Variant report

Variant	rs10030846
Chromosome Location	chr4:122077844-122077845
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17051303	1.00[EUR][1000 genomes]
rs17051304	1.00[EUR][1000 genomes]
rs17051306	1.00[EUR][1000 genomes]
rs17051309	1.00[EUR][1000 genomes]
rs17051311	1.00[EUR][1000 genomes]
rs17051312	1.00[EUR][1000 genomes]
rs17051313	1.00[EUR][1000 genomes]
rs17051314	1.00[EUR][1000 genomes]
rs17051315	1.00[EUR][1000 genomes]
rs17051316	1.00[EUR][1000 genomes]
rs28380115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28465139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28562240	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6837539	0.84[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72668912	1.00[EUR][1000 genomes]
rs73847413	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3386870	chr4:121867625-122208448	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv879860	chr4:122030864-122126808	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122075400-122078000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr4:122075600-122078000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
3	chr4:122075800-122078000	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr4:122076000-122078000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:122076000-122078000	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr4:122076000-122078000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:122077000-122078000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:122077200-122078000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:122077200-122078000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:122077200-122078000	Enhancers	Fetal Thymus	thymus
11	chr4:122077200-122078000	Enhancers	HMEC	breast
12	chr4:122077200-122078400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:122077200-122078400	Active TSS	Fetal Kidney	kidney
14	chr4:122077200-122078400	Flanking Active TSS	NH-A	brain
15	chr4:122077200-122078600	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr4:122077200-122078600	Flanking Active TSS	HUVEC	blood vessel
17	chr4:122077200-122078800	Active TSS	Right Atrium	heart
18	chr4:122077200-122079000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr4:122077400-122078000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:122077400-122078000	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr4:122077400-122078000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr4:122077400-122078000	Weak transcription	Small Intestine	intestine
23	chr4:122077400-122078000	Enhancers	HSMM	muscle
24	chr4:122077400-122078200	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr4:122077400-122078200	Active TSS	Fetal Stomach	stomach
26	chr4:122077400-122078600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr4:122077400-122078600	Active TSS	NHLF	lung
28	chr4:122077400-122078800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:122077400-122078800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:122077400-122078800	Active TSS	Right Ventricle	heart
31	chr4:122077600-122078000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:122077600-122078200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:122077600-122078400	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr4:122077600-122078400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:122077600-122078600	Active TSS	Fetal Intestine Large	intestine
36	chr4:122077600-122078800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr4:122077600-122078800	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr4:122077800-122078000	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr4:122077800-122078000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr4:122077800-122078000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:122077800-122078000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:122077800-122078000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr4:122077800-122078000	Active TSS	Brain Angular Gyrus	brain
44	chr4:122077800-122078000	Active TSS	Stomach Smooth Muscle	stomach
45	chr4:122077800-122078000	Active TSS	NHEK	skin
46	chr4:122077800-122078000	Active TSS	Osteobl	bone
47	chr4:122077800-122078200	Active TSS	H1 Cell Line	embryonic stem cell
48	chr4:122077800-122078200	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr4:122077800-122078200	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr4:122077800-122078200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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