Variant report

Variant	rs535347506
Chromosome Location	chr18:9583446-9583447
allele	-/CTCCACCTC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9577278..9579746-chr18:9582108..9585693,4	K562	blood:
2	chr18:9582156..9584516-chr18:9588377..9590362,3	K562	blood:
3	chr18:9582357..9586836-chr18:9613591..9615895,4	K562	blood:
4	chr18:9582694..9585330-chr18:9707569..9709416,2	K562	blood:
5	chr18:9570616..9572837-chr18:9581502..9583997,2	K562	blood:
6	chr18:9581775..9584005-chr18:9596096..9598190,2	K562	blood:

Variant related genes	Relation type
ENSG00000154845	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000263627	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking 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	28 gene(s)	inside rSNPs	diseases
3	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv543644	chr18:9576145-9612516	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv3317726	chr18:9582984-9584072	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3317727	chr18:9583179-9583985	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9545800-9583600	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr18:9545800-9595200	Strong transcription	Dnd41	blood
3	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:9559000-9586800	Weak transcription	Small Intestine	intestine
6	chr18:9559600-9587000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr18:9563600-9591600	Weak transcription	Colonic Mucosa	Colon
8	chr18:9563600-9594800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr18:9565200-9594200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:9566800-9592600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr18:9566800-9594600	Strong transcription	HSMM	muscle
12	chr18:9568600-9587600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr18:9570400-9594400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr18:9572200-9587400	Weak transcription	Ovary	ovary
15	chr18:9575800-9592800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:9576000-9594400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr18:9576200-9584800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:9576200-9586800	Weak transcription	Brain Hippocampus Middle	brain
19	chr18:9576200-9587600	Weak transcription	Brain Substantia Nigra	brain
20	chr18:9576200-9589000	Strong transcription	NHDF-Ad	bronchial
21	chr18:9576200-9594000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr18:9576200-9597800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr18:9576600-9584600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr18:9576800-9584400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:9577200-9583600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr18:9577200-9585400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr18:9577600-9594400	Weak transcription	Stomach Mucosa	stomach
28	chr18:9577800-9584800	Strong transcription	K562	blood
29	chr18:9578200-9589200	Strong transcription	Primary B cells from cord blood	blood
30	chr18:9578400-9587800	Weak transcription	Gastric	stomach
31	chr18:9578400-9595200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr18:9578600-9590800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr18:9578800-9585000	Strong transcription	Placenta	Placenta
34	chr18:9578800-9594800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr18:9579000-9584400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr18:9579000-9585800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr18:9579000-9592600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr18:9579000-9593800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr18:9579400-9583600	Strong transcription	Brain Cingulate Gyrus	brain
40	chr18:9579400-9583600	Strong transcription	Fetal Intestine Large	intestine
41	chr18:9579400-9584800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr18:9579400-9584800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr18:9579600-9583800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr18:9579600-9583800	Strong transcription	Fetal Muscle Leg	muscle
45	chr18:9579600-9584800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr18:9579600-9584800	Strong transcription	NH-A	brain
47	chr18:9579600-9585600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr18:9579600-9591400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr18:9579600-9594000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr18:9579800-9584400	Strong transcription	Brain Germinal Matrix	brain

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