Variant report

Variant	rs7231964
Chromosome Location	chr18:8395737-8395738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr18:8395428-8395979	HEK293-T-REx	kidney:	n/a	chr18:8395740-8395749

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8383086..8385135-chr18:8394319..8396529,2	K562	blood:

Variant related genes	Relation type
PTPRM	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16953398	1.00[EUR][1000 genomes]
rs16953436	1.00[EUR][1000 genomes]
rs2155754	1.00[EUR][1000 genomes]
rs56833614	1.00[EUR][1000 genomes]
rs59280133	1.00[EUR][1000 genomes]
rs641358	1.00[EUR][1000 genomes]
rs6506581	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7232155	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73384215	1.00[EUR][1000 genomes]
rs73384258	1.00[EUR][1000 genomes]
rs73384260	1.00[EUR][1000 genomes]
rs73384266	1.00[EUR][1000 genomes]
rs73384296	1.00[EUR][1000 genomes]
rs73939447	1.00[EUR][1000 genomes]
rs9946242	1.00[EUR][1000 genomes]
rs9948640	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv909361	chr18:8364598-8446393	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8367800-8398600	Weak transcription	NHLF	lung
2	chr18:8368000-8409000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr18:8372000-8408800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr18:8374800-8408800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr18:8375600-8408600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr18:8376000-8397000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr18:8377200-8397200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:8378600-8398600	Weak transcription	Hela-S3	cervix
9	chr18:8378800-8396600	Weak transcription	HMEC	breast
10	chr18:8378800-8397000	Weak transcription	NHEK	skin
11	chr18:8379000-8411000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr18:8379200-8396000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr18:8379200-8396800	Weak transcription	Primary T cells from cord blood	blood
14	chr18:8379600-8407000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr18:8379800-8410800	Weak transcription	Psoas Muscle	Psoas
16	chr18:8381000-8405400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr18:8382400-8409400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr18:8382600-8406400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr18:8382600-8407200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr18:8383000-8397600	Weak transcription	HSMMtube	muscle
21	chr18:8385200-8396800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr18:8387200-8399200	Weak transcription	HepG2	liver
23	chr18:8387200-8409200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr18:8388000-8406200	Weak transcription	Fetal Brain Male	brain
25	chr18:8388000-8408000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr18:8388200-8400200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr18:8388200-8400200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr18:8388200-8403800	Weak transcription	Brain Hippocampus Middle	brain
29	chr18:8388200-8405800	Weak transcription	Fetal Brain Female	brain
30	chr18:8388200-8408200	Weak transcription	Brain Angular Gyrus	brain
31	chr18:8388400-8396200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr18:8388400-8409200	Weak transcription	Fetal Heart	heart
33	chr18:8388400-8410800	Weak transcription	Brain Anterior Caudate	brain
34	chr18:8388600-8397400	Weak transcription	Fetal Intestine Small	intestine
35	chr18:8388600-8400000	Weak transcription	Spleen	Spleen
36	chr18:8388600-8406200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr18:8388600-8407000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr18:8388600-8410600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr18:8390200-8396600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr18:8390200-8398800	Weak transcription	Right Atrium	heart
41	chr18:8391200-8396200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr18:8391800-8396200	Weak transcription	NH-A	brain
43	chr18:8391800-8410600	Weak transcription	A549	lung
44	chr18:8392200-8409600	Weak transcription	Osteobl	bone
45	chr18:8392800-8400400	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr18:8392800-8402200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr18:8393000-8396800	Strong transcription	Fetal Muscle Leg	muscle
48	chr18:8393000-8402400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr18:8393200-8396200	Strong transcription	Pancreas	Pancrea
50	chr18:8393200-8398600	Strong transcription	Skeletal Muscle Male	skeletal muscle

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