Variant report

Variant	rs11943159
Chromosome Location	chr4:104227812-104227813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6857904	0.92[AMR][1000 genomes]
rs73835312	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73835314	1.00[AMR][1000 genomes]
rs73835327	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015023	chr4:104039145-104565217	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv830022	chr4:104087199-104257784	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv821637	chr4:104134839-104246167	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3431044	chr4:104179397-104249650	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2757947	chr4:104179925-104342395	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2759271	chr4:104179925-104342395	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv10543	chr4:104191189-104249208	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv461599	chr4:104194329-104242990	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv461600	chr4:104194329-104242990	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv594979	chr4:104194329-104242990	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv2760915	chr4:104195451-104249405	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1000799	chr4:104198767-104247922	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv10488	chr4:104200223-104248841	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv461601	chr4:104200229-104242990	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv461602	chr4:104200229-104242990	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv594980	chr4:104200229-104242990	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv3692831	chr4:104200229-104245131	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv594981	chr4:104200229-104245131	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv526027	chr4:104200229-104250324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv437408	chr4:104200229-104254009	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv3493971	chr4:104200903-104232801	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv3493972	chr4:104200903-104232801	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv1008688	chr4:104201007-104244736	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv999818	chr4:104201007-104247922	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv1012795	chr4:104201007-104249393	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv3405866	chr4:104201353-104249951	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv3467290	chr4:104201599-104248991	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv3467291	chr4:104201599-104248991	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv594982	chr4:104202589-104245131	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv2421357	chr4:104202589-104247934	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv879685	chr4:104204409-104258396	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv1012273	chr4:104206802-104234402	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv1006874	chr4:104206802-104236171	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv1010869	chr4:104206802-104241267	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv1011575	chr4:104206802-104242364	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
36	nsv1000341	chr4:104206802-104242849	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
37	nsv997992	chr4:104206802-104244736	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
38	nsv1009005	chr4:104206802-104247922	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
39	nsv1003375	chr4:104206802-104249393	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
40	nsv1007941	chr4:104206802-104249985	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
41	esv2763794	chr4:104206814-104247934	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
42	nsv442914	chr4:104206814-104247934	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
43	nsv1008227	chr4:104209158-104244736	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
44	nsv997570	chr4:104209158-104247922	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
45	nsv516818	chr4:104209286-104235380	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
46	nsv818258	chr4:104209286-104235380	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
47	nsv461603	chr4:104209286-104250324	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
48	nsv461604	chr4:104209286-104250324	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
49	nsv461606	chr4:104209286-104250324	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
50	nsv594983	chr4:104209286-104250324	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104209400-104229400	Weak transcription	Right Atrium	heart
2	chr4:104224800-104228000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:104225000-104232800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:104225800-104228800	Enhancers	Placenta	Placenta
5	chr4:104226400-104228600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:104226600-104229000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:104226600-104229000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:104226600-104229800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:104226800-104229000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:104226800-104229400	Enhancers	Fetal Muscle Leg	muscle
11	chr4:104226800-104229600	Enhancers	Fetal Muscle Trunk	muscle
12	chr4:104227000-104228000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:104227000-104228000	Enhancers	Brain Cingulate Gyrus	brain
14	chr4:104227000-104228400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:104227200-104228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:104227400-104228600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr4:104227400-104228800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr4:104227400-104228800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr4:104227400-104229000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:104227400-104229000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:104227400-104229600	Enhancers	Fetal Lung	lung
22	chr4:104227600-104228000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:104227600-104228000	Enhancers	Brain Germinal Matrix	brain
24	chr4:104227600-104228000	Flanking Active TSS	HepG2	liver
25	chr4:104227600-104228200	Active TSS	Brain Hippocampus Middle	brain
26	chr4:104227600-104228400	Active TSS	Brain Anterior Caudate	brain
27	chr4:104227600-104228600	Flanking Active TSS	Brain Substantia Nigra	brain
28	chr4:104227600-104228600	Enhancers	Fetal Heart	heart
29	chr4:104227600-104228600	Enhancers	Pancreas	Pancrea
30	chr4:104227600-104228600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr4:104227600-104228600	Enhancers	K562	blood
32	chr4:104227600-104228800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:104227600-104228800	Enhancers	Stomach Mucosa	stomach
34	chr4:104227600-104229000	Enhancers	Gastric	stomach
35	chr4:104227600-104229200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:104227600-104229200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr4:104227600-104229600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr4:104227600-104229800	Enhancers	Fetal Stomach	stomach
39	chr4:104227800-104228000	Enhancers	Adipose Nuclei	Adipose
40	chr4:104227800-104228000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr4:104227800-104228400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:104227800-104228400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr4:104227800-104228400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:104227800-104228400	Enhancers	Stomach Smooth Muscle	stomach
45	chr4:104227800-104228600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:104227800-104228600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr4:104227800-104228600	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr4:104227800-104228600	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr4:104227800-104228800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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