Variant report

Variant	rs571044865
Chromosome Location	chr1:70606828-70606829
allele	A/G
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	CTCF	chr1:70606720-70606870	AG10803	skin:	n/a	n/a
2	ZNF263	chr1:70606382-70607009	HEK293-T-REx	kidney:	n/a	n/a
3	GATA2	chr1:70606566-70606973	HUVEC	blood vessel:	n/a	chr1:70606826-70606833 chr1:70606807-70606821 chr1:70606826-70606833 chr1:70606826-70606833 chr1:70606803-70606824
4	RCOR1	chr1:70606603-70606955	K562	blood:	n/a	n/a
5	GATA3	chr1:70606540-70607126	SK-N-SH	brain:	n/a	chr1:70606826-70606833 chr1:70606826-70606833 chr1:70606826-70606833 chr1:70606803-70606824
6	JUN	chr1:70606635-70606835	K562	blood:	n/a	n/a
7	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

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

Variant related genes	Relation type
LRRC7	TF binding region
ENSG00000228988	Chromatin interaction
ENSG00000116754	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:76 , 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	chr1:70605200-70607000	Enhancers	Brain Germinal Matrix	brain
10	chr1:70605200-70607000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:70605200-70607000	Enhancers	Ovary	ovary
12	chr1:70605200-70607200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:70605200-70612200	Weak transcription	Primary B cells from cord blood	blood
14	chr1:70605400-70608000	Enhancers	Fetal Stomach	stomach
15	chr1:70605400-70608200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:70605400-70639400	Weak transcription	Brain Anterior Caudate	brain
17	chr1:70605800-70607000	Enhancers	Fetal Muscle Leg	muscle
18	chr1:70605800-70607400	Enhancers	Colon Smooth Muscle	Colon
19	chr1:70605800-70608000	Enhancers	Adipose Nuclei	Adipose
20	chr1:70605800-70608800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:70605800-70609200	Enhancers	NHDF-Ad	bronchial
22	chr1:70605800-70609200	Enhancers	NHLF	lung
23	chr1:70605800-70609600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr1:70606000-70607000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:70606000-70607000	Enhancers	Aorta	Aorta
26	chr1:70606000-70607000	Enhancers	HSMM	muscle
27	chr1:70606000-70607000	Enhancers	HSMMtube	muscle
28	chr1:70606000-70607200	Enhancers	Osteobl	bone
29	chr1:70606000-70607800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:70606000-70608000	Enhancers	Fetal Brain Female	brain
31	chr1:70606000-70608200	Enhancers	Rectal Smooth Muscle	rectum
32	chr1:70606200-70607000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:70606200-70607000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:70606200-70607000	Enhancers	Psoas Muscle	Psoas
35	chr1:70606200-70607000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr1:70606200-70607200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:70606200-70608000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:70606200-70610600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr1:70606400-70607000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:70606400-70607000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:70606400-70607000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:70606400-70607000	Flanking Active TSS	Fetal Brain Male	brain
43	chr1:70606400-70607000	Enhancers	Small Intestine	intestine
44	chr1:70606400-70607200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr1:70606400-70608400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr1:70606400-70609800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:70606400-70611200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:70606400-70612200	Weak transcription	Primary T cells from cord blood	blood
49	chr1:70606600-70607000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:70606600-70607000	Enhancers	K562	blood

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