Variant report

Variant	rs16823368
Chromosome Location	chr2:144713244-144713245
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	PBX3	chr2:144712875-144713399	SK-N-SH	brain:	n/a	n/a
2	TEAD4	chr2:144712778-144713509	SK-N-SH	brain:	n/a	chr2:144712996-144713005
3	FOS	chr2:144713038-144713274	MCF10A-Er-Src	breast:	n/a	n/a
4	JUND	chr2:144712788-144713554	SK-N-SH	brain:	n/a	chr2:144713499-144713508
5	NFIC	chr2:144712765-144713763	SK-N-SH	brain:	n/a	chr2:144713238-144713255 chr2:144713227-144713255
6	NR3C1	chr2:144713013-144713303	ECC-1	luminal epithelium:	n/a	n/a
7	NR3C1	chr2:144713011-144713324	A549	lung:	n/a	n/a
8	GATA3	chr2:144712357-144713580	SK-N-SH	brain:	n/a	chr2:144713358-144713367 chr2:144712650-144712657 chr2:144713358-144713368
9	POLR2A	chr2:144712929-144713391	SK-N-SH	brain:	n/a	n/a
10	NR3C1	chr2:144712983-144713316	A549	lung:	n/a	n/a
11	TCF12	chr2:144712532-144713553	SK-N-SH	brain:	n/a	chr2:144713466-144713473
12	GATA3	chr2:144712288-144713708	SK-N-SH	brain:	n/a	chr2:144713358-144713367 chr2:144712650-144712657 chr2:144713358-144713368
13	NR3C1	chr2:144713025-144713268	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr2:144713207-144713332	ProgFib	skin:	n/a	n/a
15	TEAD4	chr2:144712341-144713598	SK-N-SH	brain:	n/a	chr2:144712996-144713005
16	NFIC	chr2:144712951-144713531	SK-N-SH	brain:	n/a	chr2:144713238-144713255 chr2:144713227-144713255
17	PBX3	chr2:144712718-144713534	SK-N-SH	brain:	n/a	n/a
18	FOS	chr2:144712953-144713274	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr2:144713055-144713255	MCF10A-Er-Src	breast:	n/a	n/a
20	EP300	chr2:144712626-144713540	SK-N-SH	brain:	n/a	chr2:144713485-144713499
21	TCF12	chr2:144712393-144713755	SK-N-SH	brain:	n/a	chr2:144713466-144713473
22	MYC	chr2:144713095-144713302	MCF10A-Er-Src	breast:	n/a	n/a
23	EP300	chr2:144711581-144713862	SK-N-SH	brain:	n/a	chr2:144713485-144713499
24	FOSL2	chr2:144712867-144713466	SK-N-SH	brain:	n/a	n/a
25	CEBPB	chr2:144712979-144713653	IMR90	lung:	n/a	chr2:144713486-144713497 chr2:144713484-144713495

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:144711849..144715713-chr2:144717627..144720875,3	K562	blood:

Variant related genes	Relation type
GTDC1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16823386	1.00[AMR][1000 genomes]
rs16823388	1.00[AMR][1000 genomes]
rs16823403	1.00[AMR][1000 genomes]
rs16855308	1.00[AMR][1000 genomes]
rs61170223	1.00[AMR][1000 genomes]
rs61180561	1.00[AMR][1000 genomes]
rs6719298	1.00[AMR][1000 genomes]
rs6741695	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6744764	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	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144695400-144714200	Weak transcription	Gastric	stomach
2	chr2:144696600-144717800	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:144699600-144730400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:144700800-144719600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:144704400-144713400	Weak transcription	Esophagus	oesophagus
6	chr2:144704600-144713400	Weak transcription	Lung	lung
7	chr2:144704600-144728800	Weak transcription	Spleen	Spleen
8	chr2:144704800-144719200	Weak transcription	Primary B cells from cord blood	blood
9	chr2:144704800-144730800	Weak transcription	Left Ventricle	heart
10	chr2:144705000-144717800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:144709200-144714600	Weak transcription	Fetal Kidney	kidney
12	chr2:144710800-144713600	Enhancers	Osteobl	bone
13	chr2:144711000-144713400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:144711000-144713600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:144711000-144713800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:144711200-144713800	Enhancers	HSMM	muscle
17	chr2:144711400-144713600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:144711400-144713800	Enhancers	NHLF	lung
19	chr2:144711400-144717600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:144711800-144713400	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:144711800-144714800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:144712000-144713800	Enhancers	NH-A	brain
23	chr2:144712000-144715200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:144712200-144713600	Enhancers	HSMMtube	muscle
25	chr2:144712400-144713800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:144712600-144713600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:144712600-144713600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:144712600-144713600	Enhancers	Fetal Heart	heart
29	chr2:144712600-144713600	Enhancers	Fetal Stomach	stomach
30	chr2:144712800-144713600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:144712800-144713600	Enhancers	NHEK	skin
32	chr2:144713000-144713600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:144713000-144713600	Enhancers	Fetal Brain Female	brain
34	chr2:144713000-144713600	Enhancers	Rectal Smooth Muscle	rectum
35	chr2:144713000-144713600	Enhancers	HMEC	breast
36	chr2:144713200-144713400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:144713200-144713400	Enhancers	Liver	Liver
38	chr2:144713200-144713400	Enhancers	Colon Smooth Muscle	Colon
39	chr2:144713200-144713400	Flanking Active TSS	Fetal Brain Male	brain
40	chr2:144713200-144713400	Enhancers	Small Intestine	intestine
41	chr2:144713200-144713600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:144713200-144713600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:144713200-144713600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:144713200-144713600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:144713200-144713600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr2:144713200-144713600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:144713200-144713600	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr2:144713200-144713600	Flanking Active TSS	Fetal Lung	lung
49	chr2:144713200-144713600	Enhancers	Ovary	ovary
50	chr2:144713200-144713600	Flanking Active TSS	NHDF-Ad	bronchial

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