Variant report

Variant	rs28498299
Chromosome Location	chr1:150736800-150736801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150550688..150552369-chr1:150735871..150738707,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143384	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10305668	1.00[ASN][1000 genomes]
rs10788796	1.00[ASN][1000 genomes]
rs11204732	1.00[ASN][1000 genomes]
rs13376166	1.00[ASN][1000 genomes]
rs267727	1.00[ASN][1000 genomes]
rs267728	1.00[ASN][1000 genomes]
rs28675769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4970975	1.00[ASN][1000 genomes]
rs6587538	1.00[ASN][1000 genomes]
rs6661777	1.00[ASN][1000 genomes]
rs7533914	1.00[ASN][1000 genomes]
rs796407	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872417	chr1:150618632-150759979	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv872419	chr1:150699199-150738759	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv1008381	chr1:150721254-150745558	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150712000-150737800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:150716600-150737000	Weak transcription	Pancreas	Pancrea
3	chr1:150720600-150737800	Weak transcription	Brain Substantia Nigra	brain
4	chr1:150722400-150737000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:150723000-150738000	Weak transcription	Right Ventricle	heart
6	chr1:150724400-150737800	Weak transcription	Aorta	Aorta
7	chr1:150727800-150737000	Weak transcription	Thymus	Thymus
8	chr1:150729200-150737600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:150729800-150737000	Weak transcription	Spleen	Spleen
10	chr1:150730800-150738000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:150732200-150737200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
12	chr1:150732400-150737400	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
13	chr1:150734000-150737000	Weak transcription	Fetal Intestine Small	intestine
14	chr1:150734400-150737000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr1:150734600-150737000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr1:150734600-150737200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:150734600-150737600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr1:150734800-150738400	Active TSS	GM12878-XiMat	blood
19	chr1:150735000-150737000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:150735000-150737000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr1:150735200-150737000	Weak transcription	NHLF	lung
22	chr1:150735600-150738600	Active TSS	Rectal Smooth Muscle	rectum
23	chr1:150735800-150737800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:150736200-150736800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
25	chr1:150736200-150736800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr1:150736200-150736800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:150736200-150736800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:150736200-150737000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr1:150736200-150737000	Active TSS	Liver	Liver
30	chr1:150736200-150737000	Enhancers	Fetal Lung	lung
31	chr1:150736200-150737000	Enhancers	Gastric	stomach
32	chr1:150736200-150737000	Enhancers	Hela-S3	cervix
33	chr1:150736200-150737000	Enhancers	HUVEC	blood vessel
34	chr1:150736200-150737000	Enhancers	K562	blood
35	chr1:150736200-150737200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:150736200-150737200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr1:150736200-150737200	Enhancers	Small Intestine	intestine
38	chr1:150736200-150737400	Enhancers	Fetal Thymus	thymus
39	chr1:150736200-150737400	Enhancers	Lung	lung
40	chr1:150736200-150737800	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr1:150736200-150737800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr1:150736200-150737800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:150736200-150738400	Active TSS	Brain Anterior Caudate	brain
44	chr1:150736200-150738600	Active TSS	Colonic Mucosa	Colon
45	chr1:150736400-150736800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:150736400-150736800	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr1:150736400-150736800	Enhancers	Stomach Mucosa	stomach
48	chr1:150736400-150737200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:150736400-150737400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:150736400-150737400	Flanking Active TSS	Primary B cells from cord blood	blood

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