Variant report

Variant	rs148926885
Chromosome Location	chr18:12651992-12651993
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12648702..12654959-chr18:12655130..12658770,8	K562	blood:
2	chr18:12649857..12654959-chr18:12655130..12658770,11	K562	blood:
3	chr18:12651259..12653780-chr18:12656567..12658681,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134278	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000215527	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv1820040	chr18:12635601-12725236	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv1817845	chr18:12635601-12733705	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv1821625	chr18:12635601-12733705	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	esv1791969	chr18:12643193-12697711	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3397790	chr18:12649001-12673755	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv576497	chr18:12650900-12658293	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv576498	chr18:12650900-12658436	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12633600-12655800	Weak transcription	Fetal Stomach	stomach
2	chr18:12637800-12652000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:12640400-12652000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr18:12643800-12653000	Weak transcription	A549	lung
5	chr18:12646000-12652200	Weak transcription	NH-A	brain
6	chr18:12646000-12653000	Weak transcription	Thymus	Thymus
7	chr18:12646000-12654000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr18:12646200-12652600	Weak transcription	HMEC	breast
9	chr18:12646200-12652800	Weak transcription	Brain Anterior Caudate	brain
10	chr18:12646200-12652800	Weak transcription	K562	blood
11	chr18:12646200-12653000	Weak transcription	Right Atrium	heart
12	chr18:12646200-12653000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr18:12646200-12653000	Weak transcription	NHLF	lung
14	chr18:12646200-12657000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr18:12646200-12657000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr18:12646400-12652000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:12646400-12652000	Weak transcription	Fetal Intestine Small	intestine
18	chr18:12646400-12652200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr18:12646400-12652400	Weak transcription	Brain Angular Gyrus	brain
20	chr18:12646400-12652800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr18:12646400-12652800	Weak transcription	Ovary	ovary
22	chr18:12646400-12653000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr18:12646400-12653000	Weak transcription	Fetal Thymus	thymus
24	chr18:12646400-12653000	Weak transcription	Psoas Muscle	Psoas
25	chr18:12646400-12656600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr18:12646400-12656600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr18:12646400-12657000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr18:12646600-12652200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr18:12646600-12653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr18:12646800-12652200	Weak transcription	Fetal Brain Male	brain
31	chr18:12647000-12653000	Weak transcription	Lung	lung
32	chr18:12648000-12656800	Weak transcription	Left Ventricle	heart
33	chr18:12648400-12652600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr18:12648400-12656600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr18:12648600-12652000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr18:12648600-12652000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr18:12648600-12652400	Weak transcription	HUVEC	blood vessel
38	chr18:12648600-12652600	Weak transcription	Hela-S3	cervix
39	chr18:12648600-12652600	Weak transcription	Osteobl	bone
40	chr18:12648600-12652800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr18:12648600-12653000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr18:12648600-12655800	Weak transcription	Fetal Muscle Leg	muscle
43	chr18:12648600-12656800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr18:12648800-12652200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr18:12650000-12654400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr18:12650400-12652600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr18:12650800-12653000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr18:12651000-12653400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr18:12651000-12653600	Enhancers	Brain Substantia Nigra	brain
50	chr18:12651000-12654000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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