Variant report

Variant	rs41300504
Chromosome Location	chr1:84609556-84609557
allele	-/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	ESR1	chr1:84609473-84609850	T-47D	breast:	n/a	chr1:84609650-84609667
2	SP1	chr1:84609545-84610346	HCT-116	colon:	n/a	n/a
3	CTCF	chr1:84609540-84609690	AG10803	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84545204..84547427-chr1:84607809..84609728,2	K562	blood:

Variant related genes	Relation type
PRKACB	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv871731	chr1:84597396-84658591	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv871656	chr1:84601048-84693671	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv997601	chr1:84609346-84672859	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84584000-84609600	Weak transcription	HSMM	muscle
2	chr1:84584000-84609800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:84588000-84618400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:84607000-84613600	Weak transcription	Brain Angular Gyrus	brain
5	chr1:84607200-84609600	Enhancers	Primary hematopoietic stem cells	blood
6	chr1:84607200-84609600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr1:84607200-84609600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:84607200-84609800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:84607200-84609800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:84607200-84609800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:84607400-84609600	Enhancers	HUVEC	blood vessel
12	chr1:84607400-84610000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:84607600-84609800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:84607800-84610000	Weak transcription	Liver	Liver
15	chr1:84608200-84609600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:84608200-84609800	Weak transcription	A549	lung
17	chr1:84608400-84609800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:84608800-84609800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr1:84608800-84609800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:84609000-84609600	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr1:84609000-84609600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr1:84609000-84609800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:84609000-84609800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:84609000-84609800	Enhancers	Fetal Thymus	thymus
25	chr1:84609000-84610000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:84609000-84610000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:84609000-84610800	Weak transcription	Gastric	stomach
28	chr1:84609200-84609600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:84609200-84609800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:84609200-84609800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:84609200-84609800	Weak transcription	Brain Substantia Nigra	brain
32	chr1:84609400-84609600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr1:84609400-84609600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr1:84609400-84609800	Enhancers	Primary B cells from cord blood	blood
35	chr1:84609400-84609800	Enhancers	Primary B cells from peripheral blood	blood
36	chr1:84609400-84609800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr1:84609400-84609800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr1:84609400-84610200	Flanking Active TSS	Dnd41	blood
39	chr1:84609400-84610400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr1:84609400-84610400	Enhancers	Fetal Kidney	kidney
41	chr1:84609400-84612800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:84609400-84612800	Enhancers	Muscle Satellite Cultured Cells	--

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