Variant report

Variant	rs35935939
Chromosome Location	chr12:124421844-124421845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2046806	1.00[AMR][1000 genomes]
rs34599389	1.00[AMR][1000 genomes]
rs61744221	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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv1811815	chr12:124374716-124424636	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1832870	chr12:124374716-124424636	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv522321	chr12:124383950-124424636	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124407400-124422000	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr12:124408800-124428000	Weak transcription	Right Atrium	heart
3	chr12:124409600-124426200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:124415000-124423000	Weak transcription	HSMM	muscle
5	chr12:124417200-124424400	Weak transcription	Colonic Mucosa	Colon
6	chr12:124417400-124422000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:124417600-124443600	Weak transcription	Fetal Kidney	kidney
8	chr12:124417800-124422000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:124417800-124427400	Weak transcription	Fetal Brain Male	brain
10	chr12:124417800-124428400	Strong transcription	Brain Germinal Matrix	brain
11	chr12:124418000-124428400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:124418000-124431000	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:124418200-124422000	Weak transcription	Dnd41	blood
14	chr12:124418200-124426200	Strong transcription	Fetal Intestine Small	intestine
15	chr12:124418200-124427800	Strong transcription	Fetal Brain Female	brain
16	chr12:124418200-124430800	Strong transcription	Stomach Smooth Muscle	stomach
17	chr12:124418200-124431400	Strong transcription	Fetal Stomach	stomach
18	chr12:124418400-124422200	Strong transcription	Brain Cingulate Gyrus	brain
19	chr12:124418600-124422400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:124418600-124430800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:124418800-124422000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:124418800-124422200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:124418800-124422800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:124419000-124422000	Strong transcription	Placenta	Placenta
25	chr12:124419000-124422400	Strong transcription	Aorta	Aorta
26	chr12:124419000-124428400	Strong transcription	Fetal Muscle Leg	muscle
27	chr12:124419200-124422000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr12:124419200-124422200	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr12:124419200-124422400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:124419200-124422400	Strong transcription	Adipose Nuclei	Adipose
31	chr12:124419200-124422600	Strong transcription	Brain Substantia Nigra	brain
32	chr12:124419200-124422800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr12:124419200-124423000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:124419200-124426200	Weak transcription	Fetal Heart	heart
35	chr12:124419400-124422000	Strong transcription	Brain Anterior Caudate	brain
36	chr12:124419400-124422000	Strong transcription	Spleen	Spleen
37	chr12:124419400-124426400	Weak transcription	A549	lung
38	chr12:124419600-124422000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:124419600-124422200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:124419800-124422200	Strong transcription	Osteobl	bone
41	chr12:124419800-124422400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr12:124419800-124422600	Strong transcription	Lung	lung
43	chr12:124419800-124425000	Weak transcription	NHDF-Ad	bronchial
44	chr12:124419800-124426000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:124419800-124426200	Strong transcription	Fetal Intestine Large	intestine
46	chr12:124420000-124422800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:124420000-124425800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:124420200-124433000	Weak transcription	Small Intestine	intestine
49	chr12:124420400-124422000	Genic enhancers	Fetal Thymus	thymus
50	chr12:124420400-124422200	Weak transcription	Monocytes-CD14+_RO01746	blood

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