Variant report

Variant	rs527408766
Chromosome Location	chr1:9964971-9964972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9963862..9967458-chr1:9967663..9970423,5	K562	blood:
2	chr1:9963836..9965578-chr1:9968398..9970356,2	MCF-7	breast:
3	chr1:9958455..9962584-chr1:9963252..9967560,5	MCF-7	breast:
4	chr1:9942309..9944442-chr1:9963388..9967082,3	K562	blood:
5	chr1:9942309..9944442-chr1:9963388..9965697,2	K562	blood:

Variant related genes	Relation type
ENSG00000178585	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv545380	chr1:9918183-9987007	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1012301	chr1:9963962-10118393	Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv534853	chr1:9963962-10118393	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv534854	chr1:9964726-10001012	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9949400-9967600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:9951600-9969000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:9958000-9968800	Weak transcription	Fetal Stomach	stomach
4	chr1:9958800-9969000	Weak transcription	Hela-S3	cervix
5	chr1:9960800-9967800	Weak transcription	Thymus	Thymus
6	chr1:9960800-9969400	Weak transcription	Aorta	Aorta
7	chr1:9961000-9965000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:9961000-9967600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:9961000-9968800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr1:9961000-9969000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:9961000-9969200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:9961200-9969000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:9961400-9965600	Enhancers	Left Ventricle	heart
14	chr1:9961400-9969000	Weak transcription	Primary B cells from cord blood	blood
15	chr1:9961600-9968800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:9961600-9968800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:9961800-9968000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:9962000-9965000	Weak transcription	HMEC	breast
19	chr1:9962000-9967600	Weak transcription	Brain Germinal Matrix	brain
20	chr1:9962000-9968800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:9962000-9968800	Weak transcription	Small Intestine	intestine
22	chr1:9962000-9969000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:9962000-9969000	Weak transcription	Fetal Brain Female	brain
24	chr1:9962200-9965000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:9962200-9965000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:9962200-9966600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:9962200-9966600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:9962200-9967800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:9962200-9967800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:9962200-9968800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:9962200-9969000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:9962400-9965000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:9962400-9965000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:9962400-9965000	Weak transcription	K562	blood
35	chr1:9962400-9967600	Weak transcription	Esophagus	oesophagus
36	chr1:9962400-9968800	Weak transcription	Fetal Intestine Small	intestine
37	chr1:9962400-9969000	Weak transcription	Fetal Thymus	thymus
38	chr1:9962400-9969000	Weak transcription	Spleen	Spleen
39	chr1:9962400-9969200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:9962600-9966800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:9962600-9967400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:9962600-9967600	Weak transcription	Pancreas	Pancrea
43	chr1:9962600-9968800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:9962600-9968800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:9962600-9969000	Weak transcription	Brain Angular Gyrus	brain
46	chr1:9962600-9969000	Weak transcription	Fetal Lung	lung
47	chr1:9962800-9966600	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:9962800-9966600	Weak transcription	Lung	lung
49	chr1:9962800-9967600	Weak transcription	Adipose Nuclei	Adipose
50	chr1:9962800-9967600	Weak transcription	Ovary	ovary

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