Variant report

Variant	rs13407143
Chromosome Location	chr2:182788215-182788216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:182759437..182761037-chr2:182786462..182788381,2	K562	blood:
2	chr2:182757398..182762251-chr2:182784880..182789284,4	K562	blood:
3	chr2:182607629..182610219-chr2:182786468..182788994,2	MCF-7	breast:
4	chr2:182787404..182790011-chr2:182883297..182885395,2	MCF-7	breast:
5	chr2:182787158..182788882-chr2:182942568..182944661,2	MCF-7	breast:
6	chr2:182782342..182783948-chr2:182787035..182788625,2	K562	blood:
7	chr2:182757407..182759971-chr2:182787015..182789928,4	MCF-7	breast:
8	chr2:182778913..182780583-chr2:182786458..182788567,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138434	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10171957	0.90[YRI][hapmap]
rs10181991	1.00[AMR][1000 genomes]
rs11887558	1.00[AMR][1000 genomes]
rs11890230	1.00[AMR][1000 genomes]
rs11894897	1.00[AMR][1000 genomes]
rs11896011	1.00[AMR][1000 genomes]
rs11898245	1.00[AMR][1000 genomes]
rs11903559	1.00[AMR][1000 genomes]
rs13384392	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13384479	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13395789	1.00[AMR][1000 genomes]
rs13405727	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13419020	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];0.81[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16867501	1.00[AMR][1000 genomes]
rs73032631	1.00[AMR][1000 genomes]
rs73032655	1.00[AMR][1000 genomes]
rs73032661	1.00[AMR][1000 genomes]
rs73032669	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032673	1.00[AMR][1000 genomes]
rs73032699	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73038912	1.00[AMR][1000 genomes]
rs73038938	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182757800-182790400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:182759800-182789400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:182760000-182794800	Strong transcription	Fetal Thymus	thymus
4	chr2:182761400-182795800	Strong transcription	Placenta	Placenta
5	chr2:182769400-182795600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:182769600-182795800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:182769600-182795800	Strong transcription	Dnd41	blood
8	chr2:182772400-182790800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:182774000-182790800	Strong transcription	HMEC	breast
10	chr2:182774600-182788400	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:182774600-182795200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:182775000-182788800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:182775800-182792200	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr2:182775800-182792600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr2:182775800-182795800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:182775800-182795800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr2:182776000-182795800	Strong transcription	Hela-S3	cervix
18	chr2:182776200-182793200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:182776800-182791600	Strong transcription	Fetal Intestine Large	intestine
20	chr2:182777200-182788400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:182778800-182792800	Strong transcription	Primary hematopoietic stem cells	blood
22	chr2:182778800-182792800	Strong transcription	Duodenum Mucosa	Duodenum
23	chr2:182779000-182790800	Strong transcription	HSMMtube	muscle
24	chr2:182779600-182796000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:182779800-182795200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:182780400-182791200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:182781000-182788600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:182781000-182796000	Weak transcription	Psoas Muscle	Psoas
29	chr2:182781000-182796400	Weak transcription	Esophagus	oesophagus
30	chr2:182781200-182795400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:182781400-182788400	Strong transcription	Adipose Nuclei	Adipose
32	chr2:182781400-182789200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:182781400-182791000	Weak transcription	Fetal Brain Male	brain
34	chr2:182781400-182793200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:182781400-182794200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:182781600-182793200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:182781800-182791200	Strong transcription	NHLF	lung
38	chr2:182781800-182796000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:182781800-182797000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:182782000-182788400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:182782400-182789000	Strong transcription	Brain Hippocampus Middle	brain
42	chr2:182782400-182790600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:182782400-182790600	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr2:182782400-182790800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:182782400-182790800	Strong transcription	HSMM	muscle
46	chr2:182782400-182790800	Strong transcription	NHEK	skin
47	chr2:182782400-182795600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:182782600-182788400	Strong transcription	Osteobl	bone
49	chr2:182782600-182791000	Strong transcription	HUVEC	blood vessel
50	chr2:182782600-182795800	Weak transcription	Fetal Brain Female	brain

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