Variant report

Variant	rs539917552
Chromosome Location	chr12:8214979-8214980
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:8211948..8215026-chr12:8217388..8219244,3	K562	blood:
2	chr12:8194960..8197695-chr12:8212666..8215370,2	K562	blood:

Variant related genes	Relation type
ENSG00000171860	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription 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 target site	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
7	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv1040972	chr12:8003413-8266291	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv541388	chr12:8003413-8266291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
11	nsv1045521	chr12:8123225-8242846	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
12	nsv1040958	chr12:8177050-8309724	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
13	nsv541396	chr12:8177050-8309724	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	esv1803169	chr12:8214261-8220684	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv1800244	chr12:8214261-8224464	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv1802044	chr12:8214261-8224464	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8203000-8218800	Weak transcription	HMEC	breast
2	chr12:8203400-8217400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:8205600-8218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:8205600-8218800	Weak transcription	Hela-S3	cervix
5	chr12:8206000-8221600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:8206200-8217200	Weak transcription	K562	blood
7	chr12:8206200-8218800	Weak transcription	NH-A	brain
8	chr12:8206600-8216800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:8206800-8218400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:8207600-8215400	Weak transcription	Colonic Mucosa	Colon
11	chr12:8207600-8217200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:8207600-8217800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:8207600-8218800	Weak transcription	NHDF-Ad	bronchial
14	chr12:8207800-8217000	Weak transcription	Placenta	Placenta
15	chr12:8207800-8218000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:8207800-8218400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:8207800-8221400	Weak transcription	Brain Substantia Nigra	brain
18	chr12:8208000-8217400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:8208000-8217400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr12:8208000-8218400	Weak transcription	GM12878-XiMat	blood
21	chr12:8208000-8218800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:8208000-8218800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:8208000-8218800	Weak transcription	Thymus	Thymus
24	chr12:8208200-8216400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:8208200-8218400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:8208200-8218800	Weak transcription	Fetal Thymus	thymus
27	chr12:8208400-8216400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:8208400-8216600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:8208400-8216800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:8208400-8217400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:8208400-8217400	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:8208400-8217400	Weak transcription	Left Ventricle	heart
33	chr12:8208400-8217600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:8208400-8218200	Weak transcription	Dnd41	blood
35	chr12:8208400-8218400	Weak transcription	Liver	Liver
36	chr12:8208400-8218400	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:8208400-8218600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:8208400-8218800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr12:8208400-8218800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:8208400-8218800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:8208400-8218800	Weak transcription	HSMMtube	muscle
42	chr12:8208600-8217400	Weak transcription	Primary T cells from cord blood	blood
43	chr12:8208600-8219600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:8208600-8233800	Weak transcription	Aorta	Aorta
45	chr12:8210600-8218600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:8210600-8218800	Weak transcription	Osteobl	bone
47	chr12:8211000-8218600	Weak transcription	NHEK	skin
48	chr12:8211200-8217400	Weak transcription	Primary B cells from cord blood	blood
49	chr12:8211200-8218400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:8211200-8218800	Weak transcription	NHLF	lung

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