Variant report

Variant	rs2340750
Chromosome Location	chr6:149327383-149327384
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	chr6:149326735..149329434-chr6:149335396..149337104,2	K562	blood:
2	chr6:149320919..149324132-chr6:149326009..149328937,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10080240	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1343742	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2185248	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2449385	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2486387	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2486388	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2486389	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2486393	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2486394	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2486419	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2486420	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2500523	0.81[EUR][1000 genomes]
rs2500524	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2500527	0.87[EUR][1000 genomes]
rs2500529	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2500531	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2500532	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2500534	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2500537	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2500538	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2500540	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2500541	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6911303	0.81[EUR][1000 genomes]
rs7759757	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032690	chr6:149206106-149398712	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv830842	chr6:149272321-149427340	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149305400-149381400	Weak transcription	Gastric	stomach
2	chr6:149310200-149335200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:149311000-149335200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:149314800-149327400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:149320200-149335400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:149320200-149344800	Weak transcription	Left Ventricle	heart
7	chr6:149321600-149336000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:149321600-149340600	Weak transcription	Aorta	Aorta
9	chr6:149321800-149328800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:149321800-149328800	Weak transcription	Ovary	ovary
11	chr6:149321800-149332600	Weak transcription	HSMMtube	muscle
12	chr6:149321800-149335000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:149321800-149340200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:149321800-149349800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:149322600-149334400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:149323000-149333000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:149323000-149333000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:149323000-149334400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr6:149323000-149334600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:149323000-149335600	Weak transcription	Fetal Lung	lung
21	chr6:149323000-149342600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:149323600-149335600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:149323800-149333000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:149324200-149329600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:149324600-149334600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:149325200-149333000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:149325400-149327600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:149325400-149328200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:149325800-149332600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:149326200-149327600	Strong transcription	Dnd41	blood
31	chr6:149326600-149327400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:149326800-149327400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr6:149326800-149332600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:149326800-149333000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:149327000-149327400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr6:149327000-149327400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr6:149327200-149331400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:149327200-149333200	Weak transcription	Lung	lung
39	chr6:149327200-149334200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:149327200-149334600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr6:149327200-149334800	Weak transcription	Fetal Stomach	stomach
42	chr6:149327200-149335200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr6:149327200-149340200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr6:149327200-149340600	Weak transcription	Primary B cells from cord blood	blood
45	chr6:149327200-149353000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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