Variant report

Variant	rs547934848
Chromosome Location	chr8:6949409-6949410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1027883	chr8:6570354-7250368	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv949532	chr8:6579563-6999220	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1015244	chr8:6638899-6988914	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2752262	chr8:6638899-7011075	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1025587	chr8:6651912-7171085	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv429845	chr8:6729645-7690320	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
8	nsv1016218	chr8:6808907-7226424	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	esv1792160	chr8:6824069-7240691	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	esv1803408	chr8:6827068-7104728	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv1028980	chr8:6833356-7011075	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1029843	chr8:6833356-7832042	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	79 gene(s)	inside rSNPs	diseases
13	esv1807935	chr8:6835213-7789243	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
14	nsv1033361	chr8:6859650-7039841	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv1017134	chr8:6859650-7226424	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
16	nsv1025901	chr8:6876130-6999220	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv1018704	chr8:6878841-7798839	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
18	nsv470180	chr8:6879803-7007415	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv1024678	chr8:6879803-7744052	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
20	nsv1034383	chr8:6880050-7011075	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
21	nsv491766	chr8:6880304-7752586	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
22	nsv482490	chr8:6881757-7035397	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
23	nsv1020749	chr8:6882393-6999220	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	nsv1018227	chr8:6882393-7832042	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
25	nsv1035079	chr8:6889635-6999220	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
26	nsv1019675	chr8:6889635-7011075	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
27	nsv831222	chr8:6913723-7128336	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
28	nsv1021531	chr8:6921124-7226424	Weak transcription Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
29	nsv1015272	chr8:6925100-7226424	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
30	nsv1023625	chr8:6925100-7392945	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
31	nsv890074	chr8:6925869-7290194	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
32	nsv971624	chr8:6933734-7158645	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
33	nsv1018758	chr8:6933746-7226424	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
34	nsv1020483	chr8:6933746-7759581	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
35	nsv1024505	chr8:6935820-7226424	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
36	esv3392115	chr8:6936974-7454957	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
37	nsv1016219	chr8:6937887-7798839	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
38	nsv1026225	chr8:6938021-7011075	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
39	nsv1019908	chr8:6940602-7029978	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
40	nsv1022167	chr8:6940602-7783150	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
41	nsv433397	chr8:6940656-7053947	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
42	nsv971704	chr8:6946932-6954417	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
43	nsv508495	chr8:6947163-7174612	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
44	nsv469660	chr8:6949148-7106348	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
45	nsv482260	chr8:6949148-7106348	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6947600-6949600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:6949000-6949600	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:6949200-6949600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:6949200-6949600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr8:6949200-6949600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:6949200-6949600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:6949200-6949600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr8:6949200-6949600	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr8:6949200-6949600	Bivalent Enhancer	Fetal Stomach	stomach
10	chr8:6949200-6949600	Enhancers	Pancreas	Pancrea
11	chr8:6949200-6950200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr8:6949200-6950200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
13	chr8:6949200-6950200	Enhancers	Fetal Brain Male	brain
14	chr8:6949200-6950200	Active TSS	Fetal Brain Female	brain
15	chr8:6949200-6950200	Enhancers	Spleen	Spleen
16	chr8:6949400-6949600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:6949400-6949600	Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr8:6949400-6949600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr8:6949400-6949600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr8:6949400-6949600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:6949400-6949600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:6949400-6949600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:6949400-6949600	Enhancers	Esophagus	oesophagus
24	chr8:6949400-6949600	Enhancers	NH-A	brain
25	chr8:6949400-6949800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr8:6949400-6949800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:6949400-6949800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:6949400-6949800	Enhancers	Primary B cells from cord blood	blood
29	chr8:6949400-6949800	Active TSS	Primary T cells from cord blood	blood
30	chr8:6949400-6949800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr8:6949400-6949800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:6949400-6949800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:6949400-6949800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:6949400-6949800	Flanking Active TSS	Right Ventricle	heart
35	chr8:6949400-6949800	Active TSS	HSMM	muscle
36	chr8:6949400-6950000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr8:6949400-6950000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:6949400-6950000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:6949400-6950000	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr8:6949400-6950000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
41	chr8:6949400-6950000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
42	chr8:6949400-6950000	Active TSS	Thymus	Thymus
43	chr8:6949400-6950000	Active TSS	Dnd41	blood
44	chr8:6949400-6950200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:6949400-6950200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:6949400-6950200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr8:6949400-6950200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:6949400-6950200	Active TSS	Muscle Satellite Cultured Cells	--
49	chr8:6949400-6950400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
50	chr8:6949400-6950400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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