592699-228596257	IMR90	lung:	n/a	chr1:228593838-228593848 chr1:228593059-228593068
2	POLR2A	chr1:228591660-228593373	K562	blood:	n/a	n/a
3	TEAD4	chr1:228592678-228593679	K562	blood:	n/a	n/a
4	ZNF263	chr1:228592754-228595231	HEK293-T-REx	kidney:	n/a	chr1:228594275-228594284
5	STAT3	chr1:228592499-228592871	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:228400118..228403034-chr1:228591844..228593875,2	MCF-7	breast:
2	chr1:228592366..228594573-chr1:228675027..228676697,3	MCF-7	breast:
3	chr1:228353118..228354912-chr1:228591904..228594294,2	MCF-7	breast:
4	chr1:228589639..228603795-chr1:228638211..228648676,43	MCF-7	breast:
5	chr1:228585219..228604537-chr1:228641966..228650471,45	MCF-7	breast:
6	chr1:228566215..228567765-chr1:228591575..228593345,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231563	TF binding region
TRIM11	TF binding region
ENSG00000203684	Chromatin interaction
ENSG00000196890	Chromatin interaction
ENSG00000266174	Chromatin interaction
ENSG00000181218	Chromatin interaction
ENSG00000162913	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000168159	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 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	nsv468271	chr1:228464248-228601638	Bivalent Enhancer Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv468283	chr1:228464248-228601638	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv468294	chr1:228464248-228601638	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv549295	chr1:228464248-228601638	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS 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
14	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
15	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
16	nsv873280	chr1:228500627-228603029	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	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
18	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
19	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
20	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
21	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
22	esv3362220	chr1:228592754-228595502	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228567000-228592800	Weak transcription	Fetal Kidney	kidney
2	chr1:228581200-228592800	Weak transcription	Psoas Muscle	Psoas
3	chr1:228584200-228592800	Weak transcription	HSMMtube	muscle
4	chr1:228588200-228592800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:228588800-228592800	Weak transcription	Aorta	Aorta
6	chr1:228588800-228593000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:228590200-228593000	Genic enhancers	Spleen	Spleen
8	chr1:228590600-228593000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:228590800-228592800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:228590800-228593000	Enhancers	Right Ventricle	heart
11	chr1:228591000-228592800	Genic enhancers	Fetal Muscle Leg	muscle
12	chr1:228591000-228593000	Enhancers	Esophagus	oesophagus
13	chr1:228591200-228593200	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:228591200-228593200	Enhancers	Small Intestine	intestine
15	chr1:228591600-228592800	Enhancers	Colon Smooth Muscle	Colon
16	chr1:228591600-228592800	Enhancers	Fetal Brain Male	brain
17	chr1:228591600-228593000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:228591600-228593200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
19	chr1:228591600-228593600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr1:228591600-228593600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr1:228591600-228593600	Transcr. at gene 5' and 3'	Dnd41	blood
22	chr1:228591800-228592800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:228591800-228592800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:228591800-228592800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:228591800-228592800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr1:228591800-228592800	Enhancers	Adipose Nuclei	Adipose
27	chr1:228591800-228592800	Enhancers	Brain Angular Gyrus	brain
28	chr1:228591800-228592800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr1:228591800-228593000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr1:228591800-228593000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:228591800-228593000	Enhancers	Liver	Liver
32	chr1:228591800-228593000	Enhancers	Brain Substantia Nigra	brain
33	chr1:228591800-228593000	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr1:228591800-228593000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr1:228591800-228593000	Enhancers	Stomach Mucosa	stomach
36	chr1:228591800-228593000	Flanking Active TSS	HepG2	liver
37	chr1:228591800-228593200	Flanking Active TSS	Hela-S3	cervix
38	chr1:228591800-228593200	Transcr. at gene 5' and 3'	K562	blood
39	chr1:228591800-228593200	Transcr. at gene 5' and 3'	NHEK	skin
40	chr1:228591800-228593400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:228591800-228593600	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr1:228592000-228592800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr1:228592000-228592800	Enhancers	Brain Anterior Caudate	brain
44	chr1:228592000-228592800	Enhancers	Brain Cingulate Gyrus	brain
45	chr1:228592000-228592800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:228592000-228593000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
47	chr1:228592000-228593000	Enhancers	Placenta	Placenta
48	chr1:228592000-228593000	Genic enhancers	Fetal Stomach	stomach
49	chr1:228592000-228593000	Enhancers	Right Atrium	heart
50	chr1:228592000-228593000	Enhancers	Skeletal Muscle Male	skeletal muscle

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