Variant report

Variant	rs6929821
Chromosome Location	chr6:14126422-14126423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:14126134..14128275-chr6:14145417..14148224,2	K562	blood:
2	chr6:14124214..14127188-chr6:14133948..14136252,2	K562	blood:
3	chr6:14125688..14128104-chr6:14133586..14136252,2	K562	blood:
4	chr6:14117853..14119873-chr6:14124333..14126699,2	K562	blood:
5	chr6:14126024..14127966-chr6:14210878..14213533,2	K562	blood:

Variant related genes	Relation type
ENSG00000112149	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11753410	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12190061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529514	0.84[CHB][hapmap];0.95[CHD][hapmap];0.90[ASN][1000 genomes]
rs12530098	0.94[ASN][1000 genomes]
rs2235369	0.92[CHB][hapmap];0.95[CHD][hapmap];0.94[ASN][1000 genomes]
rs6926225	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6936285	0.99[ASN][1000 genomes]
rs72836542	0.89[ASN][1000 genomes]
rs853357	0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9464657	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027179	chr6:14058703-14223055	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6929821	WDR44	trans	cerebellum	SCAN
rs6929821	RNF182	cis	parietal	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14118600-14134600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:14118800-14128000	Weak transcription	Fetal Stomach	stomach
3	chr6:14118800-14128400	Weak transcription	Thymus	Thymus
4	chr6:14118800-14129400	Weak transcription	Fetal Intestine Small	intestine
5	chr6:14118800-14129600	Weak transcription	Brain Angular Gyrus	brain
6	chr6:14118800-14130000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:14119000-14126600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:14119000-14127800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:14119000-14128200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:14119000-14128400	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:14119000-14131600	Weak transcription	Lung	lung
12	chr6:14119000-14134600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:14119000-14144800	Weak transcription	Left Ventricle	heart
14	chr6:14119200-14127800	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:14119200-14127800	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:14119200-14129200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr6:14119200-14129600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:14119400-14129400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:14119400-14129400	Weak transcription	Fetal Brain Male	brain
20	chr6:14119400-14130400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:14119400-14131600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr6:14119400-14133000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:14119400-14135800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr6:14119600-14128000	Weak transcription	Fetal Lung	lung
25	chr6:14119600-14134600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:14119800-14128800	Weak transcription	Fetal Kidney	kidney
27	chr6:14119800-14134600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:14120600-14126800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
29	chr6:14120800-14134800	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr6:14121000-14128600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:14121000-14130200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:14122600-14126800	Enhancers	Adipose Nuclei	Adipose
33	chr6:14122600-14127200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:14122600-14131400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr6:14122600-14134800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:14122800-14128000	Weak transcription	Dnd41	blood
37	chr6:14122800-14128200	Weak transcription	K562	blood
38	chr6:14122800-14130000	Weak transcription	Spleen	Spleen
39	chr6:14124000-14126800	Strong transcription	Primary T cells from cord blood	blood
40	chr6:14124600-14129400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:14124600-14131400	Genic enhancers	Primary B cells from cord blood	blood
42	chr6:14124600-14132800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:14124600-14141400	Weak transcription	Brain Substantia Nigra	brain
44	chr6:14124800-14128000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr6:14124800-14128400	Weak transcription	Psoas Muscle	Psoas
46	chr6:14124800-14129800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:14124800-14131600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr6:14125000-14126800	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr6:14125000-14129600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:14125000-14132200	Weak transcription	Primary monocytes fromperipheralblood	blood

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