Variant report

Variant	rs112030016
Chromosome Location	chr1:226003171-226003172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225996256..225999661-chr1:226002108..226005312,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143819	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	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv947519	chr1:225998770-226034631	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv7173	chr1:226002662-226003351	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3321274	chr1:226002679-226003307	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv3513453	chr1:226002710-226003337	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv3513449	chr1:226002715-226003223	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv3321275	chr1:226002737-226003212	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv3513448	chr1:226002744-226003278	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv3513450	chr1:226002760-226003276	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv3321272	chr1:226002762-226003301	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 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	chr1:225998400-226007800	Enhancers	Spleen	Spleen
2	chr1:225998600-226005600	Enhancers	Stomach Mucosa	stomach
3	chr1:225999200-226004800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:225999200-226006400	Enhancers	Lung	lung
5	chr1:225999200-226006600	Enhancers	Psoas Muscle	Psoas
6	chr1:225999400-226004600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:225999400-226004800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:225999400-226006600	Enhancers	Right Ventricle	heart
9	chr1:225999400-226007800	Enhancers	Left Ventricle	heart
10	chr1:225999600-226003600	Enhancers	Brain Angular Gyrus	brain
11	chr1:225999600-226003800	Enhancers	Pancreas	Pancrea
12	chr1:225999600-226005200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:225999600-226006400	Enhancers	Brain Cingulate Gyrus	brain
14	chr1:225999800-226004400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:225999800-226006400	Enhancers	Brain Hippocampus Middle	brain
16	chr1:226000000-226003400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:226000000-226003400	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr1:226000000-226005400	Weak transcription	Thymus	Thymus
19	chr1:226000000-226006600	Enhancers	Brain Substantia Nigra	brain
20	chr1:226000000-226019400	Weak transcription	Fetal Brain Female	brain
21	chr1:226000200-226006400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:226000400-226004400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:226000400-226007400	Enhancers	Brain Anterior Caudate	brain
24	chr1:226000400-226015800	Enhancers	Ovary	ovary
25	chr1:226000600-226004400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:226001000-226004000	Weak transcription	Fetal Brain Male	brain
27	chr1:226001000-226004400	Weak transcription	Fetal Heart	heart
28	chr1:226001400-226003600	Enhancers	Right Atrium	heart
29	chr1:226001400-226004200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:226001400-226005000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:226001400-226005200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:226001400-226005400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:226001600-226003400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:226001600-226003400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:226001600-226003800	Enhancers	K562	blood
36	chr1:226001600-226004200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:226001600-226004200	Enhancers	Liver	Liver
38	chr1:226001600-226004200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr1:226001600-226004200	Weak transcription	HSMM	muscle
40	chr1:226001600-226004400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:226001600-226004400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:226001600-226004400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:226001600-226004400	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr1:226001600-226004400	Weak transcription	NH-A	brain
45	chr1:226001600-226004600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr1:226001600-226005000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:226001600-226005000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:226001600-226005000	Weak transcription	HUVEC	blood vessel
49	chr1:226001800-226003400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:226001800-226003400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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