Variant report

Variant	rs530023630
Chromosome Location	chr18:12271865-12271866
allele	A/C
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	chr18:12271533..12274633-chr18:12277025..12281374,4	K562	blood:
2	chr18:12271551..12272301-chr18:12308095..12308990,3	MCF-7	breast:
3	chr17:7387282..7388176-chr18:12271509..12272128,2	Hela-S3	cervix:
4	chr18:12271750..12274682-chr18:12275072..12276921,2	K562	blood:
5	chr18:12271756..12273282-chr18:13725344..13726895,2	K562	blood:
6	chr18:12271566..12272281-chr18:12659989..12660492,2	K562	blood:
7	chr18:12265032..12267863-chr18:12270238..12271917,4	K562	blood:
8	chr18:12271574..12273371-chr18:12275461..12278516,4	MCF-7	breast:
9	chr18:12270328..12273534-chr18:12306877..12309950,3	K562	blood:
10	chr18:12270534..12272784-chr18:12301768..12304074,2	K562	blood:
11	chr18:12270340..12273321-chr18:12306765..12308912,3	MCF-7	breast:
12	chr18:12271753..12272332-chr20:52195070..52195888,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000181222	Chromatin interaction
ENSG00000177150	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000101654	Chromatin interaction
ENSG00000176014	Chromatin interaction

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	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv909401	chr18:12211483-12312075	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv909402	chr18:12211483-12325222	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv909403	chr18:12231060-12325222	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1061545	chr18:12235999-12328405	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv870342	chr18:12270808-12295798	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12271200-12272200	Active TSS	Hela-S3	cervix
2	chr18:12271400-12272000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:12271400-12272000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:12271400-12272200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr18:12271400-12272200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr18:12271400-12272200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr18:12271400-12272200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr18:12271400-12272200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr18:12271400-12272200	Active TSS	Brain Anterior Caudate	brain
10	chr18:12271400-12272200	Active TSS	Colon Smooth Muscle	Colon
11	chr18:12271400-12272200	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr18:12271400-12272400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:12271600-12272000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr18:12271600-12272000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr18:12271600-12272000	Active TSS	Aorta	Aorta
16	chr18:12271600-12272000	Active TSS	Liver	Liver
17	chr18:12271600-12272000	Active TSS	Brain Angular Gyrus	brain
18	chr18:12271600-12272000	Active TSS	Brain Cingulate Gyrus	brain
19	chr18:12271600-12272000	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr18:12271600-12272000	Active TSS	Brain Substantia Nigra	brain
21	chr18:12271600-12272000	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr18:12271600-12272000	Active TSS	Esophagus	oesophagus
23	chr18:12271600-12272000	Enhancers	Lung	lung
24	chr18:12271600-12272000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr18:12271600-12272000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr18:12271600-12272000	Flanking Active TSS	Dnd41	blood
27	chr18:12271600-12272000	Flanking Active TSS	HMEC	breast
28	chr18:12271600-12272000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
29	chr18:12271600-12272200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:12271600-12272200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr18:12271600-12272200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr18:12271600-12272200	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr18:12271600-12272200	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr18:12271600-12272200	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr18:12271600-12272200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr18:12271600-12272200	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr18:12271600-12272200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr18:12271600-12272200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr18:12271600-12272200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr18:12271600-12272200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr18:12271600-12272200	Active TSS	Brain Hippocampus Middle	brain
42	chr18:12271600-12272200	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr18:12271600-12272200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr18:12271600-12272200	Active TSS	Duodenum Mucosa	Duodenum
45	chr18:12271600-12272200	Active TSS	Fetal Brain Female	brain
46	chr18:12271600-12272200	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr18:12271600-12272200	Active TSS	Left Ventricle	heart
48	chr18:12271600-12272200	Active TSS	Rectal Smooth Muscle	rectum
49	chr18:12271600-12272200	Active TSS	Right Ventricle	heart
50	chr18:12271600-12272200	Active TSS	Stomach Smooth Muscle	stomach

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