Variant report

Variant	rs2500527
Chromosome Location	chr6:149316200-149316201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149310432..149312307-chr6:149315624..149317638,2	K562	blood:
2	chr6:149304512..149306410-chr6:149314049..149316728,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10080240	0.87[EUR][1000 genomes]
rs1343742	0.86[EUR][1000 genomes]
rs2185248	0.88[EUR][1000 genomes]
rs2340750	0.87[EUR][1000 genomes]
rs2449385	0.90[ASN][1000 genomes]
rs2486387	0.87[EUR][1000 genomes]
rs2486388	0.87[EUR][1000 genomes]
rs2486389	0.88[EUR][1000 genomes]
rs2486393	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2486394	0.88[EUR][1000 genomes]
rs2486419	0.87[EUR][1000 genomes]
rs2486420	0.87[EUR][1000 genomes]
rs2500523	0.86[AMR][1000 genomes]
rs2500524	0.83[ASN][1000 genomes]
rs2500531	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2500532	0.88[EUR][1000 genomes]
rs2500534	0.88[EUR][1000 genomes]
rs2500537	0.87[EUR][1000 genomes]
rs2500538	0.87[EUR][1000 genomes]
rs2500540	0.86[EUR][1000 genomes]
rs2500541	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7759757	0.89[AMR][1000 genomes];0.89[EUR][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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149286800-149320600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:149292800-149321200	Weak transcription	Aorta	Aorta
3	chr6:149294000-149320400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:149294200-149319400	Weak transcription	HSMMtube	muscle
5	chr6:149300000-149319800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:149300800-149317600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:149302800-149316200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:149305400-149381400	Weak transcription	Gastric	stomach
9	chr6:149306200-149319400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:149306400-149316800	Weak transcription	Fetal Heart	heart
11	chr6:149308000-149319600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:149308200-149320600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:149308400-149320400	Weak transcription	Right Ventricle	heart
14	chr6:149309600-149317000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:149310200-149319600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:149310200-149335200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:149311000-149319400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:149311000-149321000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:149311000-149321200	Weak transcription	Pancreas	Pancrea
20	chr6:149311000-149335200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:149311200-149316600	Weak transcription	Primary B cells from cord blood	blood
22	chr6:149311400-149316600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr6:149312000-149317600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:149312200-149317600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:149312400-149317600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:149312600-149321000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:149314000-149317800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:149314400-149319800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:149314400-149321200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr6:149314800-149327400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:149315000-149316400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:149315000-149318000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:149315000-149319000	Weak transcription	Ovary	ovary
34	chr6:149315000-149319800	Weak transcription	Fetal Muscle Leg	muscle
35	chr6:149315000-149320800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:149315000-149322200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr6:149315200-149316200	Weak transcription	Fetal Stomach	stomach
38	chr6:149316000-149317200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:149316200-149317000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:149316200-149317200	Strong transcription	Fetal Stomach	stomach

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