Variant report

Variant	rs12307778
Chromosome Location	chr12:1006369-1006370
allele	A/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	chr12:1005819-1006383	SK-N-SH	brain:	n/a	chr12:1006119-1006130 chr12:1006118-1006126
2	GATA2	chr12:1006334-1006857	SH-SY5Y	brain:	n/a	chr12:1006630-1006639
3	FOSL2	chr12:1005718-1006385	SK-N-SH	brain:	n/a	chr12:1006119-1006130 chr12:1006118-1006126

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1005997..1008361-chr12:1009600..1011843,2	K562	blood:
2	chr12:1004472..1007497-chr12:1008864..1013280,3	K562	blood:

Variant related genes	Relation type
WNK1	TF binding region
ENSG00000060237	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11064594	0.84[AFR][1000 genomes]
rs11571385	1.00[YRI][hapmap]
rs11571477	0.91[AFR][1000 genomes]
rs12303640	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs12304405	0.83[AFR][1000 genomes]
rs12305212	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12308437	0.84[AFR][1000 genomes]
rs12309420	0.92[AFR][1000 genomes]
rs12313976	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs12318154	1.00[YRI][hapmap]
rs13313201	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13313205	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs13313214	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs13313222	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs61736907	0.92[AFR][1000 genomes]
rs72650760	0.92[AFR][1000 genomes]
rs72650770	0.92[AFR][1000 genomes]
rs7312883	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv556890	chr12:662448-1100555	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
9	nsv556892	chr12:673515-1210884	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	nsv898576	chr12:813411-1553450	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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 miRNA target site	56 gene(s)	inside rSNPs	diseases
11	nsv948760	chr12:863833-1542875	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers 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 miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1042333	chr12:907975-1081509	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv1052589	chr12:910460-1421493	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
14	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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	46 gene(s)	inside rSNPs	diseases
15	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
16	nsv468960	chr12:975276-1455106	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	nsv556941	chr12:975276-1455106	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
18	nsv1044329	chr12:985144-1403020	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
19	nsv541340	chr12:985144-1403020	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	nsv1053198	chr12:993822-1034603	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
21	nsv541341	chr12:993822-1034603	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
22	nsv1041675	chr12:993822-1091354	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
23	nsv470256	chr12:998365-1438761	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:962200-1012400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr12:964200-1007600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr12:964400-1042200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:964600-1027200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:965800-1014000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:965800-1028400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:966000-1012200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:966000-1014800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:968600-1006400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:980000-1013200	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:982200-1027000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:986200-1042200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:986400-1014800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:986600-1012000	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr12:986600-1012000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:986600-1012200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:986800-1014600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr12:986800-1028400	Strong transcription	Placenta	Placenta
19	chr12:987000-1007000	Strong transcription	HUVEC	blood vessel
20	chr12:987000-1007200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:987000-1011200	Strong transcription	Liver	Liver
22	chr12:987000-1012600	Strong transcription	Primary T cells from cord blood	blood
23	chr12:987000-1014800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr12:987000-1017600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:987000-1020800	Strong transcription	Adipose Nuclei	Adipose
26	chr12:987000-1022400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:987000-1023600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:987000-1028400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:987000-1028800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:987000-1041200	Strong transcription	Fetal Intestine Large	intestine
31	chr12:987200-1024400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:987200-1024400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr12:987400-1007400	Strong transcription	Stomach Smooth Muscle	stomach
34	chr12:988600-1029400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr12:988800-1023600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr12:989200-1006600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:989200-1042200	Strong transcription	Fetal Muscle Leg	muscle
38	chr12:989400-1012800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:989400-1028400	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:990000-1006400	Strong transcription	HSMM	muscle
41	chr12:995200-1010200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:995200-1014800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:995200-1025800	Weak transcription	Stomach Mucosa	stomach
44	chr12:997200-1011800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:997200-1013200	Strong transcription	Fetal Thymus	thymus
46	chr12:997800-1006400	Weak transcription	Fetal Heart	heart
47	chr12:998400-1009400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:999800-1009600	Weak transcription	Aorta	Aorta
49	chr12:1000800-1013000	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr12:1001400-1024400	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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