Variant report

Variant	rs373555617
Chromosome Location	chr1:70605877-70605878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr1:70605801-70607328	SK-N-SH	brain:	n/a	chr1:70606208-70606223 chr1:70606208-70606223 chr1:70606211-70606225 chr1:70606208-70606223 chr1:70606213-70606222 chr1:70606207-70606224

Variant related genes	Relation type
LRRC7	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531879	chr1:70386455-70644617	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005397	chr1:70598803-70634585	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	esv1796744	chr1:70604106-70621290	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1798518	chr1:70604106-70723347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1797140	chr1:70604106-70724622	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv871339	chr1:70605735-70634463	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70596800-70609200	Weak transcription	Liver	Liver
2	chr1:70599000-70606000	Weak transcription	Osteobl	bone
3	chr1:70599000-70606600	Weak transcription	K562	blood
4	chr1:70599000-70609600	Weak transcription	GM12878-XiMat	blood
5	chr1:70600200-70606000	Weak transcription	Aorta	Aorta
6	chr1:70601000-70615400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:70601000-70643200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:70601200-70606000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:70601200-70606200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:70601200-70652000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:70603000-70614800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:70603400-70648800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:70604600-70608600	Enhancers	Fetal Lung	lung
14	chr1:70604800-70606400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:70605200-70606200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:70605200-70606200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:70605200-70607000	Enhancers	Brain Germinal Matrix	brain
18	chr1:70605200-70607000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:70605200-70607000	Enhancers	Ovary	ovary
20	chr1:70605200-70607200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:70605200-70612200	Weak transcription	Primary B cells from cord blood	blood
22	chr1:70605400-70606200	Weak transcription	Psoas Muscle	Psoas
23	chr1:70605400-70606600	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr1:70605400-70608000	Enhancers	Fetal Stomach	stomach
25	chr1:70605400-70608200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:70605400-70639400	Weak transcription	Brain Anterior Caudate	brain
27	chr1:70605600-70606000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:70605600-70606000	Enhancers	Fetal Brain Male	brain
29	chr1:70605600-70606000	Flanking Active TSS	Fetal Brain Female	brain
30	chr1:70605600-70606400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:70605800-70606000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr1:70605800-70606200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr1:70605800-70606400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:70605800-70606600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:70605800-70606800	Enhancers	Fetal Heart	heart
36	chr1:70605800-70606800	Enhancers	Fetal Kidney	kidney
37	chr1:70605800-70607000	Enhancers	Fetal Muscle Leg	muscle
38	chr1:70605800-70607400	Enhancers	Colon Smooth Muscle	Colon
39	chr1:70605800-70608000	Enhancers	Adipose Nuclei	Adipose
40	chr1:70605800-70608800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:70605800-70609200	Enhancers	NHDF-Ad	bronchial
42	chr1:70605800-70609200	Enhancers	NHLF	lung
43	chr1:70605800-70609600	Weak transcription	Primary monocytes fromperipheralblood	blood

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