Variant report

Variant	rs555542734
Chromosome Location	chr18:7562241-7562242
allele	C/T
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	USF1	chr18:7561923-7562248	HepG2	liver:	n/a	chr18:7562087-7562098
2	GATA2	chr18:7561343-7562781	HUVEC	blood vessel:	n/a	chr18:7562563-7562570 chr18:7562603-7562613 chr18:7562563-7562570 chr18:7562563-7562570
3	FOXA2	chr18:7562080-7562362	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:7560178..7562976-chr18:7564673..7567118,2	MCF-7	breast:
2	chr18:7560671..7563899-chr18:7566458..7568145,4	K562	blood:
3	chr18:7561940..7563899-chr18:7566456..7568145,3	K562	blood:

Variant related genes	Relation type
PTPRM	TF binding region
ENSG00000173482	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817574	chr18:6894969-7577149	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv491761	chr18:6973010-7595578	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv909343	chr18:7076836-7578782	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv909345	chr18:7080135-7578782	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2656232	chr18:7111033-7658679	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv532282	chr18:7115075-7608218	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1064597	chr18:7169490-7762738	Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv543636	chr18:7169490-7762738	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1063350	chr18:7215275-7659999	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv909348	chr18:7279341-7578782	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	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
12	nsv909353	chr18:7479133-7578782	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv909354	chr18:7484216-7578782	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv909355	chr18:7484216-7578782	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv909356	chr18:7493288-7578782	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv909357	chr18:7524275-7578782	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
23	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
24	nsv576400	chr18:7562188-7568644	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7558200-7566000	Weak transcription	Right Atrium	heart
2	chr18:7560200-7564600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:7560200-7565200	Weak transcription	Psoas Muscle	Psoas
4	chr18:7560200-7566200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr18:7560400-7565200	Weak transcription	Left Ventricle	heart
6	chr18:7560400-7566000	Weak transcription	Lung	lung
7	chr18:7560400-7566000	Weak transcription	Pancreas	Pancrea
8	chr18:7561400-7562400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:7561600-7562600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr18:7561600-7562600	Enhancers	HepG2	liver
11	chr18:7561600-7562800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr18:7561600-7562800	Enhancers	HUVEC	blood vessel
13	chr18:7561600-7565600	Enhancers	Colon Smooth Muscle	Colon
14	chr18:7561800-7562400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr18:7561800-7562400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr18:7561800-7562400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr18:7561800-7562600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr18:7561800-7562600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr18:7561800-7562800	Enhancers	Adipose Nuclei	Adipose
20	chr18:7561800-7562800	Enhancers	Brain Anterior Caudate	brain
21	chr18:7561800-7563200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr18:7561800-7563200	Enhancers	Rectal Smooth Muscle	rectum
23	chr18:7562000-7562400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr18:7562000-7562400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:7562000-7562400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr18:7562000-7562400	Enhancers	Brain Hippocampus Middle	brain
27	chr18:7562000-7562400	Enhancers	Brain Substantia Nigra	brain
28	chr18:7562000-7562400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr18:7562000-7562600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr18:7562000-7562600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr18:7562000-7562600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr18:7562000-7562800	Enhancers	Fetal Heart	heart
33	chr18:7562000-7563200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:7562000-7564400	Weak transcription	Thymus	Thymus
35	chr18:7562200-7562600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr18:7562200-7564800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr18:7562200-7564800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr18:7562200-7564800	Weak transcription	Spleen	Spleen
39	chr18:7562200-7565000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr18:7562200-7565600	Weak transcription	Brain Angular Gyrus	brain
41	chr18:7562200-7565800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr18:7562200-7566000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links