Variant report

Variant	rs67975966
Chromosome Location	chr1:75168986-75168987
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:75167587-75169143	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:75168494-75169008	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75165629..75168544-chr1:75168897..75171535,2	K562	blood:

Variant related genes	Relation type
ENSG00000272864	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17552114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17552134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17617240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60887187	0.88[EUR][1000 genomes]
rs67072967	0.87[EUR][1000 genomes]
rs68188053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2762153	chr1:75142205-75171211	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv871152	chr1:75152186-75197533	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
6	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75141800-75179600	Weak transcription	Aorta	Aorta
2	chr1:75156000-75183400	Weak transcription	Fetal Heart	heart
3	chr1:75156200-75169200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:75156200-75169200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:75159400-75187400	Weak transcription	NHEK	skin
6	chr1:75159800-75176600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:75160000-75169200	Weak transcription	Osteobl	bone
8	chr1:75160000-75169600	Weak transcription	A549	lung
9	chr1:75160000-75169600	Weak transcription	HMEC	breast
10	chr1:75160000-75170200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:75160000-75171000	Weak transcription	NH-A	brain
12	chr1:75161400-75171800	Weak transcription	HepG2	liver
13	chr1:75164000-75176600	Weak transcription	Fetal Intestine Small	intestine
14	chr1:75164000-75176600	Weak transcription	Fetal Stomach	stomach
15	chr1:75164200-75178600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:75164600-75169400	Weak transcription	Primary B cells from cord blood	blood
17	chr1:75164800-75178400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:75165000-75176600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:75165200-75169000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:75166200-75169800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:75166200-75183800	Weak transcription	Brain Anterior Caudate	brain
22	chr1:75166400-75169000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:75166400-75169400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:75166400-75169800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:75166400-75174600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr1:75166400-75191400	Weak transcription	Placenta	Placenta
27	chr1:75166600-75169600	Weak transcription	Psoas Muscle	Psoas
28	chr1:75166600-75182800	Weak transcription	HSMM	muscle
29	chr1:75166600-75194800	Weak transcription	Esophagus	oesophagus
30	chr1:75166800-75169000	Weak transcription	Brain Substantia Nigra	brain
31	chr1:75166800-75170000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:75166800-75170200	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:75166800-75171800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:75166800-75175200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:75166800-75176600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:75166800-75176600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:75166800-75176600	Weak transcription	Gastric	stomach
38	chr1:75166800-75189200	Weak transcription	Spleen	Spleen
39	chr1:75167000-75170000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr1:75167000-75170800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:75167000-75181000	Weak transcription	Lung	lung
42	chr1:75167000-75197200	Weak transcription	Right Ventricle	heart
43	chr1:75167200-75169000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:75167200-75171200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:75167200-75178000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:75167400-75169000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:75167400-75181800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:75167600-75169200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:75167600-75176800	Weak transcription	NHLF	lung
50	chr1:75167600-75190600	Strong transcription	Liver	Liver

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