Variant report

Variant	rs12699405
Chromosome Location	chr7:12611179-12611180
allele	C/T
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	SUZ12	chr7:12609858-12611660	NT2-D1	testis:	n/a	n/a

Variant related genes	Relation type
ENSG00000225606	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10233553	0.87[EUR][1000 genomes]
rs1118999	0.87[EUR][1000 genomes]
rs6966584	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6972630	0.87[EUR][1000 genomes]
rs7805093	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs849779	1.00[ASW][hapmap];1.00[GIH][hapmap]
rs849786	1.00[ASW][hapmap];1.00[GIH][hapmap]

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	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv1021371	chr7:12530491-12710429	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1017577	chr7:12530491-12722947	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1030764	chr7:12532287-12710429	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv528031	chr7:12536336-12618764	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1025397	chr7:12543161-12612059	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1025006	chr7:12543161-12618924	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1027831	chr7:12543161-12619740	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv470066	chr7:12543794-12618764	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1033478	chr7:12547121-12618924	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv464379	chr7:12572742-12618764	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv606231	chr7:12572742-12618764	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1018053	chr7:12580554-12632996	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1020242	chr7:12605593-12641202	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12609400-12611600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:12609600-12611200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr7:12609600-12611200	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr7:12609600-12611200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
5	chr7:12609600-12612000	Active TSS	Brain Anterior Caudate	brain
6	chr7:12609800-12611200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:12609800-12611200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr7:12609800-12611200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr7:12609800-12611200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr7:12609800-12611200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
11	chr7:12609800-12611200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
12	chr7:12609800-12611600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr7:12610000-12611200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:12610000-12611200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr7:12610200-12611200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr7:12610200-12611200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:12610200-12611200	Bivalent/Poised TSS	Small Intestine	intestine
18	chr7:12610200-12611600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr7:12610200-12612000	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr7:12610200-12612600	Bivalent/Poised TSS	Fetal Kidney	kidney
21	chr7:12610400-12611200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:12610400-12611200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
23	chr7:12610400-12611200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
24	chr7:12610400-12613400	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr7:12610600-12611200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr7:12610800-12611200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr7:12610800-12611200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr7:12610800-12611200	Bivalent/Poised TSS	Osteobl	bone
29	chr7:12610800-12611400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:12610800-12611600	Active TSS	Lung	lung
31	chr7:12610800-12611800	Active TSS	Colonic Mucosa	Colon
32	chr7:12611000-12611200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:12611000-12611200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:12611000-12611200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
35	chr7:12611000-12611200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:12611000-12611200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:12611000-12611200	Active TSS	Brain Hippocampus Middle	brain
38	chr7:12611000-12611200	Active TSS	Esophagus	oesophagus
39	chr7:12611000-12611200	Bivalent Enhancer	Fetal Lung	lung
40	chr7:12611000-12611200	Active TSS	Placenta	Placenta
41	chr7:12611000-12611200	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr7:12611000-12611200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
43	chr7:12611000-12611400	Bivalent/Poised TSS	Fetal Stomach	stomach
44	chr7:12611000-12611600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:12611000-12611600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:12611000-12611600	Active TSS	Gastric	stomach
47	chr7:12611000-12611800	Active TSS	Stomach Mucosa	stomach
48	chr7:12611000-12612800	Weak transcription	K562	blood
49	chr7:12611000-12613200	Active TSS	Duodenum Mucosa	Duodenum

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