Variant report

Variant	rs550725214
Chromosome Location	chr6:160955268-160955269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:160876699..160877379-chr6:160954968..160955609,2	K562	blood:
2	chr6:160954972..160955719-chr6:161088699..161089595,2	MCF-7	breast:
3	chr6:160940571..160941215-chr6:160954967..160955505,2	K562	blood:
4	chr6:160559138..160559777-chr6:160954950..160955755,2	K562	blood:
5	chr6:160940613..160941580-chr6:160954987..160955524,2	MCF-7	breast:
6	chr6:160284403..160284908-chr6:160954965..160955519,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv35098	chr6:160422589-161070870	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv2757197	chr6:160432331-161070870	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv818463	chr6:160435569-161025547	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1030171	chr6:160648469-161091864	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv886809	chr6:160670494-160979275	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv886811	chr6:160700769-161070990	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv886812	chr6:160706661-161024848	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	esv6519	chr6:160877633-160956593	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv3378121	chr6:160877757-160956624	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv3475083	chr6:160877837-160956581	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv3475084	chr6:160877837-160956581	Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv3351253	chr6:160896879-160975729	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv525990	chr6:160903622-160970963	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv1801254	chr6:160932981-161079798	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv1846296	chr6:160932981-161079798	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv427770	chr6:160932981-161079798	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	esv1793293	chr6:160937316-161079798	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	esv1806032	chr6:160937316-161079798	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	esv1818315	chr6:160937316-161079798	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	esv1826647	chr6:160937316-161079798	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	esv1843091	chr6:160937316-161079798	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv428155	chr6:160937316-161079798	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	esv3371490	chr6:160953962-160958660	Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160954400-160981000	Strong transcription	Liver	Liver
2	chr6:160954800-160955400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:160954800-160955400	Active TSS	A549	lung
4	chr6:160954800-160955600	Enhancers	Dnd41	blood
5	chr6:160955000-160955400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr6:160955000-160955400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:160955000-160955400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:160955000-160955400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:160955000-160955400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr6:160955000-160955400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:160955000-160955400	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr6:160955000-160955400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr6:160955000-160955400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:160955000-160955400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:160955000-160955400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr6:160955000-160955400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr6:160955000-160955400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:160955000-160955400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:160955000-160955400	Active TSS	Muscle Satellite Cultured Cells	--
20	chr6:160955000-160955400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:160955000-160955400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:160955000-160955400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:160955000-160955400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:160955000-160955400	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr6:160955000-160955400	Flanking Active TSS	Brain Angular Gyrus	brain
26	chr6:160955000-160955400	Active TSS	Brain Anterior Caudate	brain
27	chr6:160955000-160955400	Active TSS	Brain Cingulate Gyrus	brain
28	chr6:160955000-160955400	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr6:160955000-160955400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:160955000-160955400	Active TSS	Brain Substantia Nigra	brain
31	chr6:160955000-160955400	Active TSS	Colonic Mucosa	Colon
32	chr6:160955000-160955400	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr6:160955000-160955400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr6:160955000-160955400	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr6:160955000-160955400	Active TSS	Fetal Lung	lung
36	chr6:160955000-160955400	Flanking Active TSS	Fetal Muscle Trunk	muscle
37	chr6:160955000-160955400	Enhancers	Placenta	Placenta
38	chr6:160955000-160955400	Enhancers	Fetal Stomach	stomach
39	chr6:160955000-160955400	Enhancers	Ovary	ovary
40	chr6:160955000-160955400	Enhancers	Pancreas	Pancrea
41	chr6:160955000-160955400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr6:160955000-160955400	Active TSS	Right Atrium	heart
43	chr6:160955000-160955400	Enhancers	Stomach Mucosa	stomach
44	chr6:160955000-160955400	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr6:160955000-160955400	Enhancers	HepG2	liver
46	chr6:160955000-160955400	Active TSS	NHDF-Ad	bronchial
47	chr6:160955000-160955400	Active TSS	NHLF	lung
48	chr6:160955000-160955600	Enhancers	Primary B cells from peripheral blood	blood
49	chr6:160955000-160955600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:160955000-160955600	Enhancers	Fetal Muscle Leg	muscle

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