Variant report

Variant	rs554959794
Chromosome Location	chr1:241787593-241787594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:241786961..241788680-chr1:241796584..241798820,2	MCF-7	breast:
2	chr1:241776774..241781436-chr1:241786903..241791805,5	MCF-7	breast:
3	chr1:241785761..241788632-chr1:241996400..241998922,2	MCF-7	breast:
4	chr1:241787457..241789685-chr1:241965733..241967944,2	K562	blood:
5	chr1:241787070..241789418-chr1:242025979..242027637,2	K562	blood:
6	chr1:241787560..241792499-chr1:241801954..241804865,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054277	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv549460	chr1:241494578-241833287	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1009579	chr1:241499537-241824631	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv530112	chr1:241522031-241840269	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
9	nsv427963	chr1:241718799-241832833	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv159993	chr1:241787545-241787608	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241753400-241791200	Weak transcription	Thymus	Thymus
2	chr1:241756000-241791000	Weak transcription	Fetal Thymus	thymus
3	chr1:241758000-241790800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:241758000-241797200	Weak transcription	Left Ventricle	heart
5	chr1:241758000-241800200	Weak transcription	Ovary	ovary
6	chr1:241758800-241802400	Weak transcription	Right Ventricle	heart
7	chr1:241759000-241790600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:241766200-241798600	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:241767800-241788600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:241767800-241790600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:241768000-241787600	Weak transcription	Primary T cells from cord blood	blood
12	chr1:241768000-241791000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:241775200-241791400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:241776400-241788400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:241776400-241790800	Weak transcription	K562	blood
16	chr1:241776400-241791200	Weak transcription	HSMMtube	muscle
17	chr1:241776400-241795000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:241776400-241795200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:241776400-241795800	Weak transcription	Hela-S3	cervix
20	chr1:241776400-241797400	Weak transcription	NHLF	lung
21	chr1:241776800-241788000	Weak transcription	NHEK	skin
22	chr1:241776800-241790800	Weak transcription	HUVEC	blood vessel
23	chr1:241779200-241790600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:241779400-241790600	Weak transcription	NH-A	brain
25	chr1:241779400-241791400	Weak transcription	HSMM	muscle
26	chr1:241779400-241798600	Weak transcription	Fetal Intestine Large	intestine
27	chr1:241779400-241800400	Weak transcription	Osteobl	bone
28	chr1:241779400-241800600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:241779400-241801000	Weak transcription	Fetal Intestine Small	intestine
30	chr1:241779600-241789000	Weak transcription	Pancreas	Pancrea
31	chr1:241779600-241790800	Weak transcription	HMEC	breast
32	chr1:241779600-241796600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:241779800-241795200	Weak transcription	Placenta	Placenta
34	chr1:241781200-241789400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:241781200-241799800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:241783200-241787800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:241783400-241798000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:241783800-241788000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:241783800-241791200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:241784000-241791200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:241784200-241791000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:241784400-241800600	Weak transcription	Fetal Brain Male	brain
43	chr1:241784800-241789000	Enhancers	Fetal Heart	heart
44	chr1:241785000-241788000	Strong transcription	A549	lung
45	chr1:241785200-241788000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr1:241785200-241798800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:241785400-241788000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:241785400-241797200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:241785600-241787800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr1:241785600-241788000	Weak transcription	Primary B cells from cord blood	blood

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