Variant report

Variant	rs536828995
Chromosome Location	chr8:1949270-1949271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:8339151..8339685-chr8:1949081..1949841,2	Hela-S3	cervix:
2	chr8:1906659..1908488-chr8:1948019..1949630,2	MCF-7	breast:
3	chr8:1945649..1948332-chr8:1948376..1949994,2	MCF-7	breast:
4	chr8:1920209..1923568-chr8:1948553..1950993,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270988	Chromatin interaction
ENSG00000176595	Chromatin interaction
ENSG00000253764	Chromatin interaction
ENSG00000166579	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv609531	chr8:1717036-1965389	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv889724	chr8:1756800-1965389	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv889731	chr8:1868842-1965389	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv889736	chr8:1892069-1965389	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv889738	chr8:1897249-1965389	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv824473	chr8:1914305-1965389	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv824474	chr8:1915145-1960212	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv824477	chr8:1915145-1965389	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv889740	chr8:1916347-1954464	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv889741	chr8:1916347-1955283	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv889742	chr8:1918352-1955142	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1015930	chr8:1919596-1952936	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	esv1839364	chr8:1920461-1951163	Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv1019578	chr8:1926059-1965389	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	esv3339413	chr8:1947645-1953143	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	esv1820032	chr8:1947938-1954464	Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	esv1817590	chr8:1947938-1958001	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	esv3443916	chr8:1948695-1952143	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
24	nsv609556	chr8:1948888-1951163	Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
25	esv3355465	chr8:1948970-1951518	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
26	esv3345015	chr8:1949070-1951818	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
27	esv1834126	chr8:1949126-1951300	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
28	esv1834942	chr8:1949126-1953014	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1948400-1949400	Flanking Active TSS	Duodenum Mucosa	Duodenum
2	chr8:1948400-1949400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:1948400-1949400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr8:1948400-1951600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:1948600-1949400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:1948600-1949400	Enhancers	Fetal Heart	heart
7	chr8:1948600-1949400	Flanking Active TSS	Fetal Muscle Leg	muscle
8	chr8:1948600-1949400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr8:1948600-1949400	Flanking Active TSS	HSMM	muscle
10	chr8:1948600-1949600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr8:1948800-1949400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
12	chr8:1948800-1949400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr8:1948800-1949400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr8:1948800-1949400	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr8:1948800-1949400	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr8:1948800-1949400	Flanking Active TSS	Brain Substantia Nigra	brain
17	chr8:1948800-1949400	Flanking Active TSS	Colonic Mucosa	Colon
18	chr8:1948800-1949400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr8:1948800-1949400	Enhancers	Fetal Brain Male	brain
20	chr8:1948800-1949400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
21	chr8:1948800-1949600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr8:1948800-1949600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:1948800-1949600	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr8:1948800-1949600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr8:1948800-1949600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
26	chr8:1948800-1949800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr8:1948800-1949800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
28	chr8:1948800-1950200	Bivalent/Poised TSS	NHEK	skin
29	chr8:1948800-1950400	Active TSS	Osteobl	bone
30	chr8:1948800-1950600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr8:1948800-1950600	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr8:1949000-1949400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:1949000-1949400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:1949000-1949400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
35	chr8:1949000-1949400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:1949000-1949400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
37	chr8:1949000-1949400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr8:1949000-1949400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr8:1949000-1949400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:1949000-1949400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr8:1949000-1949400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr8:1949000-1949400	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr8:1949000-1949400	Flanking Active TSS	Fetal Brain Female	brain
44	chr8:1949000-1949400	Flanking Active TSS	Fetal Muscle Trunk	muscle
45	chr8:1949000-1949400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
46	chr8:1949000-1949400	Flanking Active TSS	Gastric	stomach
47	chr8:1949000-1949400	Flanking Active TSS	Pancreas	Pancrea
48	chr8:1949000-1949400	Flanking Active TSS	Psoas Muscle	Psoas
49	chr8:1949000-1949400	Flanking Bivalent TSS/Enh	Thymus	Thymus
50	chr8:1949000-1949400	Flanking Active TSS	Dnd41	blood

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