Variant report

Variant	rs1934226
Chromosome Location	chr6:149417022-149417023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149411028..149414367-chr6:149415075..149417889,3	MCF-7	breast:
2	chr6:149405339..149407233-chr6:149416159..149418196,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1890611	0.81[ASN][1000 genomes]
rs2486410	0.81[AMR][1000 genomes]
rs2486414	1.00[CEU][hapmap];0.80[MEX][hapmap]
rs2500545	0.86[MEX][hapmap]
rs2500548	1.00[CEU][hapmap]
rs9390651	0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv830842	chr6:149272321-149427340	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1024776	chr6:149398652-149654593	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1934226	CD93	trans	lymphoblastoid	seeQTL
rs1934226	KCTD14	trans	lymphoblastoid	seeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149410800-149418400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:149414200-149417600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr6:149414200-149418400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:149414600-149417200	Enhancers	Fetal Stomach	stomach
5	chr6:149414600-149417400	Enhancers	Rectal Smooth Muscle	rectum
6	chr6:149414600-149417600	Enhancers	Primary T cells from cord blood	blood
7	chr6:149414800-149418000	Enhancers	Primary hematopoietic stem cells	blood
8	chr6:149415000-149417400	Enhancers	Fetal Kidney	kidney
9	chr6:149415200-149417200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:149415200-149418200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr6:149415200-149419800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:149415400-149418400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:149415600-149418000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:149415800-149417800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr6:149416000-149417600	Flanking Active TSS	Dnd41	blood
16	chr6:149416200-149417400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:149416200-149417400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:149416200-149418800	Weak transcription	Fetal Lung	lung
19	chr6:149416400-149417200	Enhancers	Adipose Nuclei	Adipose
20	chr6:149416400-149417800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr6:149416400-149417800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr6:149416400-149417800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr6:149416400-149418000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr6:149416400-149418000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:149416400-149418800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr6:149416400-149418800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:149416400-149418800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:149416600-149417200	Weak transcription	GM12878-XiMat	blood
29	chr6:149416600-149418200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr6:149416800-149418400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr6:149417000-149417200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:149417000-149417200	Enhancers	Ovary	ovary
33	chr6:149417000-149417400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:149417000-149417400	Enhancers	Fetal Thymus	thymus
35	chr6:149417000-149417600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:149417000-149418000	Enhancers	Placenta Amnion	Placenta Amnion

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