Variant report

Variant	rs4678258
Chromosome Location	chr3:137945192-137945193
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:137944317..137946260-chr3:137948275..137950383,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17204145	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2293033	0.88[JPT][hapmap]
rs774800	0.80[CHD][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877536	chr3:137870523-137970907	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137908400-137956200	Weak transcription	A549	lung
2	chr3:137919200-137964800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:137926000-137951200	Weak transcription	Fetal Heart	heart
4	chr3:137929800-137947000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:137938600-137950200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr3:137938800-137947600	Strong transcription	GM12878-XiMat	blood
7	chr3:137940000-137950000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:137940200-137970600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:137940400-137951800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:137940400-137953200	Strong transcription	HSMM	muscle
11	chr3:137940400-137969200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:137940400-137970600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:137940600-137945800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:137940600-137952400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:137940600-137971200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:137940800-137952200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr3:137941000-137952200	Strong transcription	Placenta	Placenta
18	chr3:137941000-137952400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr3:137941000-137968200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr3:137941000-137968600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:137941400-137949200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:137941400-137952200	Strong transcription	Fetal Intestine Large	intestine
23	chr3:137941600-137945200	Strong transcription	Left Ventricle	heart
24	chr3:137941600-137945400	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr3:137941600-137945400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:137941600-137945400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:137941600-137945400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:137941600-137945400	Strong transcription	Hela-S3	cervix
29	chr3:137941600-137945600	Strong transcription	Fetal Stomach	stomach
30	chr3:137941600-137946200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:137941600-137946200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:137941600-137946600	Strong transcription	Brain Angular Gyrus	brain
33	chr3:137941600-137946800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:137941600-137947000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr3:137941600-137947000	Strong transcription	Lung	lung
36	chr3:137941600-137947800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:137941600-137947800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:137941600-137947800	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr3:137941600-137948400	Strong transcription	Fetal Muscle Leg	muscle
40	chr3:137941600-137952000	Strong transcription	Thymus	Thymus
41	chr3:137941600-137952200	Strong transcription	Fetal Thymus	thymus
42	chr3:137941600-137957400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr3:137941600-137962400	Strong transcription	Liver	Liver
44	chr3:137941600-137967200	Strong transcription	Dnd41	blood
45	chr3:137941600-137968000	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr3:137941800-137945400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr3:137941800-137945400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:137941800-137945400	Strong transcription	Ovary	ovary
49	chr3:137941800-137946000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr3:137941800-137946200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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