Variant report

Variant	rs7230131
Chromosome Location	chr18:44660923-44660924
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	POLR2A	chr18:44660497-44661608	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44660900..44663835-chr18:44675479..44677959,3	MCF-7	breast:
2	chr18:44660861..44662516-chr18:44674947..44676839,2	K562	blood:

Variant related genes	Relation type
ENSG00000267800	TF binding region
ENSG00000167220	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16940131	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs16949731	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952905	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised 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 lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv909612	chr18:44560875-44681485	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv576819	chr18:44602249-44677627	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv909613	chr18:44644530-44690107	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44620800-44675400	Weak transcription	A549	lung
2	chr18:44621600-44674400	Weak transcription	Small Intestine	intestine
3	chr18:44626600-44664800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:44629200-44675800	Weak transcription	HUVEC	blood vessel
5	chr18:44632400-44675800	Weak transcription	Stomach Mucosa	stomach
6	chr18:44636200-44670600	Weak transcription	Pancreas	Pancrea
7	chr18:44636600-44661000	Weak transcription	Psoas Muscle	Psoas
8	chr18:44639200-44662400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr18:44639600-44665000	Weak transcription	Colonic Mucosa	Colon
10	chr18:44639600-44666400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:44640400-44662000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr18:44640600-44675600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr18:44640800-44662000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr18:44641600-44670400	Weak transcription	HepG2	liver
15	chr18:44641600-44674000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr18:44641600-44675800	Weak transcription	Lung	lung
17	chr18:44641800-44661400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr18:44641800-44662000	Weak transcription	K562	blood
19	chr18:44641800-44662600	Weak transcription	Brain Angular Gyrus	brain
20	chr18:44641800-44663200	Weak transcription	Esophagus	oesophagus
21	chr18:44641800-44664400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr18:44641800-44665600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr18:44641800-44674400	Weak transcription	Aorta	Aorta
24	chr18:44641800-44675200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr18:44641800-44675400	Weak transcription	Fetal Intestine Small	intestine
26	chr18:44641800-44675800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:44641800-44675800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr18:44642000-44664600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr18:44642000-44675200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr18:44642200-44674600	Weak transcription	NHEK	skin
31	chr18:44645600-44665200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr18:44645600-44667600	Weak transcription	HSMMtube	muscle
33	chr18:44646400-44662000	Weak transcription	NHDF-Ad	bronchial
34	chr18:44647400-44663200	Weak transcription	Gastric	stomach
35	chr18:44647800-44675800	Weak transcription	Ovary	ovary
36	chr18:44649000-44661200	Weak transcription	GM12878-XiMat	blood
37	chr18:44649400-44664000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr18:44650400-44670800	Weak transcription	Right Ventricle	heart
39	chr18:44653400-44668600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:44654200-44663400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr18:44655200-44661000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr18:44655200-44663600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr18:44655400-44661800	Weak transcription	Hela-S3	cervix
44	chr18:44655400-44662200	Weak transcription	Fetal Lung	lung
45	chr18:44655800-44670000	Weak transcription	Fetal Heart	heart
46	chr18:44656400-44675200	Weak transcription	Thymus	Thymus
47	chr18:44656600-44662200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr18:44656600-44662200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr18:44656800-44661000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr18:44656800-44662200	Weak transcription	Primary B cells from peripheral blood	blood

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