Variant report

Variant	rs1891046
Chromosome Location	chr6:4910370-4910371
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4897821..4901952-chr6:4908622..4912007,3	MCF-7	breast:
2	chr6:4903747..4905738-chr6:4908891..4910683,2	K562	blood:
3	chr6:4909132..4912021-chr6:4912164..4915211,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1113341	0.92[EUR][1000 genomes]
rs3930304	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4144546	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4960047	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4960049	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62384665	0.90[ASN][1000 genomes]
rs6904931	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6924037	0.83[ASN][1000 genomes]
rs7738275	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7738459	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7739834	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7742807	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7759221	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7770206	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7771387	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9378917	0.95[ASN][1000 genomes]
rs9378918	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9378919	0.83[ASN][1000 genomes]
rs9378920	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9392068	0.89[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9392640	0.80[ASN][1000 genomes]
rs9392641	0.83[ASN][1000 genomes]
rs9405786	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1891046	TUBB2B	cis	cerebellum	SCAN
rs1891046	FOXC1	cis	cerebellum	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4890600-4913800	Weak transcription	Hela-S3	cervix
2	chr6:4893200-4912600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:4893600-4914000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:4895000-4917000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:4899200-4913000	Weak transcription	Ovary	ovary
6	chr6:4900000-4913600	Weak transcription	Brain Substantia Nigra	brain
7	chr6:4900200-4915200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:4900200-4918800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:4901600-4913400	Strong transcription	Fetal Stomach	stomach
10	chr6:4902000-4918400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr6:4903400-4912600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:4904200-4913800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:4904200-4914400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:4904800-4910600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:4905400-4912800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:4905600-4910400	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:4905800-4931200	Weak transcription	HepG2	liver
18	chr6:4906400-4911000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:4906400-4911000	Enhancers	Stomach Mucosa	stomach
20	chr6:4906600-4910800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:4906800-4912000	Weak transcription	Fetal Brain Female	brain
22	chr6:4906800-4913400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:4906800-4914000	Weak transcription	Fetal Kidney	kidney
24	chr6:4907000-4912800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr6:4907200-4911600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr6:4907400-4911000	Enhancers	Gastric	stomach
27	chr6:4907400-4914200	Weak transcription	Spleen	Spleen
28	chr6:4907400-4914600	Weak transcription	Fetal Intestine Large	intestine
29	chr6:4907600-4911000	Strong transcription	Fetal Muscle Leg	muscle
30	chr6:4907600-4912800	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:4907600-4913000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr6:4907600-4915600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:4907600-4925200	Weak transcription	Fetal Heart	heart
34	chr6:4907800-4910400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:4908000-4910400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr6:4908000-4935600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr6:4908200-4913600	Weak transcription	HUVEC	blood vessel
38	chr6:4908200-4917000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:4908200-4934800	Weak transcription	Primary B cells from cord blood	blood
40	chr6:4908400-4911000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr6:4908400-4912400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:4908400-4913600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:4908400-4913600	Weak transcription	Fetal Lung	lung
44	chr6:4908400-4914000	Weak transcription	HMEC	breast
45	chr6:4908400-4914000	Weak transcription	Osteobl	bone
46	chr6:4908400-4914200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr6:4908400-4914200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:4908400-4914200	Weak transcription	HSMM	muscle
49	chr6:4908400-4914200	Weak transcription	NHLF	lung
50	chr6:4908600-4910400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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