Variant report

Variant	rs3098974
Chromosome Location	chr2:172950073-172950074
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13390848	0.94[CEU][hapmap]
rs3814049	0.81[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3098974	DLX1	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172945000-172951400	Enhancers	Pancreas	Pancrea
2	chr2:172946400-172953200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
3	chr2:172947000-172951400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:172947400-172953000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
5	chr2:172948400-172950200	Bivalent Enhancer	Liver	Liver
6	chr2:172948600-172950400	Bivalent Enhancer	Spleen	Spleen
7	chr2:172948800-172950200	Active TSS	Hela-S3	cervix
8	chr2:172948800-172950800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
9	chr2:172948800-172951400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:172948800-172951800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
11	chr2:172948800-172951800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
12	chr2:172948800-172952400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr2:172949000-172950200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
14	chr2:172949000-172950200	Flanking Active TSS	Right Ventricle	heart
15	chr2:172949000-172950400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:172949000-172950600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
17	chr2:172949000-172950800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:172949000-172950800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
19	chr2:172949000-172951200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
20	chr2:172949000-172951400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:172949000-172951400	Bivalent Enhancer	Fetal Brain Male	brain
22	chr2:172949000-172951600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
23	chr2:172949000-172952000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
24	chr2:172949000-172952200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr2:172949000-172952800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
26	chr2:172949200-172950200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr2:172949200-172950200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr2:172949200-172950200	Bivalent/Poised TSS	Aorta	Aorta
29	chr2:172949200-172950200	Flanking Bivalent TSS/Enh	Thymus	Thymus
30	chr2:172949200-172950400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:172949200-172950400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr2:172949200-172950400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
33	chr2:172949200-172950600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:172949200-172950600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
35	chr2:172949200-172950600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
36	chr2:172949200-172950600	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
37	chr2:172949200-172950800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr2:172949200-172950800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:172949200-172950800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
40	chr2:172949200-172950800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
41	chr2:172949200-172950800	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:172949200-172950800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
43	chr2:172949200-172950800	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
44	chr2:172949200-172950800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:172949200-172950800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:172949200-172950800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
47	chr2:172949200-172950800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
48	chr2:172949200-172950800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr2:172949200-172950800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
50	chr2:172949200-172950800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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