Variant report

Variant	rs139050654
Chromosome Location	chr8:10616546-10616547
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10615706..10617702-chr8:10620374..10622044,2	K562	blood:
2	chr8:10613644..10615982-chr8:10616006..10618005,2	MCF-7	breast:
3	chr8:10615290..10617626-chr8:10678525..10680394,2	K562	blood:
4	chr8:10616130..10621063-chr8:10631004..10634975,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PINX1-1	chr8:10615296-10618693	NONHSAT125016

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1022582	chr8:10571218-10636162	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv539468	chr8:10571218-10636162	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
8	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
10	nsv519768	chr8:10600254-10691993	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1024806	chr8:10605438-10662555	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
13	nsv1031709	chr8:10610545-10657726	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv2764105	chr8:10610557-10657726	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv519376	chr8:10611708-10691993	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
16	nsv429860	chr8:10615990-10685890	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10610000-10621400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:10610600-10620400	Weak transcription	HepG2	liver
3	chr8:10610800-10622200	Weak transcription	Primary B cells from cord blood	blood
4	chr8:10610800-10662000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:10611200-10624400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:10612600-10617600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:10612600-10621600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:10612800-10621600	Weak transcription	Spleen	Spleen
9	chr8:10613200-10622600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:10613400-10621600	Weak transcription	Aorta	Aorta
11	chr8:10613600-10618400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:10613600-10618800	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:10613800-10617800	Weak transcription	Ovary	ovary
14	chr8:10614200-10616600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:10614200-10621400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:10614400-10634200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:10614600-10616600	Weak transcription	K562	blood
18	chr8:10614800-10616800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:10614800-10617200	Weak transcription	Esophagus	oesophagus
20	chr8:10614800-10617400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:10614800-10617600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:10614800-10617600	Weak transcription	HMEC	breast
23	chr8:10614800-10617600	Weak transcription	NHEK	skin
24	chr8:10614800-10617800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:10614800-10618400	Weak transcription	Placenta	Placenta
26	chr8:10614800-10618600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:10614800-10621400	Weak transcription	Left Ventricle	heart
28	chr8:10614800-10621400	Weak transcription	Lung	lung
29	chr8:10614800-10621800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:10614800-10622000	Weak transcription	Hela-S3	cervix
31	chr8:10615000-10621400	Weak transcription	Adipose Nuclei	Adipose
32	chr8:10615200-10618400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:10615400-10620800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr8:10615400-10621400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:10615600-10621600	Weak transcription	Dnd41	blood
36	chr8:10615800-10621400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:10615800-10621600	Weak transcription	Gastric	stomach
38	chr8:10616000-10617800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:10616200-10616800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:10616200-10617200	Strong transcription	Stomach Smooth Muscle	stomach
41	chr8:10616200-10617800	Strong transcription	Primary T cells from cord blood	blood

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