Variant report

Variant	rs12964542
Chromosome Location	chr18:9815492-9815493
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9814113..9818318-chr18:9827518..9830876,4	K562	blood:

Variant related genes	Relation type
ENSG00000242651	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv909366	chr18:9760942-9827368	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3372565	chr18:9813252-9818150	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3490316	chr18:9814052-9817250	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3377423	chr18:9814502-9817300	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3490312	chr18:9814602-9817100	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv9607	chr18:9814637-9816374	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3317562	chr18:9814786-9816389	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1830643	chr18:9814788-9816098	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1846479	chr18:9814788-9816098	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3490321	chr18:9814928-9816733	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv820745	chr18:9814979-9816456	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv12113	chr18:9815046-9816215	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv1802057	chr18:9815135-9816546	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv1808423	chr18:9815135-9816546	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv1822048	chr18:9815135-9816546	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv3317566	chr18:9815139-9816220	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv3490320	chr18:9815159-9816278	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv3490314	chr18:9815177-9816242	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv3317565	chr18:9815179-9816217	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv3490318	chr18:9815184-9816185	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv3490313	chr18:9815207-9816203	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	esv5001	chr18:9815230-9816309	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv576450	chr18:9815234-9815886	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	esv3490315	chr18:9815235-9816194	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	esv3317564	chr18:9815247-9816153	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	esv3490317	chr18:9815257-9816164	Strong transcription Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	esv3317567	chr18:9815261-9816149	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	nsv576451	chr18:9815285-9816111	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	nsv576452	chr18:9815285-9816173	Strong transcription Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	esv3490322	chr18:9815309-9816162	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9804200-9816800	Weak transcription	Primary B cells from cord blood	blood
2	chr18:9806800-9816400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr18:9807600-9824400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr18:9807800-9832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr18:9809000-9825000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:9809200-9817200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr18:9809200-9820800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr18:9809200-9824400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr18:9809200-9824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:9809200-9824800	Weak transcription	Lung	lung
11	chr18:9809200-9825000	Weak transcription	Stomach Mucosa	stomach
12	chr18:9809400-9816000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:9809400-9816000	Weak transcription	Placenta	Placenta
14	chr18:9809400-9816000	Weak transcription	NHEK	skin
15	chr18:9809400-9816600	Weak transcription	Fetal Lung	lung
16	chr18:9809400-9824400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr18:9809600-9824400	Weak transcription	HMEC	breast
18	chr18:9810000-9817600	Weak transcription	Right Ventricle	heart
19	chr18:9810000-9823000	Weak transcription	Aorta	Aorta
20	chr18:9810200-9818400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr18:9810200-9824000	Weak transcription	Ovary	ovary
22	chr18:9810600-9823800	Weak transcription	Fetal Stomach	stomach
23	chr18:9810800-9816000	Weak transcription	Adipose Nuclei	Adipose
24	chr18:9810800-9816000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr18:9810800-9823800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr18:9810800-9823800	Weak transcription	Brain Hippocampus Middle	brain
27	chr18:9810800-9823800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr18:9811000-9815800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:9811000-9815800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr18:9811000-9816800	Weak transcription	Brain Anterior Caudate	brain
31	chr18:9811000-9823800	Weak transcription	Colon Smooth Muscle	Colon
32	chr18:9811200-9817800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr18:9811400-9817000	Weak transcription	Left Ventricle	heart
34	chr18:9811400-9817200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr18:9811400-9823800	Weak transcription	Brain Substantia Nigra	brain
36	chr18:9811600-9816200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr18:9811800-9816000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr18:9812200-9817400	Weak transcription	Psoas Muscle	Psoas
39	chr18:9812400-9817200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr18:9812400-9817600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr18:9812400-9834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr18:9812400-9834800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr18:9813000-9817400	Weak transcription	Fetal Muscle Leg	muscle
44	chr18:9813000-9819600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr18:9813000-9819800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr18:9814000-9818000	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr18:9814200-9816000	Weak transcription	K562	blood
48	chr18:9814200-9817000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr18:9814600-9817800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr18:9814800-9816200	Weak transcription	Hela-S3	cervix

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