Variant report

Variant	rs531756312
Chromosome Location	chr1:212470453-212470454
allele	lengthTooLong
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212467247..212471909-chr1:212472711..212476183,6	K562	blood:

Variant related genes	Relation type
ENSG00000066027	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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv873155	chr1:212449195-212502157	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv1839887	chr1:212457414-212478047	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	esv1806604	chr1:212468974-212505860	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3441424	chr1:212469929-212473827	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv2464712	chr1:212470408-212473405	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212460200-212489200	Weak transcription	Spleen	Spleen
2	chr1:212461000-212476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:212462000-212471200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr1:212462200-212471000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:212462200-212471000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr1:212462600-212471000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:212463800-212471000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr1:212463800-212471000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr1:212464200-212471200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:212464200-212483000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:212464600-212473000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:212464800-212480200	Weak transcription	Lung	lung
13	chr1:212464800-212483800	Weak transcription	Pancreas	Pancrea
14	chr1:212464800-212506400	Weak transcription	Esophagus	oesophagus
15	chr1:212465000-212474800	Weak transcription	Osteobl	bone
16	chr1:212465000-212480200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:212465400-212475000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:212465400-212482800	Weak transcription	Fetal Lung	lung
19	chr1:212465800-212483200	Weak transcription	Dnd41	blood
20	chr1:212466200-212470600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:212466200-212473000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:212466200-212506400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:212466600-212479400	Weak transcription	NHEK	skin
24	chr1:212466600-212482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:212466600-212503000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:212467000-212472800	Weak transcription	Primary B cells from cord blood	blood
27	chr1:212467000-212473400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:212467000-212480800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:212467200-212470600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:212467200-212474800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:212467200-212475000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:212467200-212481800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr1:212467400-212474800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:212467400-212480200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr1:212467400-212482800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:212467400-212526000	Weak transcription	A549	lung
37	chr1:212467600-212482800	Weak transcription	HepG2	liver
38	chr1:212468200-212471200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:212468800-212474200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:212468800-212476000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:212468800-212478200	Weak transcription	Fetal Intestine Small	intestine
42	chr1:212469000-212472600	Weak transcription	Fetal Heart	heart
43	chr1:212469000-212473200	Weak transcription	Small Intestine	intestine
44	chr1:212469000-212474800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:212469000-212480200	Weak transcription	Fetal Intestine Large	intestine
46	chr1:212469000-212483200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:212469000-212483400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:212469200-212474200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:212469400-212474400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:212469600-212473000	Weak transcription	Left Ventricle	heart

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