Variant report

Variant	rs530991781
Chromosome Location	chr6:27656423-27656424
allele	A/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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27655370..27657742-chr6:27715050..27717959,2	K562	blood:
2	chr6:27202749..27204748-chr6:27656090..27658081,2	K562	blood:
3	chr6:27656133..27659088-chr6:27710854..27712483,2	K562	blood:
4	chr6:27655233..27656837-chr6:27693147..27694855,2	K562	blood:
5	chr6:27653789..27659338-chr6:27659392..27663401,13	K562	blood:
6	chr6:27644939..27650269-chr6:27651814..27657274,7	K562	blood:
7	chr6:27568300..27570576-chr6:27654240..27656534,2	K562	blood:
8	chr6:27655786..27657671-chr6:27777694..27780064,2	K562	blood:
9	chr6:27518096..27521091-chr6:27655240..27657826,2	K562	blood:
10	chr6:27114898..27117828-chr6:27655156..27657411,2	MCF-7	breast:
11	chr6:27654225..27656931-chr6:27719778..27721751,2	K562	blood:
12	chr6:27104177..27107088-chr6:27654712..27657071,2	K562	blood:
13	chr6:27526508..27528799-chr6:27655486..27657530,2	K562	blood:
14	chr6:27655564..27658376-chr6:27856463..27858379,2	K562	blood:
15	chr6:27656124..27658141-chr6:27861315..27864462,3	K562	blood:
16	chr6:27655233..27657099-chr6:27693355..27695720,2	K562	blood:
17	chr6:27654652..27657286-chr6:27777694..27780046,3	K562	blood:
18	chr6:27114783..27117247-chr6:27654285..27656648,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265565	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000203813	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv525669	chr6:27623511-27657647	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv883511	chr6:27623511-27660508	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	esv2830157	chr6:27634640-27657647	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv518945	chr6:27634640-27668013	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv437481	chr6:27655096-27683572	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv601204	chr6:27655564-27689502	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv1023808	chr6:27656049-27674354	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv601205	chr6:27656255-27730064	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27653600-27656600	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:27654200-27656600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr6:27654600-27656600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr6:27654800-27656600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:27654800-27656600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:27654800-27656600	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr6:27654800-27656600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:27654800-27656600	Active TSS	A549	lung
9	chr6:27654800-27656600	Flanking Active TSS	Dnd41	blood
10	chr6:27654800-27657200	Active TSS	K562	blood
11	chr6:27655000-27656600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr6:27655000-27656600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr6:27655000-27656600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:27655000-27656600	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr6:27655200-27656600	Active TSS	Fetal Brain Female	brain
16	chr6:27655200-27657000	Active TSS	Psoas Muscle	Psoas
17	chr6:27655400-27656600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:27655800-27656600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr6:27655800-27661400	Weak transcription	Lung	lung
20	chr6:27656000-27658200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:27656000-27658400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:27656200-27658000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:27656200-27661000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:27656200-27661600	Weak transcription	Adipose Nuclei	Adipose
25	chr6:27656200-27661600	Weak transcription	Right Atrium	heart
26	chr6:27656400-27656600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr6:27656400-27656600	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr6:27656400-27656600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:27656400-27656600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:27656400-27656600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:27656400-27656800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr6:27656400-27657000	Enhancers	Primary B cells from peripheral blood	blood
33	chr6:27656400-27657000	Weak transcription	Hela-S3	cervix
34	chr6:27656400-27657200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr6:27656400-27657200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr6:27656400-27658200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:27656400-27658200	Weak transcription	HepG2	liver
38	chr6:27656400-27658400	Weak transcription	NHEK	skin
39	chr6:27656400-27660200	Weak transcription	GM12878-XiMat	blood
40	chr6:27656400-27660800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:27656400-27661000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:27656400-27661200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr6:27656400-27661200	Weak transcription	HMEC	breast
44	chr6:27656400-27661400	Weak transcription	Pancreas	Pancrea

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