Variant report

Variant	rs6681118
Chromosome Location	chr1:9928875-9928876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9921008..9924998-chr1:9925415..9929659,6	K562	blood:
2	chr1:9882893..9885671-chr1:9926965..9929372,3	MCF-7	breast:
3	chr1:9927613..9929212-chr1:9967136..9969117,2	K562	blood:
4	chr1:9921625..9924250-chr1:9926048..9928989,2	K562	blood:

Variant related genes	Relation type
ENSG00000171603	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17034420	0.83[AMR][1000 genomes]
rs4417070	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs6541068	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6660069	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs6686710	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs6695334	0.88[AMR][1000 genomes]
rs72858042	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs72858053	0.95[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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9904000-9929800	Weak transcription	Aorta	Aorta
2	chr1:9904400-9930000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:9904600-9935000	Weak transcription	Osteobl	bone
4	chr1:9904800-9946000	Weak transcription	Fetal Kidney	kidney
5	chr1:9907000-9930000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:9907400-9929800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:9910000-9935000	Weak transcription	NHLF	lung
8	chr1:9911000-9930400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:9911200-9932400	Weak transcription	Fetal Heart	heart
10	chr1:9912200-9929600	Weak transcription	Primary B cells from cord blood	blood
11	chr1:9912200-9929600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:9914000-9929600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:9914000-9929800	Weak transcription	Primary T cells from cord blood	blood
14	chr1:9915800-9935200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:9917800-9934400	Strong transcription	Fetal Intestine Small	intestine
16	chr1:9918000-9932800	Strong transcription	Fetal Brain Female	brain
17	chr1:9918200-9932800	Strong transcription	Lung	lung
18	chr1:9918600-9943800	Weak transcription	Small Intestine	intestine
19	chr1:9920000-9929400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:9920000-9929400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:9920000-9929600	Weak transcription	Thymus	Thymus
22	chr1:9920000-9930400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:9920200-9929600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:9920200-9930400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:9920200-9932200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:9920200-9935200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:9920400-9930000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:9920400-9930400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:9921000-9934800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:9921200-9929600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:9921200-9932600	Weak transcription	HSMMtube	muscle
32	chr1:9921400-9932400	Weak transcription	HSMM	muscle
33	chr1:9921600-9930000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:9921800-9929800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:9921800-9934800	Weak transcription	Right Atrium	heart
36	chr1:9922000-9933200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:9923800-9935200	Weak transcription	A549	lung
38	chr1:9924000-9929800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:9924200-9934400	Strong transcription	Fetal Stomach	stomach
40	chr1:9924200-9935200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:9924200-9935200	Weak transcription	Brain Substantia Nigra	brain
42	chr1:9925800-9930600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:9925800-9931800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:9925800-9932000	Strong transcription	Fetal Intestine Large	intestine
45	chr1:9925800-9932400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:9925800-9933400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:9925800-9933600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr1:9926000-9929000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr1:9926000-9932600	Strong transcription	Stomach Smooth Muscle	stomach
50	chr1:9926000-9932800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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