Variant report

Variant	rs9957195
Chromosome Location	chr18:43659062-43659063
allele	A/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	POLR2A	chr18:43658671-43660969	HepG2	liver:	n/a	n/a
2	POLR2A	chr18:43656715-43660910	K562	blood:	n/a	n/a
3	POLR2A	chr18:43658776-43660962	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43653881..43655599-chr18:43657132..43659332,2	K562	blood:

Variant related genes	Relation type
ENSG00000252034	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs28514313	1.00[AMR][1000 genomes]
rs9951540	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43652200-43659600	Weak transcription	Small Intestine	intestine
2	chr18:43652600-43660000	Weak transcription	Brain Angular Gyrus	brain
3	chr18:43652600-43662200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:43652600-43662600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr18:43652600-43663000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:43652600-43663200	Weak transcription	Esophagus	oesophagus
7	chr18:43652600-43665000	Weak transcription	Aorta	Aorta
8	chr18:43652800-43659400	Weak transcription	Hela-S3	cervix
9	chr18:43652800-43662600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr18:43652800-43664000	Weak transcription	K562	blood
11	chr18:43653000-43662600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr18:43653000-43663000	Weak transcription	Fetal Brain Male	brain
13	chr18:43653200-43659200	Weak transcription	NHDF-Ad	bronchial
14	chr18:43653200-43663200	Weak transcription	Psoas Muscle	Psoas
15	chr18:43653400-43663800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr18:43653600-43659200	Weak transcription	Fetal Kidney	kidney
17	chr18:43653600-43659600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr18:43653600-43660400	Weak transcription	Lung	lung
19	chr18:43653600-43660400	Weak transcription	HepG2	liver
20	chr18:43653600-43661000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr18:43653600-43661200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr18:43653600-43662400	Weak transcription	Colonic Mucosa	Colon
23	chr18:43653600-43662600	Weak transcription	Ovary	ovary
24	chr18:43653600-43662600	Weak transcription	Right Ventricle	heart
25	chr18:43653600-43662800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr18:43653600-43662800	Weak transcription	Pancreas	Pancrea
27	chr18:43653600-43662800	Weak transcription	Spleen	Spleen
28	chr18:43653600-43663200	Weak transcription	Gastric	stomach
29	chr18:43653600-43665400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr18:43653600-43666200	Weak transcription	Stomach Mucosa	stomach
31	chr18:43653600-43669600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr18:43653800-43659200	Weak transcription	Adipose Nuclei	Adipose
33	chr18:43653800-43659400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr18:43653800-43659600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr18:43653800-43659800	Weak transcription	Primary T cells from cord blood	blood
36	chr18:43653800-43659800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr18:43653800-43660000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr18:43653800-43660200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr18:43653800-43661400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr18:43653800-43662800	Weak transcription	Fetal Lung	lung
41	chr18:43653800-43663200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr18:43653800-43663400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr18:43654200-43659200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr18:43654200-43659800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr18:43654200-43659800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr18:43654200-43659800	Weak transcription	NHLF	lung
47	chr18:43654200-43660200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr18:43654200-43661200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr18:43654200-43665800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr18:43654400-43659200	Weak transcription	H1 Cell Line	embryonic stem cell

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