Variant report

Variant	rs210134
Chromosome Location	chr6:33540209-33540210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33532988..33536659-chr6:33537187..33540995,4	K562	blood:
2	chr6:33356979..33359554-chr6:33539289..33540812,2	K562	blood:
3	chr6:33537717..33540253-chr6:33551095..33553614,2	K562	blood:
4	chr6:33375962..33378534-chr6:33537596..33540481,2	K562	blood:
5	chr6:33392929..33396981-chr6:33537285..33540754,6	MCF-7	breast:
6	chr6:33379174..33381010-chr6:33538458..33541414,2	K562	blood:
7	chr6:33521966..33523890-chr6:33538624..33540317,3	MCF-7	breast:
8	chr6:33392424..33395335-chr6:33538728..33540669,5	K562	blood:
9	chr6:33357812..33359554-chr6:33539312..33540834,2	K562	blood:
10	chr6:33537234..33540947-chr6:33547325..33549534,4	K562	blood:
11	chr6:33537267..33540253-chr6:33551095..33553614,3	K562	blood:
12	chr6:33538816..33540942-chr6:33543611..33545834,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204188	Chromatin interaction
ENSG00000030110	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000225644	Chromatin interaction
ENSG00000237649	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs210142	1.00[CEU][hapmap];0.84[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs210143	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs449242	0.86[YRI][hapmap]
rs513349	0.83[LWK][hapmap];0.87[YRI][hapmap]
rs549888	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv519079	chr6:33540209-33542538	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

Variant related diseases (count:5)

Disease	PMID	Source
Platelet counts	24026423	GWAS catalog
Platelet counts	22139419	GWAS catalog
Mean platelet volume	22423221	GWAS catalog
Platelet counts	23263863	GWAS catalog
Chronic lymphocytic leukemia	24292274	GWAS catalog

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs210134	BAK1	Cis_1M	lymphoblastoid	RTeQTL
rs210134	BAK1	cis	lung	GTEx
rs210134	BAK1	cis	lymphoblastoid	GTEx
rs210134	BAK1	cis	Esophagus Mucosa	GTEx
rs210134	MAPK13	cis	parietal	SCAN
rs210134	C11orf41	trans	cerebellum	SCAN
rs210134	BAK1	cis	lymphoblastoid	seeQTL
rs210134	BAK1	cis	Skin Sun Exposed Lower leg	GTEx
rs210134	BAK1	cis	Whole Blood	GTEx
rs210134	BAK1	cis	Muscle Skeletal	GTEx
rs210134	BAK1	cis	Adipose Subcutaneous	GTEx
rs210134	LEMD2	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33539200-33541600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:33539200-33547200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:33539400-33541400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:33539400-33541600	Weak transcription	Ovary	ovary
5	chr6:33539400-33541800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:33539600-33540400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:33539600-33540400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:33539600-33540400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:33539600-33540400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:33539600-33540400	Genic enhancers	Placenta	Placenta
11	chr6:33539600-33540400	Strong transcription	NHLF	lung
12	chr6:33539600-33541600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:33539600-33541600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:33539600-33541600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:33539600-33541800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:33539600-33541800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:33539600-33541800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr6:33539600-33541800	Weak transcription	Small Intestine	intestine
19	chr6:33539600-33542000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:33539600-33542000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:33539600-33542000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr6:33539600-33542000	Weak transcription	HUVEC	blood vessel
23	chr6:33539600-33542800	Weak transcription	A549	lung
24	chr6:33539600-33546200	Weak transcription	NHDF-Ad	bronchial
25	chr6:33539600-33546400	Weak transcription	Fetal Brain Male	brain
26	chr6:33539600-33547000	Weak transcription	Fetal Kidney	kidney
27	chr6:33539800-33540400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr6:33539800-33540400	Enhancers	Primary B cells from peripheral blood	blood
29	chr6:33539800-33540400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr6:33539800-33540400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:33539800-33540400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr6:33539800-33540400	Enhancers	Brain Angular Gyrus	brain
33	chr6:33539800-33540400	Genic enhancers	Duodenum Mucosa	Duodenum
34	chr6:33539800-33540400	Genic enhancers	Fetal Thymus	thymus
35	chr6:33539800-33540400	Genic enhancers	Rectal Mucosa Donor 29	rectum
36	chr6:33539800-33540400	Enhancers	Thymus	Thymus
37	chr6:33539800-33540400	Strong transcription	HMEC	breast
38	chr6:33539800-33540400	Strong transcription	NHEK	skin
39	chr6:33539800-33540600	Genic enhancers	Primary T cells fromperipheralblood	blood
40	chr6:33539800-33540800	Weak transcription	Adipose Nuclei	Adipose
41	chr6:33539800-33541000	Weak transcription	Brain Germinal Matrix	brain
42	chr6:33539800-33541200	Weak transcription	Fetal Brain Female	brain
43	chr6:33539800-33541200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr6:33539800-33541200	Weak transcription	Osteobl	bone
45	chr6:33539800-33541400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:33539800-33541400	Weak transcription	Aorta	Aorta
47	chr6:33539800-33541600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr6:33539800-33541600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:33539800-33541600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr6:33539800-33541600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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