Variant report

Variant	rs181547450
Chromosome Location	chr1:179324147-179324148
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179319218..179322738-chr1:179324103..179326545,3	K562	blood:
2	chr1:179050571..179052997-chr1:179322581..179325112,2	MCF-7	breast:
3	chr1:179321788..179324308-chr1:179333616..179335747,3	MCF-7	breast:
4	chr1:179323629..179325492-chr1:179329945..179332466,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186283	Chromatin interaction
ENSG00000162779	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005278	chr1:179197645-179371395	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv1804302	chr1:179315357-179333194	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv548277	chr1:179319868-179333194	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1809332	chr1:179320578-179333194	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
5	esv2762031	chr1:179323738-179375197	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv548278	chr1:179323919-179333194	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv518403	chr1:179323919-179371973	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv548279	chr1:179323919-179390148	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179264800-179334200	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:179292400-179328000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:179294200-179324600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:179296800-179327800	Weak transcription	Colonic Mucosa	Colon
5	chr1:179298600-179324200	Weak transcription	Thymus	Thymus
6	chr1:179300400-179334600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:179303200-179324600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:179304200-179324400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:179304200-179324400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr1:179304200-179324600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:179304200-179325200	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:179304400-179324400	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:179304600-179324200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:179305200-179327200	Weak transcription	Right Ventricle	heart
15	chr1:179305600-179334200	Weak transcription	Pancreas	Pancrea
16	chr1:179306800-179324600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:179307400-179325800	Weak transcription	Esophagus	oesophagus
18	chr1:179307600-179325200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:179308000-179324400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:179309800-179326400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:179310000-179325200	Strong transcription	Primary T cells from cord blood	blood
22	chr1:179310400-179324400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr1:179311200-179325200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:179311600-179326400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr1:179312000-179324200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:179312000-179324800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:179312200-179325200	Strong transcription	Liver	Liver
28	chr1:179312600-179334400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:179314600-179326200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:179314800-179327800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:179314800-179334400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:179315000-179324600	Weak transcription	Spleen	Spleen
33	chr1:179315000-179334400	Weak transcription	Brain Substantia Nigra	brain
34	chr1:179315000-179334400	Weak transcription	Left Ventricle	heart
35	chr1:179315400-179334400	Weak transcription	Fetal Kidney	kidney
36	chr1:179315600-179334400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:179315800-179334200	Weak transcription	Fetal Thymus	thymus
38	chr1:179316000-179327600	Weak transcription	Brain Angular Gyrus	brain
39	chr1:179316000-179334000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:179316000-179334200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:179316000-179334400	Weak transcription	Fetal Brain Female	brain
42	chr1:179316000-179334400	Weak transcription	Ovary	ovary
43	chr1:179316200-179324600	Weak transcription	Psoas Muscle	Psoas
44	chr1:179316400-179332800	Weak transcription	Fetal Intestine Small	intestine
45	chr1:179316800-179324400	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr1:179317000-179324200	Strong transcription	Hela-S3	cervix
47	chr1:179317600-179334400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:179317800-179327800	Weak transcription	NHEK	skin
49	chr1:179319200-179324200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:179319200-179334400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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