Variant report

Variant	rs9295228
Chromosome Location	chr6:164133184-164133185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:164130686..164133462-chr6:164319351..164322024,2	K562	blood:
2	chr6:164131958..164136902-chr6:164137750..164142946,6	K562	blood:
3	chr6:164128182..164130278-chr6:164132166..164136192,3	K562	blood:
4	chr6:164132884..164135744-chr6:164150540..164152159,2	K562	blood:
5	chr6:164131958..164135418-chr6:164137750..164141579,4	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs750811	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9346969	0.98[ASN][1000 genomes]
rs9346971	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9347778	0.96[ASN][1000 genomes]
rs9347779	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9365598	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2758092	chr6:163992064-164161903	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2759490	chr6:163992064-164161903	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1019107	chr6:164056423-164144164	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1025171	chr6:164113981-164170027	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9295228	MXRA7	trans	lymphoblastoid	seeQTL

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164121200-164135200	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:164121800-164135400	Enhancers	Primary B cells from cord blood	blood
3	chr6:164127200-164134400	Enhancers	Fetal Muscle Leg	muscle
4	chr6:164127200-164135400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:164127200-164135400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:164127800-164133600	Enhancers	Left Ventricle	heart
7	chr6:164127800-164135600	Enhancers	Fetal Muscle Trunk	muscle
8	chr6:164128000-164133400	Weak transcription	Esophagus	oesophagus
9	chr6:164128400-164133400	Enhancers	Adipose Nuclei	Adipose
10	chr6:164128400-164134000	Enhancers	Right Ventricle	heart
11	chr6:164128600-164134400	Enhancers	Lung	lung
12	chr6:164128600-164134400	Enhancers	Right Atrium	heart
13	chr6:164128800-164133600	Enhancers	Stomach Smooth Muscle	stomach
14	chr6:164129000-164134800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr6:164129200-164133400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:164130000-164133200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:164130000-164133400	Enhancers	Brain Cingulate Gyrus	brain
18	chr6:164130000-164134400	Enhancers	Primary hematopoietic stem cells	blood
19	chr6:164130000-164134800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:164130400-164134000	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr6:164130800-164133200	Enhancers	Brain Anterior Caudate	brain
22	chr6:164130800-164133200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:164130800-164133400	Enhancers	Brain Substantia Nigra	brain
24	chr6:164130800-164134200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr6:164131000-164133200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:164131000-164133200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:164131000-164134200	Enhancers	Placenta	Placenta
28	chr6:164131000-164151600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:164131200-164134400	Enhancers	K562	blood
30	chr6:164131600-164134200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:164132000-164133200	Weak transcription	Colonic Mucosa	Colon
32	chr6:164132000-164133400	Enhancers	Colon Smooth Muscle	Colon
33	chr6:164132200-164133200	Enhancers	Brain Angular Gyrus	brain
34	chr6:164132200-164134000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr6:164132200-164134000	Enhancers	NHDF-Ad	bronchial
36	chr6:164132200-164134200	Enhancers	Fetal Thymus	thymus
37	chr6:164132200-164134200	Enhancers	HSMM	muscle
38	chr6:164132400-164133200	Enhancers	GM12878-XiMat	blood
39	chr6:164132400-164133400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr6:164132400-164133400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr6:164132400-164133400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr6:164132600-164133200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:164132600-164133200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr6:164132600-164134000	Enhancers	Primary T cells from cord blood	blood
45	chr6:164132800-164133600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr6:164132800-164133600	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr6:164132800-164133800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:164132800-164133800	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr6:164132800-164134000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr6:164132800-164134000	Enhancers	Pancreas	Pancrea

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