Variant report

Variant	rs2500522
Chromosome Location	chr6:149310677-149310678
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:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1934224	0.83[CHB][hapmap]
rs2449385	0.82[CEU][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs2500523	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs9404012	0.83[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2500522	C6orf211	cis	cerebellum	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149286800-149320600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:149289200-149314600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:149290800-149311800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:149292800-149321200	Weak transcription	Aorta	Aorta
5	chr6:149294000-149320400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:149294200-149319400	Weak transcription	HSMMtube	muscle
7	chr6:149296000-149311400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:149300000-149319800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:149300800-149317600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:149302000-149311600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:149302800-149316200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:149304400-149314000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:149304800-149311600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:149305200-149311800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:149305400-149381400	Weak transcription	Gastric	stomach
16	chr6:149306000-149311600	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:149306200-149319400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:149306400-149316800	Weak transcription	Fetal Heart	heart
19	chr6:149307200-149311400	Enhancers	Primary B cells from peripheral blood	blood
20	chr6:149308000-149319600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:149308200-149311200	Enhancers	Primary B cells from cord blood	blood
22	chr6:149308200-149320600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:149308400-149312000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr6:149308400-149320400	Weak transcription	Right Ventricle	heart
25	chr6:149309200-149311000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr6:149309200-149311200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr6:149309200-149312200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:149309400-149311000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:149309400-149314200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:149309400-149314800	Weak transcription	Fetal Stomach	stomach
31	chr6:149309600-149312000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr6:149309600-149317000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:149309800-149311200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:149309800-149311200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr6:149309800-149311600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr6:149309800-149311600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr6:149310000-149310800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr6:149310000-149310800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:149310000-149310800	Enhancers	Brain Germinal Matrix	brain
40	chr6:149310000-149310800	Enhancers	Brain Hippocampus Middle	brain
41	chr6:149310000-149311000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr6:149310000-149311600	Enhancers	Fetal Kidney	kidney
43	chr6:149310000-149311800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:149310000-149311800	Enhancers	Colon Smooth Muscle	Colon
45	chr6:149310200-149310800	Weak transcription	Dnd41	blood
46	chr6:149310200-149311000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr6:149310200-149311200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:149310200-149319600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:149310200-149335200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:149310400-149314800	Weak transcription	Ovary	ovary

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