Variant report

Variant	rs547954218
Chromosome Location	chr1:154745784-154745785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154743914..154746256-chr1:154842086..154843825,2	MCF-7	breast:
2	chr1:154744584..154747460-chr1:154748764..154751620,2	K562	blood:
3	chr1:154745091..154747433-chr1:154836698..154838219,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143603	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
3	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS 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	18 gene(s)	inside rSNPs	diseases
5	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv3362664	chr1:154745128-154748426	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154733400-154746400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:154740400-154746000	Weak transcription	Brain Germinal Matrix	brain
3	chr1:154740400-154747600	Weak transcription	Fetal Brain Male	brain
4	chr1:154740800-154746000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:154740800-154746200	Weak transcription	Brain Angular Gyrus	brain
6	chr1:154740800-154764000	Weak transcription	Right Ventricle	heart
7	chr1:154741400-154746200	Weak transcription	Brain Substantia Nigra	brain
8	chr1:154741400-154746600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:154741800-154745800	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:154741800-154746000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:154742200-154751400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:154743600-154745800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr1:154743800-154746000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:154744400-154745800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:154744400-154746200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:154744400-154746200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:154744600-154745800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:154744600-154745800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:154744800-154745800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:154744800-154746000	Weak transcription	GM12878-XiMat	blood
21	chr1:154744800-154746400	Weak transcription	Spleen	Spleen
22	chr1:154744800-154747200	Weak transcription	Fetal Brain Female	brain
23	chr1:154744800-154749200	Enhancers	Brain Anterior Caudate	brain
24	chr1:154744800-154749400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:154745000-154745800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:154745000-154745800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:154745000-154745800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:154745000-154746000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:154745000-154746600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:154745000-154758200	Weak transcription	Colonic Mucosa	Colon
31	chr1:154745200-154748200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:154745200-154750600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:154745600-154745800	Enhancers	Thymus	Thymus
34	chr1:154745600-154746600	Enhancers	Pancreas	Pancrea
35	chr1:154745600-154746600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr1:154745600-154747200	Enhancers	Brain Hippocampus Middle	brain
37	chr1:154745600-154747800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr1:154745600-154748200	Enhancers	Fetal Muscle Trunk	muscle
39	chr1:154745600-154748600	Enhancers	Fetal Stomach	stomach
40	chr1:154745600-154749200	Enhancers	Fetal Muscle Leg	muscle

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