Variant report

Variant	rs2231754
Chromosome Location	chr12:8248367-8248368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2231750	0.86[CEU][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35574503	1.00[ASN][1000 genomes]
rs7312476	0.80[CEU][hapmap]
rs7315204	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
12	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
13	nsv430460	chr12:8225225-8388656	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1040302	chr12:8245364-8695612	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv541397	chr12:8245364-8695612	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8235800-8250400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:8235800-8272200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:8238400-8249400	Strong transcription	Fetal Stomach	stomach
4	chr12:8240800-8250800	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr12:8240800-8251200	Strong transcription	Fetal Muscle Leg	muscle
6	chr12:8241200-8250800	Weak transcription	Stomach Mucosa	stomach
7	chr12:8241200-8251000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:8241200-8251400	Strong transcription	Fetal Brain Female	brain
9	chr12:8241200-8251600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:8241400-8251000	Strong transcription	Fetal Muscle Trunk	muscle
11	chr12:8241600-8251000	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr12:8241600-8251000	Strong transcription	Dnd41	blood
13	chr12:8242000-8250000	Strong transcription	Colonic Mucosa	Colon
14	chr12:8242000-8250400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr12:8242000-8250400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr12:8242000-8251000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:8242000-8251000	Strong transcription	Fetal Intestine Large	intestine
18	chr12:8242000-8251400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:8242200-8250200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:8242200-8250800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:8242200-8250800	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:8242200-8251000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:8242200-8251000	Strong transcription	Brain Anterior Caudate	brain
24	chr12:8242200-8251000	Strong transcription	HepG2	liver
25	chr12:8242200-8251000	Strong transcription	Osteobl	bone
26	chr12:8242200-8251600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr12:8242200-8251600	Strong transcription	Brain Hippocampus Middle	brain
28	chr12:8242200-8251600	Strong transcription	Fetal Thymus	thymus
29	chr12:8242200-8252000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:8242400-8249000	Strong transcription	NHLF	lung
31	chr12:8242400-8249200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:8242400-8249400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:8242400-8250000	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr12:8242400-8250000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:8242400-8250000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:8242400-8250000	Strong transcription	Lung	lung
37	chr12:8242400-8250000	Strong transcription	Ovary	ovary
38	chr12:8242400-8250000	Strong transcription	Spleen	Spleen
39	chr12:8242400-8250200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:8242400-8250200	Strong transcription	Left Ventricle	heart
41	chr12:8242400-8250600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:8242400-8250800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:8242400-8251000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:8242400-8251000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:8242400-8251000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr12:8242400-8251000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:8242400-8251000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:8242400-8251000	Strong transcription	Adipose Nuclei	Adipose
49	chr12:8242400-8251000	Strong transcription	Brain Angular Gyrus	brain
50	chr12:8242400-8251200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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