Variant report

Variant	rs7954916
Chromosome Location	chr12:8218392-8218393
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:8217345..8219129-chr12:8233768..8236260,3	K562	blood:

Variant related genes	Relation type
ENSG00000089818	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11567780	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1966409	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35628864	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs35949673	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73063361	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7842	0.91[CEU][hapmap];0.86[EUR][1000 genomes]

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	chr12:8205600-8218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:8205600-8218800	Weak transcription	Hela-S3	cervix
4	chr12:8206000-8221600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:8206200-8218800	Weak transcription	NH-A	brain
6	chr12:8206800-8218400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:8207600-8218800	Weak transcription	NHDF-Ad	bronchial
8	chr12:8207800-8218400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:8207800-8221400	Weak transcription	Brain Substantia Nigra	brain
10	chr12:8208000-8218400	Weak transcription	GM12878-XiMat	blood
11	chr12:8208000-8218800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:8208000-8218800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:8208000-8218800	Weak transcription	Thymus	Thymus
14	chr12:8208200-8218400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:8208200-8218800	Weak transcription	Fetal Thymus	thymus
16	chr12:8208400-8218400	Weak transcription	Liver	Liver
17	chr12:8208400-8218400	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:8208400-8218600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:8208400-8218800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr12:8208400-8218800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:8208400-8218800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:8208400-8218800	Weak transcription	HSMMtube	muscle
23	chr12:8208600-8219600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:8208600-8233800	Weak transcription	Aorta	Aorta
25	chr12:8210600-8218600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:8210600-8218800	Weak transcription	Osteobl	bone
27	chr12:8211000-8218600	Weak transcription	NHEK	skin
28	chr12:8211200-8218400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:8211200-8218800	Weak transcription	NHLF	lung
30	chr12:8212800-8218600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:8215800-8219800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr12:8216000-8218400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:8216400-8218400	Enhancers	Primary T cells fromperipheralblood	blood
34	chr12:8216400-8218400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr12:8216400-8218400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:8216400-8218600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:8216600-8220600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:8216800-8218600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr12:8216800-8219000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr12:8216800-8219400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr12:8217000-8218800	Active TSS	Placenta	Placenta
42	chr12:8217200-8218400	Active TSS	Right Atrium	heart
43	chr12:8217200-8219000	Active TSS	Adipose Nuclei	Adipose
44	chr12:8217200-8219600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:8217400-8218400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr12:8217400-8218600	Enhancers	Primary T cells from cord blood	blood
47	chr12:8217400-8218800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:8217400-8218800	Active TSS	Fetal Muscle Leg	muscle
49	chr12:8217400-8219000	Active TSS	Duodenum Mucosa	Duodenum
50	chr12:8217400-8219400	Active TSS	Rectal Mucosa Donor 29	rectum

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