Variant report

Variant	rs1547669
Chromosome Location	chr6:33775641-33775642
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	MAX	chr6:33775497-33775737	NB4	blood:	n/a	chr6:33775596-33775606 chr6:33775597-33775608
2	RUNX3	chr6:33775468-33775690	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:33774712..33778330-chr6:33783087..33786924,3	K562	blood:
2	chr6:33759898..33762472-chr6:33773491..33776525,3	K562	blood:
3	chr6:33773235..33775828-chr6:33782693..33785367,2	K562	blood:
4	chr6:33770966..33772879-chr6:33773435..33775857,2	K562	blood:

Variant related genes	Relation type
MLN	TF binding region
ENSG00000096395	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10947439	0.85[CHB][hapmap];0.86[CHD][hapmap];0.93[JPT][hapmap];0.96[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1547670	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886355	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2281816	0.80[ASW][hapmap]
rs3763260	0.80[ASW][hapmap]
rs7774407	0.93[JPT][hapmap]
rs9394169	0.85[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]

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	nsv462897	chr6:33717770-33778964	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv602839	chr6:33717770-33778964	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1547669	BAK1	cis	lymphoblastoid	seeQTL
rs1547669	LEMD2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33757600-33775800	Weak transcription	Right Atrium	heart
2	chr6:33766000-33776000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:33766800-33776400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:33770400-33776000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:33770600-33776200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:33771000-33776200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:33771400-33777000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:33772400-33775800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:33772400-33776200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:33773200-33777400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:33773200-33777400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:33774400-33777600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:33774600-33776200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:33774800-33775800	Enhancers	Brain Germinal Matrix	brain
15	chr6:33774800-33775800	Enhancers	Fetal Muscle Leg	muscle
16	chr6:33774800-33776200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr6:33774800-33776400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr6:33774800-33776400	Bivalent Enhancer	Adipose Nuclei	Adipose
19	chr6:33775000-33775800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:33775000-33776200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
21	chr6:33775000-33776400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr6:33775000-33776400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr6:33775000-33776400	Enhancers	Left Ventricle	heart
24	chr6:33775000-33776400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr6:33775000-33776600	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr6:33775000-33777000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:33775200-33775800	Enhancers	Primary B cells from cord blood	blood
28	chr6:33775200-33776000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
29	chr6:33775200-33776000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:33775200-33776000	Enhancers	Spleen	Spleen
31	chr6:33775200-33776000	Bivalent Enhancer	HUVEC	blood vessel
32	chr6:33775200-33776200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr6:33775200-33776400	Bivalent Enhancer	Primary T cells from cord blood	blood
34	chr6:33775200-33776400	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr6:33775200-33776400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr6:33775200-33776400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:33775200-33776800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:33775200-33777200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr6:33775400-33775800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr6:33775400-33775800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
41	chr6:33775400-33775800	Bivalent Enhancer	Fetal Thymus	thymus
42	chr6:33775400-33775800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
43	chr6:33775400-33776000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:33775400-33776000	Bivalent Enhancer	Dnd41	blood
45	chr6:33775400-33776200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
46	chr6:33775400-33776200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:33775400-33777600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:33775600-33776000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:33775600-33776000	Bivalent Enhancer	GM12878-XiMat	blood
50	chr6:33775600-33778000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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