Variant report

Variant	rs11943527
Chromosome Location	chr4:128843775-128843776
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11931833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11932251	1.00[AMR][1000 genomes]
rs11933103	1.00[AMR][1000 genomes]
rs11934357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11935267	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11938181	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11941287	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11941857	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11942042	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11943141	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11947194	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012665	0.88[AFR][1000 genomes]
rs17012675	0.88[AFR][1000 genomes]
rs17012679	0.82[AFR][1000 genomes]
rs17012845	1.00[AMR][1000 genomes]
rs6534652	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv879922	chr4:128554404-128901402	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv879923	chr4:128554404-129068179	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1801492	chr4:128566686-128934513	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
8	esv1793579	chr4:128577439-128871309	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv3431515	chr4:128657260-128932577	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv532740	chr4:128710011-129035335	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv1033701	chr4:128803159-129095018	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	nsv1019193	chr4:128810527-128949320	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	esv1841203	chr4:128817558-129043809	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv1029890	chr4:128828468-129041302	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128817400-128849400	Weak transcription	Osteobl	bone
2	chr4:128818800-128863000	Weak transcription	A549	lung
3	chr4:128831200-128884600	Weak transcription	Spleen	Spleen
4	chr4:128832600-128885200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:128833400-128858000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:128833600-128867600	Weak transcription	NHLF	lung
7	chr4:128833800-128843800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:128835000-128885200	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:128836000-128864000	Weak transcription	Small Intestine	intestine
10	chr4:128836200-128847000	Weak transcription	Lung	lung
11	chr4:128836200-128847200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:128836400-128843800	Weak transcription	Stomach Mucosa	stomach
13	chr4:128836400-128850600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:128836400-128863000	Weak transcription	Fetal Kidney	kidney
15	chr4:128836800-128845000	Weak transcription	HUVEC	blood vessel
16	chr4:128836800-128884600	Weak transcription	Esophagus	oesophagus
17	chr4:128836800-128885200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:128837000-128868600	Weak transcription	Pancreas	Pancrea
19	chr4:128837000-128885800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr4:128837400-128885800	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:128837600-128861800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:128837800-128844000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:128837800-128844200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:128837800-128844200	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:128837800-128844400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr4:128837800-128885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:128838000-128843800	Strong transcription	Fetal Intestine Large	intestine
28	chr4:128838000-128843800	Strong transcription	Fetal Muscle Leg	muscle
29	chr4:128838000-128844000	Strong transcription	Adipose Nuclei	Adipose
30	chr4:128838000-128865400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr4:128838000-128866000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:128838200-128844200	Strong transcription	Placenta	Placenta
33	chr4:128838200-128844400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr4:128838200-128847200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:128838200-128847200	Weak transcription	Fetal Stomach	stomach
36	chr4:128838400-128844400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:128838400-128885200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr4:128838400-128885800	Weak transcription	Brain Angular Gyrus	brain
39	chr4:128838800-128862600	Weak transcription	HSMMtube	muscle
40	chr4:128838800-128885200	Weak transcription	Right Ventricle	heart
41	chr4:128839000-128844000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr4:128839000-128854800	Weak transcription	Fetal Heart	heart
43	chr4:128839200-128844200	Strong transcription	Fetal Thymus	thymus
44	chr4:128839800-128861800	Weak transcription	HMEC	breast
45	chr4:128840000-128885800	Weak transcription	Aorta	Aorta
46	chr4:128840400-128847800	Weak transcription	Ovary	ovary
47	chr4:128840600-128885200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr4:128840800-128885200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr4:128841200-128843800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:128841400-128843800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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