Variant report

Variant	rs557666964
Chromosome Location	chr6:49432483-49432484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:49432000-49433254	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:49431483..49432991-chr6:49522409..49524636,2	MCF-7	breast:
2	chr6:20401677..20404627-chr6:49430582..49432502,2	K562	blood:
3	chr6:49431721..49433516-chr6:49458650..49460317,2	K562	blood:
4	chr6:49431208..49433199-chr6:49629940..49632995,3	K562	blood:
5	chr1:173836868..173837651-chr6:49432317..49433018,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
MUT	TF binding region
ENSG00000234741	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000112242	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv603081	chr6:49421241-49446233	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv603082	chr6:49421241-49446509	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv603083	chr6:49429706-49446233	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv603084	chr6:49429706-49446509	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv603085	chr6:49429706-49450341	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv441996	chr6:49431565-49447295	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv603086	chr6:49431569-49440363	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv603087	chr6:49431569-49441062	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv603088	chr6:49431569-49446504	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv603089	chr6:49431569-49446509	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	esv2763934	chr6:49431569-49447295	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
14	nsv603090	chr6:49431569-49447295	Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	nsv1019611	chr6:49431569-49470663	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49429000-49434200	Active TSS	GM12878-XiMat	blood
2	chr6:49430000-49432600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr6:49430000-49432600	Active TSS	Muscle Satellite Cultured Cells	--
4	chr6:49430200-49432800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:49431600-49432800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr6:49431600-49449200	Weak transcription	Spleen	Spleen
7	chr6:49431800-49432600	Enhancers	Brain Hippocampus Middle	brain
8	chr6:49431800-49432600	Enhancers	Osteobl	bone
9	chr6:49431800-49432800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr6:49431800-49433200	Flanking Active TSS	Dnd41	blood
11	chr6:49431800-49433800	Enhancers	Primary B cells from cord blood	blood
12	chr6:49431800-49434000	Enhancers	Primary B cells from peripheral blood	blood
13	chr6:49431800-49449000	Weak transcription	Esophagus	oesophagus
14	chr6:49431800-49456400	Weak transcription	Placenta	Placenta
15	chr6:49431800-49456600	Weak transcription	Left Ventricle	heart
16	chr6:49431800-49461200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr6:49431800-49462000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:49432000-49432600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:49432000-49432600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:49432000-49433600	Enhancers	Thymus	Thymus
21	chr6:49432000-49438800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr6:49432000-49439000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:49432000-49439200	Weak transcription	Fetal Thymus	thymus
24	chr6:49432000-49451400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:49432000-49456200	Weak transcription	Brain Anterior Caudate	brain
26	chr6:49432000-49456400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:49432000-49457600	Weak transcription	HSMM	muscle
28	chr6:49432000-49459600	Weak transcription	Small Intestine	intestine
29	chr6:49432000-49462000	Weak transcription	Brain Angular Gyrus	brain
30	chr6:49432000-49463000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr6:49432200-49432600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr6:49432200-49432600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:49432200-49432600	Enhancers	Primary hematopoietic stem cells	blood
34	chr6:49432200-49432600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:49432200-49432600	Flanking Active TSS	Hela-S3	cervix
36	chr6:49432200-49432600	Enhancers	NHEK	skin
37	chr6:49432200-49433000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr6:49432200-49433200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:49432200-49433200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:49432200-49433200	Enhancers	NHDF-Ad	bronchial
41	chr6:49432200-49433600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:49432200-49438400	Weak transcription	Liver	Liver
43	chr6:49432200-49438600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:49432200-49438800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr6:49432200-49439000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr6:49432200-49439200	Weak transcription	Adipose Nuclei	Adipose
47	chr6:49432200-49439800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr6:49432200-49439800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr6:49432200-49440000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:49432200-49442800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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