Variant report

Variant	rs187303421
Chromosome Location	chr1:147014643-147014644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:147012761..147015831-chr1:147068894..147072363,4	MCF-7	breast:
2	chr1:147008733..147014706-chr1:147069097..147075030,9	MCF-7	breast:
3	chr1:147004459..147006427-chr1:147014371..147016886,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116128	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	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
3	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers 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 target site	110 gene(s)	inside rSNPs	diseases
4	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
7	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
8	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
9	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
10	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
11	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv1012331	chr1:146603479-147384720	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
15	nsv535131	chr1:146603479-147384720	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
16	nsv1004849	chr1:146661516-147286826	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
17	nsv535135	chr1:146661516-147286826	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS 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	44 gene(s)	inside rSNPs	diseases
18	nsv534063	chr1:146807433-147381411	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
19	nsv831414	chr1:146884994-147083866	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv1001868	chr1:146893791-147389944	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
21	nsv482606	chr1:146959127-147134517	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
22	nsv946308	chr1:147013512-147039086	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 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	chr1:147012000-147014800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:147012000-147015000	Active TSS	Fetal Kidney	kidney
3	chr1:147012200-147014800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr1:147012400-147014800	Active TSS	Aorta	Aorta
5	chr1:147012400-147014800	Active TSS	Right Atrium	heart
6	chr1:147012400-147015000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:147012400-147015000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:147012400-147015200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:147012400-147015200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:147012400-147015200	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr1:147012600-147014800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:147012600-147015200	Active TSS	Ovary	ovary
13	chr1:147012800-147014800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:147012800-147014800	Active TSS	Brain Hippocampus Middle	brain
15	chr1:147012800-147014800	Active TSS	Colon Smooth Muscle	Colon
16	chr1:147012800-147014800	Active TSS	Thymus	Thymus
17	chr1:147012800-147014800	Active TSS	NHLF	lung
18	chr1:147012800-147015000	Active TSS	Brain Cingulate Gyrus	brain
19	chr1:147012800-147015000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr1:147012800-147015000	Active TSS	Fetal Intestine Large	intestine
21	chr1:147012800-147015000	Active TSS	Fetal Intestine Small	intestine
22	chr1:147012800-147015000	Active TSS	Fetal Lung	lung
23	chr1:147012800-147015000	Active TSS	Fetal Stomach	stomach
24	chr1:147012800-147015400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:147012800-147015600	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr1:147012800-147015600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:147012800-147015800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:147012800-147015800	Active TSS	Rectal Smooth Muscle	rectum
29	chr1:147013000-147015000	Active TSS	Fetal Muscle Leg	muscle
30	chr1:147013000-147015400	Active TSS	Stomach Smooth Muscle	stomach
31	chr1:147013200-147014800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr1:147013200-147015000	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr1:147013200-147015000	Active TSS	Fetal Brain Male	brain
34	chr1:147013200-147015200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:147013400-147017600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr1:147013800-147015000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:147013800-147015600	Active TSS	Brain Germinal Matrix	brain
38	chr1:147014000-147014800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:147014000-147014800	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr1:147014000-147014800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr1:147014000-147015800	Weak transcription	Spleen	Spleen
42	chr1:147014000-147017600	Enhancers	Dnd41	blood
43	chr1:147014200-147014800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr1:147014200-147014800	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr1:147014200-147014800	Enhancers	Liver	Liver
46	chr1:147014200-147014800	Active TSS	Fetal Brain Female	brain
47	chr1:147014200-147015000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:147014200-147015200	Active TSS	H1 Cell Line	embryonic stem cell
49	chr1:147014200-147015200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
50	chr1:147014200-147015600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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