Variant report

Variant	rs12328554
Chromosome Location	chr2:208711397-208711398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10167948	1.00[AFR][1000 genomes]
rs10168314	1.00[AFR][1000 genomes]
rs10193472	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS 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	17 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	chr2:208693400-208711600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:208693600-208712000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:208693600-208772400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr2:208693800-208719800	Weak transcription	Ovary	ovary
5	chr2:208694600-208712600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:208694600-208763200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:208695200-208712000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:208695800-208713000	Weak transcription	Primary T cells from cord blood	blood
9	chr2:208698800-208725000	Weak transcription	Primary B cells from cord blood	blood
10	chr2:208701600-208722400	Weak transcription	Right Ventricle	heart
11	chr2:208701800-208711800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:208701800-208712200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:208701800-208712200	Weak transcription	Right Atrium	heart
14	chr2:208701800-208712400	Weak transcription	Aorta	Aorta
15	chr2:208701800-208724400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:208702000-208712400	Weak transcription	Brain Angular Gyrus	brain
17	chr2:208702000-208712400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:208702000-208712600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:208702200-208712200	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:208702200-208731800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:208704000-208712400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:208704000-208712400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:208704200-208723200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:208704600-208712200	Weak transcription	Left Ventricle	heart
25	chr2:208705200-208719200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:208707000-208711800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:208707400-208725200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:208709200-208713600	Enhancers	Liver	Liver
29	chr2:208709400-208713000	Enhancers	Stomach Mucosa	stomach
30	chr2:208709400-208713600	Enhancers	Fetal Intestine Small	intestine
31	chr2:208709600-208716600	Weak transcription	Gastric	stomach
32	chr2:208709600-208726600	Weak transcription	Lung	lung
33	chr2:208709800-208711800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:208709800-208712600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:208710200-208711800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:208710200-208711800	Weak transcription	Fetal Kidney	kidney
37	chr2:208710200-208712000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:208710200-208712000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:208710200-208712600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:208710400-208714800	Weak transcription	Colonic Mucosa	Colon
41	chr2:208710400-208715000	Enhancers	Pancreas	Pancrea
42	chr2:208710400-208726200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:208710600-208713200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:208710600-208713600	Enhancers	Fetal Intestine Large	intestine
45	chr2:208710800-208711600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:208710800-208711800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:208710800-208711800	Weak transcription	A549	lung
48	chr2:208710800-208712000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:208710800-208713400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:208711000-208712400	Enhancers	HepG2	liver

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