Variant report

Variant	rs2062257
Chromosome Location	chr12:31836186-31836187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31834148..31836795-chr12:31838829..31840863,2	K562	blood:
2	chr12:31834709..31836887-chr12:33736084..33739059,2	K562	blood:

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

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

rs_ID	r²[population]
rs1021165	1.00[AMR][1000 genomes]
rs6488002	1.00[AFR][1000 genomes]
rs7299633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7954998	0.80[AFR][1000 genomes]
rs7957209	0.86[AFR][1000 genomes]
rs7974038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription 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	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription 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	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31813200-31837000	Weak transcription	Fetal Brain Male	brain
2	chr12:31813400-31836200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:31815200-31840600	Weak transcription	Pancreas	Pancrea
4	chr12:31817400-31850400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:31822400-31836600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:31822400-31840600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:31822600-31836400	Weak transcription	Brain Anterior Caudate	brain
8	chr12:31822600-31862000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:31822600-31874200	Weak transcription	Right Ventricle	heart
10	chr12:31823800-31836200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:31826800-31836200	Weak transcription	Brain Substantia Nigra	brain
12	chr12:31827000-31871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:31827400-31855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:31835000-31837200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
15	chr12:31835000-31839200	ZNF genes & repeats	Fetal Thymus	thymus
16	chr12:31835200-31836200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
17	chr12:31835200-31837000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
18	chr12:31835200-31837200	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr12:31835200-31837200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
20	chr12:31835200-31837600	ZNF genes & repeats	Liver	Liver
21	chr12:31835200-31838000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
22	chr12:31835200-31838200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
23	chr12:31835200-31838600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:31835200-31838600	ZNF genes & repeats	Fetal Stomach	stomach
25	chr12:31835400-31836600	ZNF genes & repeats	Brain Germinal Matrix	brain
26	chr12:31835400-31836800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr12:31835400-31837200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr12:31835400-31839000	ZNF genes & repeats	Primary B cells from cord blood	blood
29	chr12:31835400-31839200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:31835400-31841800	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr12:31835600-31836200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:31835600-31836200	ZNF genes & repeats	Brain Angular Gyrus	brain
33	chr12:31835600-31836400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:31835600-31837000	ZNF genes & repeats	Fetal Muscle Leg	muscle
35	chr12:31835600-31837200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:31835600-31837200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:31835600-31837200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
38	chr12:31835600-31837200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr12:31835600-31837200	ZNF genes & repeats	Fetal Brain Female	brain
40	chr12:31835600-31837200	ZNF genes & repeats	Fetal Lung	lung
41	chr12:31835600-31837200	ZNF genes & repeats	Dnd41	blood
42	chr12:31835600-31837400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
43	chr12:31835600-31837600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:31835600-31837800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
45	chr12:31835600-31841600	Strong transcription	Thymus	Thymus
46	chr12:31835600-31860200	Weak transcription	Fetal Kidney	kidney
47	chr12:31835800-31836200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
48	chr12:31835800-31854800	Weak transcription	K562	blood
49	chr12:31836000-31836800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
50	chr12:31836000-31837200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood

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