Variant report

Variant	rs551666644
Chromosome Location	chr1:226612908-226612909
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226595744..226596324-chr1:226612113..226613097,2	K562	blood:
2	chr1:226611970..226613533-chr1:226620881..226623391,2	K562	blood:
3	chr1:226612226..226612932-chr1:226755914..226756415,2	MCF-7	breast:
4	chr1:226612018..226612921-chr1:226737871..226738803,5	MCF-7	breast:
5	chr1:226607208..226609606-chr1:226610785..226615218,4	K562	blood:

Variant related genes	Relation type
ENSG00000143799	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	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv832781	chr1:226570901-226750697	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv3321277	chr1:226612603-226612970	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3321278	chr1:226612623-226612923	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226596200-226622600	Weak transcription	Right Atrium	heart
2	chr1:226602800-226616200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:226606000-226616200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:226606200-226616000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:226607400-226614200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:226608400-226616200	Weak transcription	Fetal Brain Female	brain
7	chr1:226608800-226613200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:226612000-226613000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr1:226612000-226613000	Bivalent Enhancer	Fetal Thymus	thymus
10	chr1:226612000-226613200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr1:226612000-226616000	Enhancers	Dnd41	blood
12	chr1:226612200-226613000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr1:226612200-226613200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:226612200-226613200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr1:226612400-226613000	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:226612400-226613000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr1:226612400-226613000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:226612400-226613000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:226612400-226613000	Enhancers	Brain Cingulate Gyrus	brain
20	chr1:226612400-226613000	Enhancers	Brain Hippocampus Middle	brain
21	chr1:226612400-226613000	Enhancers	Placenta	Placenta
22	chr1:226612400-226613200	Enhancers	Primary B cells from cord blood	blood
23	chr1:226612400-226613200	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr1:226612400-226613200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:226612400-226613200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:226612400-226613200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr1:226612400-226613200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:226612400-226613200	Enhancers	Colon Smooth Muscle	Colon
29	chr1:226612400-226613400	Enhancers	Fetal Muscle Trunk	muscle
30	chr1:226612400-226614200	Enhancers	Primary hematopoietic stem cells	blood
31	chr1:226612400-226616200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:226612400-226616400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:226612600-226616000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:226612600-226616400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:226612600-226616800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:226612800-226613000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr1:226612800-226613400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr1:226612800-226613600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr1:226612800-226613800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:226612800-226613800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:226612800-226613800	Flanking Active TSS	GM12878-XiMat	blood
42	chr1:226612800-226616000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:226612800-226616200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:226612800-226616200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:226612800-226616200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:226612800-226616600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:226612800-226616800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:226612800-226617000	Weak transcription	Fetal Kidney	kidney
49	chr1:226612800-226617800	Weak transcription	Ovary	ovary
50	chr1:226612800-226624600	Weak transcription	Fetal Brain Male	brain

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