Variant report

Variant	rs565519678
Chromosome Location	chr1:193156888-193156889
allele	C/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	MXI1	chr1:193154452-193157811	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193156361..193159258-chr1:193169836..193172237,2	K562	blood:
2	chr1:193156268..193159950-chr1:193162638..193166172,6	K562	blood:

Variant related genes	Relation type
B3GALT2	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv275335	chr1:193155443-193159711	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193131800-193158600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:193140400-193159800	Weak transcription	Dnd41	blood
3	chr1:193140800-193161400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:193144200-193160400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:193148400-193161200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:193150400-193157600	Active TSS	Fetal Brain Female	brain
7	chr1:193150800-193157000	Active TSS	HSMMtube	muscle
8	chr1:193153600-193158000	Active TSS	Right Atrium	heart
9	chr1:193154800-193157400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:193155400-193161400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:193155600-193157200	Weak transcription	Small Intestine	intestine
12	chr1:193155600-193157400	Enhancers	Liver	Liver
13	chr1:193155600-193157600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:193155600-193158200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:193155600-193160000	Weak transcription	Gastric	stomach
16	chr1:193155600-193160200	Weak transcription	K562	blood
17	chr1:193155600-193178400	Weak transcription	HUVEC	blood vessel
18	chr1:193155800-193157000	Enhancers	Rectal Smooth Muscle	rectum
19	chr1:193155800-193157200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:193155800-193157400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:193155800-193157800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:193155800-193158000	Weak transcription	Left Ventricle	heart
23	chr1:193155800-193159400	Weak transcription	GM12878-XiMat	blood
24	chr1:193155800-193159800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:193155800-193160000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:193155800-193160200	Enhancers	Fetal Intestine Small	intestine
27	chr1:193155800-193160400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:193155800-193160600	Weak transcription	Fetal Thymus	thymus
29	chr1:193155800-193161200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:193155800-193161200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr1:193155800-193161400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:193155800-193161400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:193155800-193161400	Weak transcription	Thymus	Thymus
34	chr1:193155800-193161600	Weak transcription	Primary B cells from cord blood	blood
35	chr1:193155800-193161600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:193155800-193175000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:193155800-193183000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
39	chr1:193156000-193157000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:193156000-193157000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr1:193156000-193157200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:193156000-193157200	Weak transcription	Fetal Kidney	kidney
43	chr1:193156000-193157200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:193156000-193157800	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr1:193156000-193158800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:193156000-193159000	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr1:193156000-193159800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:193156000-193160200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:193156000-193160200	Enhancers	Fetal Intestine Large	intestine
50	chr1:193156000-193161800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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