Variant report

Variant	rs10778890
Chromosome Location	chr12:82748089-82748090
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr12:82748074-82748115	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:82747963-82748259	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
METTL25	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10778893	1.00[AFR][1000 genomes]
rs10778896	1.00[AFR][1000 genomes]
rs10778899	1.00[AFR][1000 genomes]
rs2717448	1.00[AFR][1000 genomes]
rs4509843	1.00[AFR][1000 genomes]
rs8181779	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559539	chr12:82280797-82896218	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1041954	chr12:82314981-83008609	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv541550	chr12:82314981-83008609	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv832471	chr12:82578953-82755360	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:82740200-82751600	Weak transcription	Gastric	stomach
2	chr12:82740800-82750000	Weak transcription	Fetal Intestine Small	intestine
3	chr12:82740800-82750000	Weak transcription	Psoas Muscle	Psoas
4	chr12:82741000-82749400	Weak transcription	Fetal Brain Male	brain
5	chr12:82741200-82751000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:82741400-82749400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:82741600-82749200	Strong transcription	Adipose Nuclei	Adipose
8	chr12:82741600-82749800	Strong transcription	Primary T cells from cord blood	blood
9	chr12:82742000-82749400	Strong transcription	Liver	Liver
10	chr12:82742000-82750000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:82742200-82749400	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:82742400-82750000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:82742400-82750000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr12:82742600-82748600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:82742600-82749200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:82742600-82750800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:82742600-82751400	Weak transcription	Aorta	Aorta
18	chr12:82742600-82751600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:82742600-82751600	Weak transcription	Spleen	Spleen
20	chr12:82742800-82751200	Weak transcription	Colonic Mucosa	Colon
21	chr12:82742800-82751600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:82743400-82748800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:82743400-82750600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr12:82743400-82750600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr12:82743400-82750600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:82743400-82751000	Weak transcription	Right Ventricle	heart
27	chr12:82743600-82749800	Weak transcription	Brain Angular Gyrus	brain
28	chr12:82743600-82750000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr12:82743600-82750000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr12:82743800-82749000	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:82743800-82750800	Weak transcription	HSMMtube	muscle
32	chr12:82743800-82751600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:82743800-82751600	Weak transcription	Esophagus	oesophagus
34	chr12:82744000-82748800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr12:82744000-82749200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr12:82744000-82749400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:82744000-82749400	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:82744000-82749600	Weak transcription	HepG2	liver
39	chr12:82744000-82750200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:82744000-82750200	Weak transcription	Fetal Heart	heart
41	chr12:82744000-82750600	Strong transcription	Fetal Thymus	thymus
42	chr12:82744200-82751200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:82744400-82748200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:82744400-82750800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:82744600-82748200	Strong transcription	Brain Anterior Caudate	brain
46	chr12:82744600-82750000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:82744800-82750000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:82745000-82748200	Strong transcription	GM12878-XiMat	blood
49	chr12:82745000-82748400	Strong transcription	Fetal Kidney	kidney
50	chr12:82745000-82750000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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