Variant report

Variant	rs6834599
Chromosome Location	chr4:122078180-122078181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs13137539	0.84[YRI][hapmap]
rs3817171	0.86[YRI][hapmap]
rs6835790	0.86[YRI][hapmap]
rs998327	0.86[YRI][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6834599	STS	trans	lymphoblastoid	seeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122077200-122078400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:122077200-122078400	Active TSS	Fetal Kidney	kidney
3	chr4:122077200-122078400	Flanking Active TSS	NH-A	brain
4	chr4:122077200-122078600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr4:122077200-122078600	Flanking Active TSS	HUVEC	blood vessel
6	chr4:122077200-122078800	Active TSS	Right Atrium	heart
7	chr4:122077200-122079000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr4:122077400-122078200	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr4:122077400-122078200	Active TSS	Fetal Stomach	stomach
10	chr4:122077400-122078600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr4:122077400-122078600	Active TSS	NHLF	lung
12	chr4:122077400-122078800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:122077400-122078800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:122077400-122078800	Active TSS	Right Ventricle	heart
15	chr4:122077600-122078200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:122077600-122078400	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr4:122077600-122078400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:122077600-122078600	Active TSS	Fetal Intestine Large	intestine
19	chr4:122077600-122078800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr4:122077600-122078800	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr4:122077800-122078200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr4:122077800-122078200	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr4:122077800-122078200	Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr4:122077800-122078200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr4:122077800-122078200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr4:122077800-122078200	Active TSS	Fetal Muscle Trunk	muscle
27	chr4:122077800-122078200	Active TSS	Fetal Muscle Leg	muscle
28	chr4:122077800-122078200	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr4:122077800-122078400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:122077800-122078400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:122077800-122078400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:122077800-122078400	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr4:122077800-122078400	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr4:122077800-122078400	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr4:122077800-122078400	Active TSS	Muscle Satellite Cultured Cells	--
36	chr4:122077800-122078400	Active TSS	Fetal Intestine Small	intestine
37	chr4:122077800-122078400	Active TSS	Fetal Lung	lung
38	chr4:122077800-122078400	Active TSS	Placenta Amnion	Placenta Amnion
39	chr4:122077800-122078600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:122077800-122078600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:122077800-122078600	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr4:122077800-122078600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
43	chr4:122077800-122078600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
44	chr4:122077800-122078600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:122077800-122078600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:122077800-122078600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:122077800-122078600	Active TSS	Brain Germinal Matrix	brain
48	chr4:122077800-122078600	Active TSS	Fetal Brain Female	brain
49	chr4:122077800-122078600	Active TSS	A549	lung
50	chr4:122077800-122078600	Active TSS	NHDF-Ad	bronchial

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