Variant report

Variant	rs10487944
Chromosome Location	chr7:69087650-69087651
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17140848	1.00[AMR][1000 genomes]
rs17140871	1.00[AMR][1000 genomes]
rs17350770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17351698	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17353228	1.00[AMR][1000 genomes]
rs2270162	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4140975	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	nsv1023885	chr7:68894896-69158290	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538915	chr7:68894896-69158290	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv428169	chr7:69021482-69196743	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10487944	ALDH1A1	trans	lymphoblastoid	seeQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69076400-69095400	Weak transcription	Fetal Stomach	stomach
2	chr7:69079800-69093600	Weak transcription	Brain Substantia Nigra	brain
3	chr7:69080000-69095200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:69082600-69088400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
5	chr7:69082800-69089600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:69084600-69088600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:69084600-69089400	Weak transcription	Fetal Thymus	thymus
8	chr7:69084800-69087800	Weak transcription	Right Atrium	heart
9	chr7:69084800-69089400	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:69084800-69089600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:69085000-69089400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:69085000-69095400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:69085200-69089400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:69085200-69095000	Weak transcription	Fetal Lung	lung
15	chr7:69085400-69090600	Weak transcription	Brain Germinal Matrix	brain
16	chr7:69085600-69088000	Weak transcription	Fetal Kidney	kidney
17	chr7:69086000-69087800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:69086000-69087800	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:69086000-69087800	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:69086000-69088200	Enhancers	Primary hematopoietic stem cells	blood
21	chr7:69086000-69096400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:69086200-69088200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:69086200-69089000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:69086400-69087800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
25	chr7:69086600-69092200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:69086800-69087800	Weak transcription	Ovary	ovary
27	chr7:69086800-69088600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr7:69086800-69088600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:69086800-69091000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:69087000-69088400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:69087000-69089800	Enhancers	GM12878-XiMat	blood
32	chr7:69087200-69088000	Enhancers	Fetal Brain Male	brain
33	chr7:69087200-69088200	Enhancers	Fetal Brain Female	brain
34	chr7:69087200-69088200	Enhancers	Rectal Smooth Muscle	rectum
35	chr7:69087200-69088400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:69087200-69089200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:69087200-69091200	Enhancers	Fetal Heart	heart
38	chr7:69087400-69088400	Weak transcription	Brain Anterior Caudate	brain
39	chr7:69087400-69088800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:69087600-69088000	Enhancers	Stomach Smooth Muscle	stomach
41	chr7:69087600-69088200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:69087600-69088200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:69087600-69088200	Enhancers	Adipose Nuclei	Adipose
44	chr7:69087600-69088400	Enhancers	Placenta Amnion	Placenta Amnion

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