Variant report

Variant	rs181134376
Chromosome Location	chr1:70607211-70607212
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70606579..70609498-chr1:70685222..70687844,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC7-1	chr1:70607065-70610047	ENSG00000261223.1

Variant related genes	Relation type
ENSG00000116754	Chromatin interaction
ENSG00000228988	Chromatin interaction

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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70596800-70609200	Weak transcription	Liver	Liver
2	chr1:70599000-70609600	Weak transcription	GM12878-XiMat	blood
3	chr1:70601000-70615400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:70601000-70643200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:70601200-70652000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:70603000-70614800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:70603400-70648800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:70604600-70608600	Enhancers	Fetal Lung	lung
9	chr1:70605200-70612200	Weak transcription	Primary B cells from cord blood	blood
10	chr1:70605400-70608000	Enhancers	Fetal Stomach	stomach
11	chr1:70605400-70608200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:70605400-70639400	Weak transcription	Brain Anterior Caudate	brain
13	chr1:70605800-70607400	Enhancers	Colon Smooth Muscle	Colon
14	chr1:70605800-70608000	Enhancers	Adipose Nuclei	Adipose
15	chr1:70605800-70608800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:70605800-70609200	Enhancers	NHDF-Ad	bronchial
17	chr1:70605800-70609200	Enhancers	NHLF	lung
18	chr1:70605800-70609600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr1:70606000-70607800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:70606000-70608000	Enhancers	Fetal Brain Female	brain
21	chr1:70606000-70608200	Enhancers	Rectal Smooth Muscle	rectum
22	chr1:70606200-70608000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:70606200-70610600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:70606400-70608400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr1:70606400-70609800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:70606400-70611200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:70606400-70612200	Weak transcription	Primary T cells from cord blood	blood
28	chr1:70606600-70608800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr1:70606600-70609200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr1:70606600-70610200	Weak transcription	NH-A	brain
31	chr1:70606600-70611400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:70606600-70611800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:70606600-70612800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:70606600-70614800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:70606600-70617600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:70606600-70619600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:70606600-70629600	Weak transcription	Fetal Intestine Small	intestine
38	chr1:70606600-70633800	Weak transcription	Fetal Intestine Large	intestine
39	chr1:70606800-70608400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:70606800-70609200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:70606800-70609200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:70606800-70609400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:70606800-70610400	Weak transcription	Fetal Heart	heart
44	chr1:70606800-70612800	Weak transcription	Fetal Kidney	kidney
45	chr1:70606800-70617000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:70606800-70627800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:70606800-70634800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:70606800-70634800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:70606800-70651600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr1:70606800-70661800	Weak transcription	Brain Hippocampus Middle	brain

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