Variant report

Variant	rs182575819
Chromosome Location	chr6:49433221-49433222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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.	Distal block	Cell Line	Cell type
1	chr6:49429898..49432613-chr6:49432665..49435098,5	K562	blood:
2	chr6:49431721..49433516-chr6:49458650..49460317,2	K562	blood:
3	chr6:49401244..49402947-chr6:49432509..49434814,2	K562	blood:

Variant related genes	Relation type
MUT	TF binding region
ENSG00000146085	Chromatin interaction
ENSG00000031691	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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49429000-49434200	Active TSS	GM12878-XiMat	blood
2	chr6:49431600-49449200	Weak transcription	Spleen	Spleen
3	chr6:49431800-49433800	Enhancers	Primary B cells from cord blood	blood
4	chr6:49431800-49434000	Enhancers	Primary B cells from peripheral blood	blood
5	chr6:49431800-49449000	Weak transcription	Esophagus	oesophagus
6	chr6:49431800-49456400	Weak transcription	Placenta	Placenta
7	chr6:49431800-49456600	Weak transcription	Left Ventricle	heart
8	chr6:49431800-49461200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr6:49431800-49462000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:49432000-49433600	Enhancers	Thymus	Thymus
11	chr6:49432000-49438800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr6:49432000-49439000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:49432000-49439200	Weak transcription	Fetal Thymus	thymus
14	chr6:49432000-49451400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:49432000-49456200	Weak transcription	Brain Anterior Caudate	brain
16	chr6:49432000-49456400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:49432000-49457600	Weak transcription	HSMM	muscle
18	chr6:49432000-49459600	Weak transcription	Small Intestine	intestine
19	chr6:49432000-49462000	Weak transcription	Brain Angular Gyrus	brain
20	chr6:49432000-49463000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr6:49432200-49433600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:49432200-49438400	Weak transcription	Liver	Liver
23	chr6:49432200-49438600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr6:49432200-49438800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:49432200-49439000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr6:49432200-49439200	Weak transcription	Adipose Nuclei	Adipose
27	chr6:49432200-49439800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr6:49432200-49439800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr6:49432200-49440000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:49432200-49442800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr6:49432200-49449200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:49432200-49449200	Weak transcription	Fetal Intestine Small	intestine
33	chr6:49432200-49449400	Weak transcription	Ovary	ovary
34	chr6:49432200-49449600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:49432200-49452400	Weak transcription	Primary T cells from cord blood	blood
36	chr6:49432200-49456200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:49432200-49456400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr6:49432200-49456400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr6:49432200-49456600	Weak transcription	NH-A	brain
40	chr6:49432200-49457400	Weak transcription	Brain Germinal Matrix	brain
41	chr6:49432200-49461600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr6:49432200-49462400	Weak transcription	Fetal Lung	lung
43	chr6:49432200-49462800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr6:49432200-49463800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr6:49432200-49465000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr6:49432400-49433400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr6:49432400-49438600	Weak transcription	HUVEC	blood vessel
48	chr6:49432400-49438800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:49432400-49438800	Weak transcription	A549	lung
50	chr6:49432400-49438800	Weak transcription	Monocytes-CD14+_RO01746	blood

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