Variant report

Variant	rs397751886
Chromosome Location	chr1:84623768-84623769
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84619466..84621949-chr1:84622598..84626604,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv871731	chr1:84597396-84658591	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv871656	chr1:84601048-84693671	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv997601	chr1:84609346-84672859	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1005225	chr1:84609871-84667950	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1002537	chr1:84611207-84658450	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv999772	chr1:84611207-84667218	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1013911	chr1:84619164-84667950	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv871375	chr1:84622793-84678418	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv1122685	chr1:84623767-84623768	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84610400-84633400	Weak transcription	Fetal Kidney	kidney
2	chr1:84611600-84629800	Weak transcription	Fetal Stomach	stomach
3	chr1:84612800-84628800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:84614000-84633800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:84614600-84625600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:84614800-84629000	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:84615800-84623800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr1:84615800-84634800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:84616200-84635200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:84618200-84623800	Weak transcription	Thymus	Thymus
11	chr1:84618800-84630400	Weak transcription	Primary B cells from cord blood	blood
12	chr1:84619000-84628800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:84619000-84628800	Weak transcription	Gastric	stomach
14	chr1:84619200-84630200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:84621400-84624400	Weak transcription	Dnd41	blood
16	chr1:84621800-84625400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:84622000-84628800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:84622200-84626000	Strong transcription	Primary hematopoietic stem cells	blood
19	chr1:84622200-84630000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:84622400-84625400	Weak transcription	Aorta	Aorta
21	chr1:84622400-84635800	Weak transcription	Small Intestine	intestine
22	chr1:84622600-84628800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:84622800-84625600	Weak transcription	Stomach Mucosa	stomach
24	chr1:84622800-84628000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:84623000-84623800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:84623000-84624800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:84623000-84625600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:84623000-84625600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr1:84623000-84626800	Weak transcription	HUVEC	blood vessel
30	chr1:84623000-84627600	Weak transcription	NHEK	skin
31	chr1:84623000-84629800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr1:84623000-84639200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:84623200-84624200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:84623200-84625200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:84623400-84626000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:84623600-84624000	Genic enhancers	Primary T cells fromperipheralblood	blood
37	chr1:84623600-84624000	ZNF genes & repeats	Fetal Thymus	thymus
38	chr1:84623600-84624200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr1:84623600-84624200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:84623600-84624200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:84623600-84624400	Weak transcription	Primary T cells from cord blood	blood
42	chr1:84623600-84625200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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