Variant report

Variant	rs80160597
Chromosome Location	chr1:212631145-212631146
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212630558..212633496-chr1:212671302..212673120,2	K562	blood:
2	chr1:212630852..212631355-chr1:212641154..212641815,2	K562	blood:
3	chr1:212606882..212608476-chr1:212631103..212632696,2	MCF-7	breast:
4	chr1:212629922..212631691-chr1:212659895..212661692,2	K562	blood:
5	chr1:212630808..212631798-chr1:213168552..213169259,4	K562	blood:
6	chr1:212630980..212631781-chr1:212955510..212956087,2	K562	blood:
7	chr1:212589362..212592084-chr1:212630605..212632407,2	K562	blood:
8	chr1:212622646..212625445-chr1:212627199..212631249,4	K562	blood:
9	chr1:212606261..212607831-chr1:212629678..212631842,2	K562	blood:
10	chr1:212626698..212637479-chr1:212779685..212784714,19	K562	blood:
11	chr1:212628599..212634071-chr1:212780005..212784953,9	K562	blood:
12	chr1:212313138..212314989-chr1:212629911..212632338,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117691	Chromatin interaction
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
6	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
7	nsv873156	chr1:212585092-212646225	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv873157	chr1:212610755-212640982	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv873158	chr1:212610755-212646225	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv873159	chr1:212610755-212669475	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv873160	chr1:212610755-212675482	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv873161	chr1:212610755-212683565	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv527863	chr1:212617423-212700618	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv873163	chr1:212629935-212669475	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr1:212614400-212636800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:212619600-212636800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:212620200-212631400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:212627400-212631600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:212627400-212631600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:212627400-212631800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:212628400-212631800	Enhancers	Brain Hippocampus Middle	brain
8	chr1:212628800-212631200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr1:212628800-212631200	Enhancers	Brain Substantia Nigra	brain
10	chr1:212628800-212632600	Enhancers	Brain Anterior Caudate	brain
11	chr1:212629000-212631400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:212629400-212631400	Weak transcription	Dnd41	blood
13	chr1:212629400-212631800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:212629400-212631800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:212629800-212631400	Enhancers	Brain Cingulate Gyrus	brain
16	chr1:212629800-212640000	Weak transcription	Pancreas	Pancrea
17	chr1:212629800-212642600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:212629800-212643200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:212630000-212631400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:212630000-212632000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr1:212630600-212631800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:212630800-212631600	Weak transcription	Brain Angular Gyrus	brain
23	chr1:212631000-212632000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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