Variant report

Variant	rs12477496
Chromosome Location	chr2:73821335-73821336
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12466032	0.80[AMR][1000 genomes]
rs12475442	0.85[AMR][1000 genomes]
rs12479158	0.80[AMR][1000 genomes]
rs17009051	0.82[AMR][1000 genomes]
rs17009061	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17009070	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17848867	0.91[AMR][1000 genomes]
rs28730853	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs34617744	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs55745821	0.82[AMR][1000 genomes]
rs6706333	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6708480	0.80[AMR][1000 genomes]
rs6734298	0.88[AMR][1000 genomes]
rs6746054	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs7567443	0.85[AMR][1000 genomes]
rs7603801	0.81[AFR][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	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS 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	36 gene(s)	inside rSNPs	diseases
4	nsv874267	chr2:73717656-73857002	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73759600-73828000	Weak transcription	Pancreas	Pancrea
2	chr2:73760600-73828000	Weak transcription	Right Ventricle	heart
3	chr2:73765800-73837800	Weak transcription	Fetal Brain Male	brain
4	chr2:73776000-73821600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:73785400-73838200	Weak transcription	Psoas Muscle	Psoas
6	chr2:73792200-73828600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:73797400-73828400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:73800400-73827600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:73800600-73821600	Weak transcription	Primary B cells from cord blood	blood
10	chr2:73800600-73822400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:73800600-73828000	Weak transcription	Gastric	stomach
12	chr2:73800600-73828400	Weak transcription	Aorta	Aorta
13	chr2:73800600-73828600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:73800800-73827800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:73800800-73827800	Weak transcription	Left Ventricle	heart
16	chr2:73800800-73828000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:73800800-73828200	Weak transcription	Brain Substantia Nigra	brain
18	chr2:73800800-73828800	Weak transcription	HSMM	muscle
19	chr2:73801000-73844000	Weak transcription	Fetal Kidney	kidney
20	chr2:73807000-73828200	Weak transcription	Fetal Thymus	thymus
21	chr2:73807600-73828000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:73807600-73828000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:73807600-73829200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:73807800-73827400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:73808200-73821600	Weak transcription	Dnd41	blood
26	chr2:73808200-73827800	Weak transcription	Fetal Stomach	stomach
27	chr2:73808400-73828000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:73808600-73821800	Weak transcription	Fetal Lung	lung
29	chr2:73808600-73828000	Weak transcription	Thymus	Thymus
30	chr2:73808800-73821600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:73808800-73828000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:73808800-73828000	Weak transcription	Adipose Nuclei	Adipose
33	chr2:73812800-73828600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:73813200-73822200	Weak transcription	Fetal Intestine Small	intestine
35	chr2:73815600-73822000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:73815600-73827400	Weak transcription	Primary T cells from cord blood	blood
37	chr2:73815600-73827600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:73815600-73828200	Weak transcription	Fetal Brain Female	brain
39	chr2:73815600-73828200	Weak transcription	HepG2	liver
40	chr2:73815600-73828400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:73815600-73828400	Weak transcription	Brain Anterior Caudate	brain
42	chr2:73815600-73836000	Weak transcription	A549	lung
43	chr2:73815800-73821600	Weak transcription	Brain Germinal Matrix	brain
44	chr2:73815800-73826000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:73815800-73828000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:73815800-73828200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:73816000-73821600	Weak transcription	Ovary	ovary
48	chr2:73816000-73822200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:73816000-73827800	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:73816000-73828000	Weak transcription	Brain Angular Gyrus	brain

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