Variant report

Variant	rs41296662
Chromosome Location	chr1:213029879-213029880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213026064..213028809-chr1:213029690..213032627,2	K562	blood:
2	chr1:213025489..213028696-chr1:213029248..213033184,3	K562	blood:
3	chr1:213019184..213021421-chr1:213029036..213031526,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf227-1	chr1:213028819-213030263	XLOC_001197

Variant related genes	Relation type
ENSG00000236317	Chromatin interaction
ENSG00000185523	Chromatin interaction
ENSG00000235182	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	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1011186	chr1:213005165-213069563	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1013705	chr1:213005344-213064209	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv998261	chr1:213029814-213064209	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv998979	chr1:213029814-213073013	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213022600-213030000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:213024200-213030000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:213024200-213030200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:213025200-213030200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:213025800-213030000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:213026000-213030200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:213026000-213030200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:213026200-213030400	Weak transcription	Right Atrium	heart
9	chr1:213026200-213030800	Weak transcription	Thymus	Thymus
10	chr1:213026400-213030200	Weak transcription	Primary T cells from cord blood	blood
11	chr1:213026400-213030400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:213026600-213030000	Weak transcription	Primary B cells from cord blood	blood
13	chr1:213026600-213030000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:213026600-213030000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:213026600-213030000	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:213026600-213030200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:213026600-213030200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:213026600-213030200	Weak transcription	Fetal Kidney	kidney
19	chr1:213026600-213030200	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:213026600-213030200	Weak transcription	Spleen	Spleen
21	chr1:213026600-213030200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:213026600-213030200	Weak transcription	NHEK	skin
23	chr1:213026800-213030000	Enhancers	HepG2	liver
24	chr1:213026800-213030200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:213027000-213030000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:213027000-213030200	Weak transcription	Lung	lung
27	chr1:213027200-213030000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:213027400-213030200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr1:213027400-213030200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:213027600-213030000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:213027600-213030200	Weak transcription	Fetal Stomach	stomach
32	chr1:213027600-213030600	Weak transcription	HSMMtube	muscle
33	chr1:213027800-213030200	Weak transcription	Fetal Intestine Large	intestine
34	chr1:213028200-213030400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:213028400-213030400	Weak transcription	Liver	Liver
36	chr1:213028600-213030200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:213028600-213030200	Weak transcription	Pancreas	Pancrea
38	chr1:213028600-213030400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:213028800-213030000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:213028800-213030000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:213028800-213030000	Weak transcription	Left Ventricle	heart
42	chr1:213028800-213030200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:213028800-213030800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:213029000-213030000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:213029600-213030000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr1:213029600-213030000	Enhancers	Dnd41	blood
47	chr1:213029600-213030600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr1:213029600-213033200	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr1:213029600-213033400	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr1:213029800-213030000	Active TSS	H9 Cell Line	embryonic stem cell

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