Variant report

Variant	rs3765872
Chromosome Location	chr1:210546462-210546463
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:62)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:210545931..210548726-chr1:211432289..211435093,3	K562	blood:
2	chr1:210546417..210547397-chr12:6643375..6644262,2	Hela-S3	cervix:
3	chr1:210546264..210548680-chr1:212458394..212460879,2	K562	blood:
4	chr1:210436042..210438392-chr1:210545495..210547310,2	MCF-7	breast:
5	chr1:210544824..210547229-chr1:211442080..211443872,2	MCF-7	breast:
6	chr1:210313790..210315610-chr1:210545202..210547564,2	MCF-7	breast:
7	chr1:210398543..210400945-chr1:210545064..210546589,2	MCF-7	breast:
8	chr1:209999396..210002885-chr1:210546190..210548808,3	K562	blood:
9	chr1:210545478..210547549-chr1:210653820..210655995,2	MCF-7	breast:
10	chr1:210490176..210493022-chr1:210545153..210547397,2	MCF-7	breast:
11	chr1:210544521..210546591-chr1:210638749..210641083,2	MCF-7	breast:
12	chr1:210545831..210547443-chr1:210928453..210930887,2	K562	blood:
13	chr1:210515744..210518979-chr1:210543495..210546980,6	MCF-7	breast:
14	chr1:210404317..210408653-chr1:210545033..210548956,7	MCF-7	breast:
15	chr1:210545122..210547280-chr6:147523664..147525996,2	MCF-7	breast:
16	chr1:210507666..210509185-chr1:210544878..210546566,2	MCF-7	breast:
17	chr1:210545315..210547510-chr4:83350545..83352371,2	MCF-7	breast:
18	chr1:210546445..210547309-chr2:111878092..111878827,2	Hela-S3	cervix:
19	chr1:209946963..209949501-chr1:210545658..210547177,2	K562	blood:
20	chr1:210545822..210547422-chr15:40202816..40204989,2	MCF-7	breast:
21	chr1:210498648..210506320-chr1:210545155..210548300,7	K562	blood:
22	chr1:210503754..210505570-chr1:210544608..210547185,2	MCF-7	breast:
23	chr1:210546248..210548847-chr6:26026760..26029454,2	K562	blood:
24	chr1:210291718..210293860-chr1:210544632..210547105,2	K562	blood:
25	chr1:210544901..210547632-chr20:52822765..52825018,2	MCF-7	breast:
26	chr1:210546314..210547111-chr14:23790612..23791160,2	Hela-S3	cervix:
27	chr1:152021342..152023033-chr1:210545433..210547102,2	MCF-7	breast:
28	chr1:210546241..210548615-chr8:134583124..134585653,3	MCF-7	breast:
29	chr1:210545562..210548349-chr17:56736330..56737949,2	MCF-7	breast:
30	chr1:210544365..210549030-chr17:57921951..57926330,6	MCF-7	breast:
31	chr1:210544529..210547501-chr1:210632539..210635313,2	MCF-7	breast:
32	chr1:209955222..209958022-chr1:210545930..210547914,2	K562	blood:
33	chr1:210498783..210502429-chr1:210544443..210548917,7	MCF-7	breast:
34	chr1:210487345..210489523-chr1:210545769..210547344,2	MCF-7	breast:
35	chr1:210545161..210548943-chr1:211431162..211434734,10	MCF-7	breast:
36	chr1:210544820..210547097-chr1:210624472..210626435,2	MCF-7	breast:
37	chr1:209979052..209983681-chr1:210545344..210549112,5	K562	blood:
38	chr1:210545987..210547496-chr1:211322410..211325029,2	K562	blood:
39	chr1:210372005..210373538-chr1:210545474..210547573,2	MCF-7	breast:
40	chr1:210411288..210415532-chr1:210545845..210548643,6	MCF-7	breast:
41	chr1:210497683..210507034-chr1:210544536..210549319,22	MCF-7	breast:
42	chr1:210520007..210522268-chr1:210544999..210547246,3	MCF-7	breast:
43	chr1:210356850..210358430-chr1:210545315..210547010,2	K562	blood:
44	chr1:210526700..210528445-chr1:210544718..210547460,3	K562	blood:
45	chr1:210545222..210547318-chr14:77500403..77503053,2	MCF-7	breast:
46	chr1:210546303..210547838-chr17:48942332..48944637,2	MCF-7	breast:
47	chr1:209955222..209959394-chr1:210545816..210547914,4	K562	blood:
48	chr1:210545548..210547811-chr19:1249868..1252698,2	MCF-7	breast:
49	chr1:210427213..210429182-chr1:210545289..210547271,2	K562	blood:
50	chr1:145542239..145543081-chr1:210546445..210547211,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000261220	Chromatin interaction
ENSG00000152795	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000229980	Chromatin interaction
ENSG00000164506	Chromatin interaction
ENSG00000203706	Chromatin interaction
ENSG00000145293	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000117595	Chromatin interaction
ENSG00000117625	Chromatin interaction
ENSG00000008513	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000162757	Chromatin interaction
ENSG00000082497	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000054392	Chromatin interaction
ENSG00000117597	Chromatin interaction
ENSG00000100836	Chromatin interaction
ENSG00000233455	Chromatin interaction
ENSG00000101132	Chromatin interaction
ENSG00000167470	Chromatin interaction
ENSG00000009790	Chromatin interaction
ENSG00000153094	Chromatin interaction
ENSG00000233452	Chromatin interaction
ENSG00000111640	Chromatin interaction
