Variant report

Variant	rs530461620
Chromosome Location	chr1:197500466-197500467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197497659..197501669-chr1:197502330..197509273,8	K562	blood:
2	chr1:197497659..197500919-chr1:197504865..197507867,5	K562	blood:
3	chr1:197498873..197501706-chr1:197501990..197505731,4	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521647	chr1:197464448-197529218	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv4010	chr1:197471463-197511397	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3529852	chr1:197499296-197504342	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv992847	chr1:197499789-197504257	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv2558030	chr1:197499844-197504117	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3321037	chr1:197500109-197503594	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3529851	chr1:197500215-197503740	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv7266	chr1:197500264-197503521	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv2053199	chr1:197500329-197503458	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3337855	chr1:197500404-197503341	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv511726	chr1:197500406-197503625	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3529855	chr1:197500413-197503378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3529849	chr1:197500422-197503356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3529856	chr1:197500434-197503303	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3321039	chr1:197500441-197503338	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3321036	chr1:197500454-197503294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv3529858	chr1:197500457-197503329	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv3529857	chr1:197500466-197503317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197478000-197541200	Weak transcription	Aorta	Aorta
2	chr1:197480000-197535800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:197480200-197541200	Weak transcription	Esophagus	oesophagus
4	chr1:197480200-197541200	Weak transcription	Fetal Thymus	thymus
5	chr1:197480400-197541200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:197481000-197507000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:197481200-197503400	Weak transcription	Primary T cells from cord blood	blood
8	chr1:197481200-197504200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:197481200-197507200	Weak transcription	Dnd41	blood
10	chr1:197481200-197508000	Weak transcription	Left Ventricle	heart
11	chr1:197481200-197513400	Weak transcription	Adipose Nuclei	Adipose
12	chr1:197481400-197503600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:197481400-197529600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:197482000-197508000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:197482000-197508000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:197482200-197507600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:197482200-197507800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr1:197487800-197536000	Weak transcription	Fetal Lung	lung
19	chr1:197491600-197520800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:197494600-197510200	Weak transcription	Thymus	Thymus
21	chr1:197495200-197510800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:197496200-197532400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:197500400-197500600	Enhancers	Primary hematopoietic stem cells	blood

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