Variant report

Variant	rs576754814
Chromosome Location	chr6:49432316-49432317
allele	A/G
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:6)
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:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:49429949..49432434-chr6:49603239..49605832,3	K562	blood:
2	chr6:49431483..49432991-chr6:49522409..49524636,2	MCF-7	breast:
3	chr6:20401677..20404627-chr6:49430582..49432502,2	K562	blood:
4	chr6:49431721..49433516-chr6:49458650..49460317,2	K562	blood:
5	chr6:49431208..49433199-chr6:49629940..49632995,3	K562	blood:
6	chr6:49429390..49432411-chr6:49516710..49519961,3	MCF-7	breast:

No data

Variant related genes	Relation type
MUT	TF binding region
ENSG00000197261	Chromatin interaction
ENSG00000112242	Chromatin interaction
ENSG00000112077	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49429000-49434200	Active TSS	GM12878-XiMat	blood
2	chr6:49429800-49432400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:49430000-49432400	Active TSS	K562	blood
4	chr6:49430000-49432600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:49430000-49432600	Active TSS	Muscle Satellite Cultured Cells	--
6	chr6:49430200-49432400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr6:49430200-49432400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr6:49430200-49432800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr6:49431400-49432400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:49431400-49432400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr6:49431400-49432400	Flanking Active TSS	HUVEC	blood vessel
12	chr6:49431600-49432800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr6:49431600-49449200	Weak transcription	Spleen	Spleen
14	chr6:49431800-49432400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr6:49431800-49432400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr6:49431800-49432400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr6:49431800-49432400	Active TSS	HepG2	liver
18	chr6:49431800-49432600	Enhancers	Brain Hippocampus Middle	brain
19	chr6:49431800-49432600	Enhancers	Osteobl	bone
20	chr6:49431800-49432800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr6:49431800-49433200	Flanking Active TSS	Dnd41	blood
22	chr6:49431800-49433800	Enhancers	Primary B cells from cord blood	blood
23	chr6:49431800-49434000	Enhancers	Primary B cells from peripheral blood	blood
24	chr6:49431800-49449000	Weak transcription	Esophagus	oesophagus
25	chr6:49431800-49456400	Weak transcription	Placenta	Placenta
26	chr6:49431800-49456600	Weak transcription	Left Ventricle	heart
27	chr6:49431800-49461200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr6:49431800-49462000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:49432000-49432400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:49432000-49432400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr6:49432000-49432400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:49432000-49432400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr6:49432000-49432400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:49432000-49432400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:49432000-49432400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:49432000-49432400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr6:49432000-49432400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr6:49432000-49432400	Flanking Active TSS	HMEC	breast
39	chr6:49432000-49432400	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr6:49432000-49432600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:49432000-49432600	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr6:49432000-49433600	Enhancers	Thymus	Thymus
43	chr6:49432000-49438800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr6:49432000-49439000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:49432000-49439200	Weak transcription	Fetal Thymus	thymus
46	chr6:49432000-49451400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:49432000-49456200	Weak transcription	Brain Anterior Caudate	brain
48	chr6:49432000-49456400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:49432000-49457600	Weak transcription	HSMM	muscle
50	chr6:49432000-49459600	Weak transcription	Small Intestine	intestine

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