Variant report

Variant	rs334135
Chromosome Location	chr2:128220387-128220388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr2:128220053-128220482	GM12878	blood:	n/a	n/a
2	BATF	chr2:128220144-128220424	GM12878	blood:	n/a	n/a
3	SPI1	chr2:128220172-128220406	GM12891	blood:	n/a	n/a
4	BATF	chr2:128220093-128220450	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000231731	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10928765	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs11892245	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12151780	0.80[AMR][1000 genomes]
rs12464295	0.81[AMR][1000 genomes]
rs2069933	0.84[CEU][hapmap]
rs4662730	0.88[CEU][hapmap]
rs4662732	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5936	0.88[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	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs334135	AC068282.3	cis	Heart Left Ventricle	GTEx
rs334135	AC068282.3	cis	Artery Tibial	GTEx
rs334135	AC068282.3	cis	Whole Blood	GTEx
rs334135	AC068282.3	cis	Adipose Subcutaneous	GTEx
rs334135	AC068282.3	cis	Muscle Skeletal	GTEx
rs334135	AC068282.3	cis	Thyroid	GTEx
rs334135	AC068282.3	cis	Esophagus Mucosa	GTEx
rs334135	AC068282.3	cis	Esophagus Muscularis	GTEx
rs334135	AC068282.3	cis	lung	GTEx
rs334135	AC068282.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128204800-128225600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:128205400-128223600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:128205400-128223800	Weak transcription	Placenta	Placenta
4	chr2:128205800-128223600	Weak transcription	Thymus	Thymus
5	chr2:128205800-128223800	Weak transcription	Lung	lung
6	chr2:128206000-128224000	Weak transcription	Psoas Muscle	Psoas
7	chr2:128206200-128237800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:128206800-128233600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:128207000-128221000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:128208400-128238800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:128208800-128226000	Weak transcription	Brain Anterior Caudate	brain
12	chr2:128209000-128238000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:128209200-128221000	Weak transcription	Fetal Stomach	stomach
14	chr2:128209200-128223600	Weak transcription	Primary B cells from cord blood	blood
15	chr2:128209200-128223600	Weak transcription	Aorta	Aorta
16	chr2:128209200-128225400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:128209200-128237600	Weak transcription	Adipose Nuclei	Adipose
18	chr2:128209400-128223600	Weak transcription	Spleen	Spleen
19	chr2:128210000-128221800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:128210000-128223600	Weak transcription	Brain Substantia Nigra	brain
21	chr2:128210000-128226400	Weak transcription	Esophagus	oesophagus
22	chr2:128210000-128227200	Weak transcription	Left Ventricle	heart
23	chr2:128210000-128237600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:128210200-128238000	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:128210400-128222200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr2:128210600-128225200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:128211200-128225400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:128211200-128225600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr2:128211400-128222000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:128211400-128226600	Weak transcription	Ovary	ovary
31	chr2:128211600-128222000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr2:128211600-128226800	Weak transcription	Brain Angular Gyrus	brain
33	chr2:128211600-128227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:128211600-128237600	Weak transcription	Right Ventricle	heart
35	chr2:128211800-128223600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:128212200-128226800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:128213000-128221200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:128213000-128223800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:128213000-128237600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:128213200-128225400	Weak transcription	Dnd41	blood
41	chr2:128213200-128237800	Weak transcription	Colonic Mucosa	Colon
42	chr2:128213400-128237800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:128213600-128221000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:128213600-128223400	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:128213600-128225200	Weak transcription	A549	lung
46	chr2:128213600-128225400	Weak transcription	Pancreas	Pancrea
47	chr2:128213600-128226600	Weak transcription	Gastric	stomach
48	chr2:128213600-128237600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:128213600-128237800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr2:128213800-128221400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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