Variant report

Variant	rs74090732
Chromosome Location	chr1:76208165-76208166
allele	C/T
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	chr1:76208129-76208663	K562	blood:	n/a	n/a
2	POLR2A	chr1:76208080-76208681	K562	blood:	n/a	n/a
3	POLR2A	chr1:76208102-76208599	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:76208138-76209244	K562	blood:	n/a	n/a
5	POLR2A	chr1:76208010-76211534	K562	blood:	n/a	n/a
6	POLR2A	chr1:76208097-76209453	GM12878	blood:	n/a	n/a
7	JUND	chr1:76207897-76208178	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76205678..76212783-chr1:76212896..76217702,9	K562	blood:
2	chr1:76204080..76208296-chr1:76250097..76254787,8	K562	blood:

Variant related genes	Relation type
ACADM	TF binding region
ENSG00000137955	Chromatin interaction
ENSG00000206620	Chromatin interaction
ENSG00000207241	Chromatin interaction
ENSG00000117054	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55923428	1.00[AMR][1000 genomes]
rs59974491	1.00[AMR][1000 genomes]
rs74088910	1.00[AMR][1000 genomes]
rs74088914	1.00[AMR][1000 genomes]
rs74090708	0.92[AFR][1000 genomes]
rs74090710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090745	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090748	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv871572	chr1:76161889-76208488	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76191200-76219600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:76191800-76208200	Weak transcription	Brain Substantia Nigra	brain
3	chr1:76191800-76209400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:76192000-76210200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:76192000-76220400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:76192000-76220600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:76192000-76227800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:76192200-76217800	Weak transcription	Fetal Brain Male	brain
9	chr1:76192200-76222000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:76193600-76220200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:76193800-76208600	Weak transcription	Small Intestine	intestine
12	chr1:76193800-76220200	Weak transcription	Fetal Heart	heart
13	chr1:76195600-76219600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:76195800-76213800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:76196000-76210800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr1:76196000-76222000	Strong transcription	Liver	Liver
17	chr1:76196200-76212600	Strong transcription	Fetal Thymus	thymus
18	chr1:76196400-76210800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:76196400-76213000	Strong transcription	Dnd41	blood
20	chr1:76197600-76209600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr1:76197600-76211400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:76197600-76212000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:76197600-76219400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:76197800-76210600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:76198000-76210400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:76198200-76209800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr1:76198200-76210400	Strong transcription	Adipose Nuclei	Adipose
28	chr1:76198200-76210600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr1:76198400-76210400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:76198600-76210200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:76198600-76210400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr1:76198600-76211600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:76198600-76212000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:76198800-76209400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:76198800-76210600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:76198800-76210800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:76199000-76210200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:76199600-76218600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:76199600-76220400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:76201600-76217800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:76202000-76225000	Weak transcription	Stomach Mucosa	stomach
42	chr1:76202600-76210400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:76203400-76230800	Weak transcription	NHDF-Ad	bronchial
44	chr1:76203600-76208800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:76203800-76211200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr1:76204200-76209600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:76204200-76210600	Strong transcription	Stomach Smooth Muscle	stomach
48	chr1:76204200-76212000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:76204200-76212000	Strong transcription	K562	blood
50	chr1:76204400-76208800	Strong transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links