Variant report

Variant	rs17333297
Chromosome Location	chr7:107950504-107950505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107945282..107948369-chr7:107949981..107952858,4	K562	blood:
2	chr7:107948237..107951019-chr7:107962577..107964592,2	MCF-7	breast:
3	chr7:107941830..107944021-chr7:107948605..107950880,3	MCF-7	breast:
4	chr7:107946487..107948369-chr7:107949366..107951940,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1269632	1.00[CHD][hapmap]
rs1269633	1.00[CHD][hapmap]
rs1269657	1.00[CHD][hapmap]
rs17155059	0.82[MEX][hapmap]
rs41409846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73416361	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807435	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv888942	chr7:107893695-108055858	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv888943	chr7:107893695-108058574	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1030425	chr7:107910716-108041036	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1019059	chr7:107935905-107995523	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv1021783	chr7:107935905-107998281	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv2761354	chr7:107935905-107998293	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1031824	chr7:107935905-108006038	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv1017288	chr7:107939739-108000837	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17333297	LGALS9	trans	lymphoblastoid	seeQTL

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107925400-107952000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:107932000-107950600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:107935400-107950600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:107940400-107964400	Weak transcription	Pancreas	Pancrea
5	chr7:107945400-107953800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:107945600-107954000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:107945800-107952600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:107945800-107954000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:107945800-107956000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:107947000-107953800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:107947200-107951400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:107947400-107951000	Enhancers	Brain Cingulate Gyrus	brain
13	chr7:107947600-107950800	Enhancers	Brain Anterior Caudate	brain
14	chr7:107947600-107951600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:107947600-107952600	Enhancers	HSMMtube	muscle
16	chr7:107947600-107953400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:107947600-107953800	Enhancers	HMEC	breast
18	chr7:107947600-107954000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:107947600-107955200	Enhancers	HUVEC	blood vessel
20	chr7:107947800-107953400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:107948000-107951600	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:107948000-107952000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:107948000-107965200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:107948200-107951400	Enhancers	GM12878-XiMat	blood
25	chr7:107948200-107953800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:107948400-107950600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:107948400-107950800	Weak transcription	Esophagus	oesophagus
28	chr7:107948600-107952600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:107949000-107952400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:107949200-107950800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:107949400-107950600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:107949400-107951800	Weak transcription	NHDF-Ad	bronchial
33	chr7:107949400-107952000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:107949400-107952600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:107949400-107952600	Enhancers	HSMM	muscle
36	chr7:107949600-107950600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:107949600-107950600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:107949600-107950800	Weak transcription	NH-A	brain
39	chr7:107949600-107951600	Weak transcription	Brain Angular Gyrus	brain
40	chr7:107949600-107951800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr7:107949600-107953800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr7:107949600-107953800	Enhancers	NHEK	skin
43	chr7:107949600-107955600	Weak transcription	Adipose Nuclei	Adipose
44	chr7:107949800-107950600	Weak transcription	Brain Substantia Nigra	brain
45	chr7:107950000-107950600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:107950000-107950800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr7:107950000-107951200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr7:107950000-107952000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:107950200-107950600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:107950200-107950800	Weak transcription	A549	lung

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