Variant report

Variant	rs1342979
Chromosome Location	chr6:37592973-37592974
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37592829..37595564-chr6:37597179..37600558,4	MCF-7	breast:
2	chr6:37467585..37469097-chr6:37592416..37594096,2	K562	blood:
3	chr6:37592843..37595910-chr6:37605648..37608604,4	K562	blood:
4	chr6:37587258..37590079-chr6:37590589..37593405,2	K562	blood:
5	chr6:37590156..37593424-chr6:37597234..37601597,4	K562	blood:
6	chr6:37591872..37593906-chr6:37631724..37634483,2	K562	blood:
7	chr6:37592329..37594327-chr6:37602082..37603969,2	MCF-7	breast:
8	chr6:37590338..37593047-chr6:37604192..37605778,2	K562	blood:
9	chr6:37536776..37539580-chr6:37592890..37596522,3	MCF-7	breast:
10	chr6:37583299..37586472-chr6:37588985..37593847,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112139	Chromatin interaction
ENSG00000198937	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs804823	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs804842	1.00[AMR][1000 genomes]
rs9470658	1.00[AMR][1000 genomes]
rs9470659	1.00[AMR][1000 genomes]
rs9470664	1.00[AMR][1000 genomes]

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	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers 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
3	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv602955	chr6:37581200-37599962	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37586600-37593800	Enhancers	Primary B cells from cord blood	blood
2	chr6:37589200-37593200	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr6:37589800-37593000	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr6:37590600-37593400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:37591000-37593400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:37591000-37593400	Enhancers	NHDF-Ad	bronchial
7	chr6:37591600-37593200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:37591600-37593600	Enhancers	NH-A	brain
9	chr6:37592000-37593200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr6:37592000-37593200	Enhancers	Fetal Brain Male	brain
11	chr6:37592000-37593600	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:37592000-37593600	Enhancers	Gastric	stomach
13	chr6:37592000-37593800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr6:37592000-37593800	Enhancers	Spleen	Spleen
15	chr6:37592200-37593000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
16	chr6:37592200-37593200	Flanking Active TSS	Hela-S3	cervix
17	chr6:37592200-37593600	Bivalent Enhancer	Placenta	Placenta
18	chr6:37592200-37593800	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr6:37592400-37593000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:37592400-37593000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:37592400-37593000	Enhancers	Ovary	ovary
22	chr6:37592400-37593200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:37592400-37593200	Flanking Active TSS	A549	lung
24	chr6:37592400-37593400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr6:37592400-37593400	Bivalent Enhancer	Colon Smooth Muscle	Colon
26	chr6:37592400-37593400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
27	chr6:37592400-37593600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:37592400-37593600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:37592400-37593600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:37592400-37593600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:37592400-37593600	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr6:37592400-37593600	Bivalent Enhancer	Fetal Lung	lung
33	chr6:37592400-37593600	Enhancers	Left Ventricle	heart
34	chr6:37592400-37593600	Enhancers	Lung	lung
35	chr6:37592400-37593600	Enhancers	Pancreas	Pancrea
36	chr6:37592400-37593600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr6:37592400-37593600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
38	chr6:37592400-37593800	Bivalent Enhancer	Fetal Stomach	stomach
39	chr6:37592400-37594400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
40	chr6:37592600-37593000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
41	chr6:37592600-37593000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:37592600-37593000	Active TSS	Fetal Brain Female	brain
43	chr6:37592600-37593000	Flanking Active TSS	HMEC	breast
44	chr6:37592600-37593200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr6:37592600-37593200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr6:37592600-37593200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:37592600-37593200	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr6:37592600-37593200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
49	chr6:37592600-37593200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
50	chr6:37592600-37593200	Flanking Active TSS	Right Atrium	heart

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