Variant report

Variant	rs74054134
Chromosome Location	chr1:9943504-9943505
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9941978..9943694-chr1:9945295..9946902,2	K562	blood:
2	chr1:9930953..9933661-chr1:9942822..9945066,2	K562	blood:
3	chr1:9942393..9946053-chr1:9949993..9953105,3	K562	blood:
4	chr1:9942309..9944442-chr1:9963388..9965697,2	K562	blood:
5	chr1:9942309..9944442-chr1:9963388..9967082,3	K562	blood:
6	chr1:9943092..9944690-chr1:9948920..9950860,2	MCF-7	breast:
7	chr1:9939603..9941923-chr1:9943060..9945342,2	K562	blood:
8	chr1:9943285..9945360-chr1:9959805..9962322,3	K562	blood:

Variant related genes	Relation type
ENSG00000178585	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2379109	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6680479	1.00[AMR][1000 genomes]
rs6696382	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv871146	chr1:9897001-9951288	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9904800-9946000	Weak transcription	Fetal Kidney	kidney
2	chr1:9918600-9943800	Weak transcription	Small Intestine	intestine
3	chr1:9930800-9949600	Weak transcription	Fetal Lung	lung
4	chr1:9932600-9960200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:9933000-9946000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:9935400-9944200	Weak transcription	Ovary	ovary
7	chr1:9935400-9948800	Weak transcription	Primary B cells from cord blood	blood
8	chr1:9935600-9948600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:9935600-9949200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:9935600-9949400	Weak transcription	HUVEC	blood vessel
11	chr1:9935600-9950200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:9935600-9960800	Weak transcription	Fetal Intestine Large	intestine
13	chr1:9935800-9944200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:9935800-9946200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:9935800-9946600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:9935800-9950800	Weak transcription	Aorta	Aorta
17	chr1:9936000-9946200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:9936000-9948800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:9936000-9950000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:9936000-9950000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:9936200-9949800	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:9936400-9960200	Weak transcription	Liver	Liver
23	chr1:9937200-9950000	Weak transcription	Fetal Brain Male	brain
24	chr1:9937400-9943800	Weak transcription	Brain Anterior Caudate	brain
25	chr1:9937400-9944800	Weak transcription	Right Atrium	heart
26	chr1:9937600-9943600	Weak transcription	Brain Angular Gyrus	brain
27	chr1:9937600-9943600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:9937800-9943600	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:9938000-9943800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:9938400-9950000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:9938600-9948800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:9938600-9949000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:9938600-9952800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:9938800-9944000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:9938800-9949600	Weak transcription	Stomach Mucosa	stomach
36	chr1:9940800-9944200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:9940800-9944600	Strong transcription	Fetal Stomach	stomach
38	chr1:9940800-9944800	Enhancers	HMEC	breast
39	chr1:9940800-9952400	Strong transcription	Fetal Intestine Small	intestine
40	chr1:9941000-9944400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr1:9941600-9944000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr1:9941600-9945200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:9941600-9945200	Enhancers	Fetal Thymus	thymus
44	chr1:9941800-9943600	Enhancers	Primary T cells from cord blood	blood
45	chr1:9941800-9943600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr1:9941800-9944200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:9941800-9944800	Enhancers	HSMMtube	muscle
48	chr1:9942000-9944200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr1:9942000-9945400	Strong transcription	Fetal Brain Female	brain
50	chr1:9942000-9946800	Genic enhancers	Cortex derived primary cultured neurospheres	brain

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