Variant report

Variant	rs56394427
Chromosome Location	chr1:150554041-150554042
allele	G/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	POLR2A	chr1:150553957-150554094	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150538995..150557554-chr1:150581886..150604495,126	K562	blood:
2	chr1:150548752..150555486-chr1:150599368..150605834,15	MCF-7	breast:
3	chr1:150550164..150555275-chr1:150782862..150788394,7	MCF-7	breast:
4	chr1:150550535..150554049-chr1:150976755..150981799,6	K562	blood:

Variant related genes	Relation type
MCL1	TF binding region
ENSG00000143409	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000200175	Chromatin interaction
ENSG00000143363	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10305694	1.00[AMR][1000 genomes]
rs35900369	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv535155	chr1:150535349-150582395	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
3	nsv535156	chr1:150540117-150575941	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
4	nsv535157	chr1:150552692-150575941	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150552800-150554200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr1:150553000-150554800	Weak transcription	Primary T cells from cord blood	blood
3	chr1:150553000-150555000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:150553000-150555400	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:150553000-150555600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:150553000-150556000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:150553000-150557000	Weak transcription	Fetal Stomach	stomach
8	chr1:150553000-150557200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:150553000-150559200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:150553000-150560600	Weak transcription	Right Atrium	heart
11	chr1:150553000-150562600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:150553000-150572800	Weak transcription	Thymus	Thymus
13	chr1:150553000-150583200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:150553200-150554200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:150553200-150554600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:150553200-150554600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:150553200-150554800	Weak transcription	Primary B cells from cord blood	blood
18	chr1:150553200-150554800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:150553200-150554800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:150553200-150554800	Weak transcription	Osteobl	bone
21	chr1:150553200-150555000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:150553200-150555000	Weak transcription	HepG2	liver
23	chr1:150553200-150555200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr1:150553200-150555400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:150553200-150555400	Weak transcription	Placenta	Placenta
26	chr1:150553200-150558200	Weak transcription	Right Ventricle	heart
27	chr1:150553200-150564200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:150553200-150566000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:150553200-150568400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:150553200-150569400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:150553200-150569400	Weak transcription	Fetal Thymus	thymus
32	chr1:150553200-150572600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:150553200-150572600	Weak transcription	Fetal Brain Female	brain
34	chr1:150553200-150572800	Weak transcription	Brain Angular Gyrus	brain
35	chr1:150553200-150577600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:150553200-150581800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:150553200-150581800	Weak transcription	Dnd41	blood
38	chr1:150553200-150583200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:150553200-150592000	Weak transcription	Fetal Kidney	kidney
40	chr1:150553400-150554400	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr1:150553400-150554800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:150553400-150556400	Weak transcription	Fetal Intestine Small	intestine
43	chr1:150553800-150554200	Enhancers	Gastric	stomach
44	chr1:150553800-150554200	Enhancers	Psoas Muscle	Psoas
45	chr1:150553800-150554400	Enhancers	Primary T cells fromperipheralblood	blood
46	chr1:150553800-150554800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:150553800-150554800	Enhancers	Pancreas	Pancrea
48	chr1:150553800-150568000	Weak transcription	HSMM	muscle
49	chr1:150553800-150572600	Weak transcription	Lung	lung
50	chr1:150553800-150576800	Weak transcription	Colon Smooth Muscle	Colon

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