Variant report

Variant	rs531620272
Chromosome Location	chr18:45374420-45374421
allele	-/TTTCAT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45372242..45375198-chr18:45455382..45457471,2	K562	blood:
2	chr18:45367507..45370509-chr18:45371769..45374946,4	K562	blood:
3	chr18:45368468..45370509-chr18:45372236..45375671,3	K562	blood:

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057722	chr18:45343965-45401360	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1058673	chr18:45360012-45404492	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1059186	chr18:45360012-45407405	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1062894	chr18:45368587-45387738	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1066394	chr18:45368587-45394386	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1060581	chr18:45368587-45397623	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1057525	chr18:45368587-45407405	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv1064282	chr18:45369857-45404768	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1064797	chr18:45372027-45394386	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1063859	chr18:45372027-45404492	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1062318	chr18:45374239-45394780	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1055814	chr18:45374239-45395377	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv1057298	chr18:45374239-45404428	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1062731	chr18:45374239-45404768	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45342200-45384200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:45345400-45400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr18:45347600-45381800	Weak transcription	Right Ventricle	heart
4	chr18:45351000-45374600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr18:45353000-45381200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:45354600-45381800	Weak transcription	Fetal Intestine Small	intestine
7	chr18:45355600-45375600	Strong transcription	Hela-S3	cervix
8	chr18:45355600-45375800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr18:45355600-45376200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:45356000-45378000	Weak transcription	Small Intestine	intestine
11	chr18:45356200-45377800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:45356200-45384000	Weak transcription	Spleen	Spleen
13	chr18:45356600-45376200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr18:45358600-45376400	Strong transcription	Dnd41	blood
15	chr18:45358800-45382400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr18:45359800-45375600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr18:45359800-45375600	Strong transcription	Fetal Thymus	thymus
18	chr18:45360000-45375400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr18:45360000-45375600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr18:45361400-45375600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr18:45361400-45375600	Strong transcription	A549	lung
22	chr18:45361400-45376000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr18:45362400-45375200	Strong transcription	Primary B cells from cord blood	blood
24	chr18:45362400-45375600	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr18:45362600-45375600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr18:45363000-45375800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr18:45363800-45375600	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr18:45363800-45375600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr18:45363800-45376400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr18:45364000-45375400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr18:45364400-45375600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr18:45364600-45375600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr18:45364600-45376200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr18:45365200-45375800	Strong transcription	Primary hematopoietic stem cells	blood
35	chr18:45365400-45375000	Strong transcription	GM12878-XiMat	blood
36	chr18:45365800-45381800	Weak transcription	Psoas Muscle	Psoas
37	chr18:45366000-45381800	Weak transcription	Aorta	Aorta
38	chr18:45366200-45390000	Weak transcription	Colonic Mucosa	Colon
39	chr18:45366400-45384000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr18:45366400-45384000	Weak transcription	Brain Angular Gyrus	brain
41	chr18:45366400-45384000	Weak transcription	Esophagus	oesophagus
42	chr18:45366600-45408200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr18:45367800-45375000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr18:45368000-45375400	Strong transcription	HSMM	muscle
45	chr18:45368200-45375800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr18:45368200-45384000	Weak transcription	Stomach Mucosa	stomach
47	chr18:45368400-45377200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr18:45369000-45381800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr18:45369200-45381200	Weak transcription	Brain Germinal Matrix	brain
50	chr18:45369600-45380000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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