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10489388	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12140650	0.83[ASN][1000 genomes]
rs12729428	1.00[ASN][1000 genomes]
rs17016026	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17759021	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2357583	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3765879	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3765884	0.85[ASN][1000 genomes]
rs60935759	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61828656	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6540589	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6656628	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669428	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6672972	0.80[ASN][1000 genomes]
rs6690120	0.80[AMR][1000 genomes]
rs7354957	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7355019	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7355031	0.83[ASN][1000 genomes]
rs742560	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7527939	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7530104	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7550408	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7550554	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs761171	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210503600-210546800	Weak transcription	Fetal Intestine Small	intestine
2	chr1:210529600-210586000	Weak transcription	Pancreas	Pancrea
3	chr1:210534600-210546800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:210536800-210551000	Weak transcription	Right Ventricle	heart
5	chr1:210536800-210558800	Weak transcription	Fetal Stomach	stomach
6	chr1:210537000-210550600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:210538400-210547000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:210538400-210565600	Weak transcription	Esophagus	oesophagus
9	chr1:210538600-210546800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:210540800-210549600	Weak transcription	HSMMtube	muscle
11	chr1:210541000-210550000	Weak transcription	Brain Anterior Caudate	brain
12	chr1:210541200-210546800	Enhancers	HepG2	liver
13	chr1:210543200-210546800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:210543200-210548000	Weak transcription	HSMM	muscle
15	chr1:210543200-210549800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:210543200-210555800	Weak transcription	Right Atrium	heart
17	chr1:210543200-210565200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:210543400-210551000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:210544600-210546800	Enhancers	Liver	Liver
20	chr1:210544800-210546600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:210545000-210546600	Enhancers	A549	lung
22	chr1:210545200-210546800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:210545200-210546800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:210545200-210547200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:210545200-210547200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr1:210545200-210548200	Enhancers	Hela-S3	cervix
27	chr1:210545400-210547000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:210545400-210547200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr1:210545400-210547400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:210545400-210547600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:210545400-210548600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:210545600-210546800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr1:210545800-210546600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:210545800-210546800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr1:210545800-210547000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:210545800-210547200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:210545800-210548800	Enhancers	NHDF-Ad	bronchial
38	chr1:210546000-210546600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:210546000-210546800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr1:210546000-210546800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:210546000-210547600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:210546000-210548000	Weak transcription	HMEC	breast
43	chr1:210546000-210550200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr1:210546200-210546800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:210546400-210546800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:210546400-210547000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:210546400-210547200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:210546400-210549200	Enhancers	Osteobl	bone

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