Variant report

Variant	rs553202748
Chromosome Location	chr1:10241724-10241725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10236689..10240278-chr1:10240808..10244135,3	K562	blood:

Variant related genes	Relation type
ENSG00000130939	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv3339224	chr1:10241670-10242029	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10221800-10242200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10230400-10245800	Weak transcription	Stomach Mucosa	stomach
3	chr1:10231200-10251600	Weak transcription	Right Atrium	heart
4	chr1:10231400-10242200	Strong transcription	Fetal Intestine Small	intestine
5	chr1:10232800-10246800	Weak transcription	Fetal Kidney	kidney
6	chr1:10233200-10241800	Weak transcription	A549	lung
7	chr1:10233200-10242400	Weak transcription	Fetal Heart	heart
8	chr1:10233200-10258200	Weak transcription	Hela-S3	cervix
9	chr1:10234200-10249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:10235800-10241800	Strong transcription	Liver	Liver
11	chr1:10236400-10241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:10236400-10258200	Weak transcription	HSMM	muscle
13	chr1:10237000-10242200	Strong transcription	Fetal Stomach	stomach
14	chr1:10237200-10241800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:10237800-10241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:10238000-10241800	Strong transcription	Lung	lung
17	chr1:10238200-10241800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:10238600-10241800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:10238800-10241800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:10238800-10241800	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:10239000-10244600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:10239200-10242800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:10239600-10242000	Weak transcription	Small Intestine	intestine
24	chr1:10239800-10242400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:10240000-10249600	Weak transcription	GM12878-XiMat	blood
26	chr1:10240000-10255400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:10240200-10242000	Weak transcription	NHLF	lung
28	chr1:10240200-10242200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:10240200-10243600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:10240200-10246400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:10240200-10246800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:10240400-10241800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:10240400-10241800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:10240400-10242200	Weak transcription	HMEC	breast
35	chr1:10240400-10242800	Weak transcription	K562	blood
36	chr1:10240400-10244200	Weak transcription	Primary B cells from cord blood	blood
37	chr1:10240400-10244600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:10240400-10245600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:10240400-10246400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:10240400-10246400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:10240400-10246600	Weak transcription	Fetal Brain Female	brain
42	chr1:10240400-10246800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:10240400-10250000	Weak transcription	Fetal Brain Male	brain
44	chr1:10240600-10242200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:10240600-10242400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:10240600-10242800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:10240600-10242800	Weak transcription	HUVEC	blood vessel
48	chr1:10240600-10243200	Weak transcription	Brain Germinal Matrix	brain
49	chr1:10240800-10241800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:10240800-10243800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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