Variant report

Variant	rs1653596
Chromosome Location	chr12:121699221-121699222
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	POLR2A	chr12:121699173-121699434	K562	blood:	n/a	n/a
2	CTCF	chr12:121699100-121699250	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121698437..121700965-chr12:121702669..121704736,2	K562	blood:

Variant related genes	Relation type
CAMKK2	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2393845	0.87[AFR][1000 genomes]
rs2436162	0.85[AFR][1000 genomes]
rs2948131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs891780	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
7	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121674600-121704200	Strong transcription	Brain Germinal Matrix	brain
2	chr12:121677400-121717000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:121677400-121717200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:121679000-121713000	Strong transcription	Fetal Intestine Large	intestine
5	chr12:121679200-121709200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:121679200-121714400	Weak transcription	Right Atrium	heart
7	chr12:121679400-121713800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:121679600-121708800	Strong transcription	Fetal Muscle Leg	muscle
9	chr12:121679600-121709200	Strong transcription	Stomach Smooth Muscle	stomach
10	chr12:121679600-121713000	Strong transcription	Liver	Liver
11	chr12:121679600-121732600	Strong transcription	Fetal Intestine Small	intestine
12	chr12:121679800-121703200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:121679800-121709000	Strong transcription	Fetal Muscle Trunk	muscle
14	chr12:121679800-121713000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:121679800-121713600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:121680000-121709800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:121680800-121713800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr12:121681000-121709000	Strong transcription	Adipose Nuclei	Adipose
19	chr12:121681000-121712600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr12:121681200-121706400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:121681200-121708800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:121681200-121708800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:121681200-121708800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:121681200-121713600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:121681200-121717800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:121681400-121708800	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:121684800-121699800	Strong transcription	Ovary	ovary
28	chr12:121684800-121704200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:121684800-121711800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:121685000-121699800	Strong transcription	Primary T cells from cord blood	blood
31	chr12:121685000-121701600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:121685200-121712400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:121686200-121707400	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr12:121688400-121733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:121689000-121713000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:121689200-121717000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:121690200-121700200	Strong transcription	Fetal Brain Female	brain
38	chr12:121690400-121703000	Strong transcription	Brain Angular Gyrus	brain
39	chr12:121690400-121704400	Strong transcription	Placenta	Placenta
40	chr12:121690800-121714200	Strong transcription	Fetal Stomach	stomach
41	chr12:121691000-121706400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:121691200-121716400	Weak transcription	Psoas Muscle	Psoas
43	chr12:121691400-121701200	Weak transcription	Brain Substantia Nigra	brain
44	chr12:121691400-121708600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:121691400-121709200	Strong transcription	Fetal Thymus	thymus
46	chr12:121691600-121706200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:121691600-121708000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr12:121691800-121705600	Weak transcription	NH-A	brain
49	chr12:121692600-121701000	Weak transcription	Fetal Brain Male	brain
50	chr12:121692800-121705200	Weak transcription	Fetal Kidney	kidney

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