Variant report

Variant	rs192388250
Chromosome Location	chr1:154751982-154751983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154750548..154753894-chr1:154799055..154801414,3	K562	blood:
2	chr1:154750627..154752191-chr1:154767353..154769437,2	MCF-7	breast:
3	chr1:154749107..154752078-chr1:154759443..154761879,2	K562	blood:
4	chr1:154750500..154754364-chr1:154754876..154758244,3	K562	blood:

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	nsv872452	chr1:154750989-154769561	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154740800-154764000	Weak transcription	Right Ventricle	heart
2	chr1:154745000-154758200	Weak transcription	Colonic Mucosa	Colon
3	chr1:154746200-154759600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:154746600-154757400	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:154746600-154763800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:154747400-154757400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:154747800-154757000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:154748600-154752000	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:154748800-154760600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:154748800-154764000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:154749200-154752200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:154749200-154753400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:154749200-154757400	Weak transcription	Brain Anterior Caudate	brain
14	chr1:154749200-154759600	Weak transcription	Fetal Brain Female	brain
15	chr1:154749400-154752000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:154750000-154763800	Weak transcription	HSMMtube	muscle
17	chr1:154750200-154752000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:154750400-154757000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:154751000-154752200	Weak transcription	Thymus	Thymus
20	chr1:154751200-154752600	ZNF genes & repeats	Fetal Stomach	stomach
21	chr1:154751400-154752000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
22	chr1:154751400-154752000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr1:154751400-154752000	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr1:154751400-154752600	ZNF genes & repeats	GM12878-XiMat	blood
25	chr1:154751800-154752000	Enhancers	Brain Cingulate Gyrus	brain
26	chr1:154751800-154752600	Enhancers	Fetal Thymus	thymus
27	chr1:154751800-154753400	Enhancers	Cortex derived primary cultured neurospheres	brain

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