Variant report

Variant	rs12311569
Chromosome Location	chr12:485844-485845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:475322..477819-chr12:485122..486819,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10774152	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774153	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774169	0.83[ASN][1000 genomes]
rs10848814	0.92[ASN][1000 genomes]
rs10848815	0.88[ASN][1000 genomes]
rs12581260	0.85[ASN][1000 genomes]
rs16929744	0.85[ASN][1000 genomes]
rs16929783	0.92[ASN][1000 genomes]
rs2007537	0.88[ASN][1000 genomes]
rs2015554	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2284334	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2300131	0.93[ASN][1000 genomes]
rs3213750	0.84[ASN][1000 genomes]
rs3753156	0.84[ASN][1000 genomes]
rs482514	0.81[ASN][1000 genomes]
rs4980874	0.81[ASN][1000 genomes]
rs4980877	0.82[ASN][1000 genomes]
rs4980881	0.86[ASN][1000 genomes]
rs4980886	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7132763	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7132845	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7134353	0.82[ASN][1000 genomes]
rs7138958	0.88[ASN][1000 genomes]
rs7138981	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs720128	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7298995	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7303180	0.82[ASN][1000 genomes]
rs7312065	0.80[ASN][1000 genomes]
rs7315852	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs764614	0.81[ASN][1000 genomes]
rs7963793	0.88[ASN][1000 genomes]
rs887311	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9669094	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9739950	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949498	chr12:282465-493900	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1051726	chr12:282465-511843	Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv541304	chr12:282465-635505	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1042991	chr12:282465-666255	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1041574	chr12:282465-812000	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv541305	chr12:282465-1016828	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
7	nsv869390	chr12:282465-1045994	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv1049944	chr12:282465-1232077	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv541306	chr12:282465-1232077	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv1050781	chr12:321353-783899	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	nsv1040849	chr12:321619-771493	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv541322	chr12:321619-771493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	nsv1035679	chr12:321619-781558	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv1053519	chr12:321619-828175	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
15	nsv1044433	chr12:321619-1065402	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
16	nsv541323	chr12:321619-1065402	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
17	nsv898563	chr12:332860-493900	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	esv2757484	chr12:335010-543206	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	esv2759875	chr12:335010-990544	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
20	nsv1045638	chr12:349031-893536	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
21	nsv541325	chr12:349031-893536	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
22	nsv1050646	chr12:362398-658665	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
23	nsv541326	chr12:362398-658665	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
24	nsv949469	chr12:380411-1122450	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
25	nsv898565	chr12:428131-564185	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
26	nsv1052201	chr12:429128-515675	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
27	nsv541328	chr12:429128-515675	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
28	nsv442250	chr12:432808-543847	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
29	esv2756520	chr12:433151-543206	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
30	nsv1050226	chr12:441032-743195	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
31	nsv1035222	chr12:449993-515675	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
32	esv2758290	chr12:457433-990544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12311569	JARID1A	Cis_1M	lymphoblastoid	RTeQTL
rs12311569	CCDC77	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:474600-492600	Weak transcription	NHEK	skin
2	chr12:474800-486200	Weak transcription	Small Intestine	intestine
3	chr12:474800-489000	Weak transcription	Stomach Mucosa	stomach
4	chr12:474800-492800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:474800-495200	Weak transcription	Fetal Heart	heart
6	chr12:475200-496800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:475400-486000	Weak transcription	Hela-S3	cervix
8	chr12:476200-487600	Weak transcription	HMEC	breast
9	chr12:477600-486200	Weak transcription	K562	blood
10	chr12:478400-486000	Weak transcription	NHDF-Ad	bronchial
11	chr12:483000-487600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:483000-488600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:483600-493600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:484000-486000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:484000-486400	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr12:484000-487800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:484000-488000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:484000-489000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:484000-493400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr12:484000-494000	Strong transcription	Adipose Nuclei	Adipose
21	chr12:484000-494200	Strong transcription	Thymus	Thymus
22	chr12:484000-494400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:484200-486200	Strong transcription	Fetal Intestine Large	intestine
24	chr12:484200-494000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr12:484200-494400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:484400-486200	ZNF genes & repeats	Fetal Lung	lung
27	chr12:484400-486400	ZNF genes & repeats	Fetal Muscle Leg	muscle
28	chr12:484400-487000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr12:484400-487000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr12:484400-487200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:484400-487200	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:484400-487400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr12:484400-487400	Strong transcription	Brain Angular Gyrus	brain
34	chr12:484400-487600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr12:484400-487600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
36	chr12:484400-487600	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr12:484400-487800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr12:484400-489400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr12:484400-489600	Strong transcription	Brain Cingulate Gyrus	brain
40	chr12:484400-489800	Strong transcription	Colon Smooth Muscle	Colon
41	chr12:484400-492400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:484400-493000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:484400-493400	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr12:484400-493600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:484400-493800	Strong transcription	Primary T cells from cord blood	blood
46	chr12:484400-494000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:484400-494000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:484400-494000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:484400-494000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:484400-494000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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