Variant report

Variant	rs34940574
Chromosome Location	chr9:97530508-97530509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97525737..97528052-chr9:97529535..97531764,2	K562	blood:
2	chr9:97529861..97533578-chr9:97534032..97536715,3	K562	blood:
3	chr9:97529221..97532775-chr9:97533309..97537011,4	K562	blood:
4	chr9:97529158..97531102-chr9:97866148..97868747,2	MCF-7	breast:
5	chr9:97524321..97526027-chr9:97528891..97531029,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10121865	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10122127	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10217427	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10732405	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10732406	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10733755	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10739986	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10761355	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10761359	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10821405	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10993348	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1228614	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12339275	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12340251	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12344537	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12352276	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12553690	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12684703	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13285343	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16911661	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1810772	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs181488	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs187163	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193292	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2119954	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2165716	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2304884	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2406899	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs242259	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2584803	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2584804	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2767403	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2767404	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28647286	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs356122	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs356123	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs356124	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs356126	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs356127	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs356129	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs356130	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs356134	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356135	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs356137	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356138	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356140	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356142	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs356143	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356146	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs374708	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs376902	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs380205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384039	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3858087	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3858088	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs389365	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs396538	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs397617	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs400231	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405110	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs415016	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs418764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs439052	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4437717	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4537361	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs471161	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744377	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4744379	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4744380	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4744383	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55795862	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55914113	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55926255	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57504746	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58042095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479565	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6479570	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6479571	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6479572	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6479574	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs672012	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67625382	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7025234	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7028317	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7030617	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7031172	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7031518	0.86[AMR][1000 genomes]
rs7037652	0.84[AFR][1000 genomes]
rs7041982	0.87[EUR][1000 genomes]
rs7045387	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7047864	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs732141	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7853126	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7861358	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7862700	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs913182	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9409806	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1041922	chr9:97444976-97536753	Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34940574	hCG_2003663	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97506200-97533400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:97509200-97536000	Weak transcription	Pancreas	Pancrea
3	chr9:97512600-97540800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr9:97512600-97544600	Weak transcription	Psoas Muscle	Psoas
5	chr9:97519800-97531200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:97519800-97544600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:97520400-97531800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr9:97520600-97530600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:97520800-97531200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr9:97521800-97541200	Weak transcription	Right Ventricle	heart
11	chr9:97522400-97540400	Weak transcription	Fetal Heart	heart
12	chr9:97522800-97532600	Weak transcription	K562	blood
13	chr9:97522800-97534600	Weak transcription	Fetal Brain Male	brain
14	chr9:97522800-97534600	Weak transcription	NHLF	lung
15	chr9:97523000-97534600	Weak transcription	Ovary	ovary
16	chr9:97523200-97532600	Weak transcription	Brain Hippocampus Middle	brain
17	chr9:97523200-97535000	Weak transcription	Colon Smooth Muscle	Colon
18	chr9:97523400-97530800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr9:97523400-97530800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr9:97523400-97531200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr9:97523400-97532000	Weak transcription	Adipose Nuclei	Adipose
22	chr9:97523400-97532000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr9:97523400-97532000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr9:97523400-97533000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr9:97523400-97533400	Weak transcription	Brain Substantia Nigra	brain
26	chr9:97523400-97533600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr9:97523400-97534400	Weak transcription	Osteobl	bone
28	chr9:97523400-97534600	Weak transcription	Right Atrium	heart
29	chr9:97523400-97535600	Weak transcription	Aorta	Aorta
30	chr9:97523400-97535800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr9:97523400-97541400	Weak transcription	NHEK	skin
32	chr9:97523400-97544400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:97523400-97544400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:97523400-97545200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:97523400-97545200	Weak transcription	Liver	Liver
36	chr9:97523400-97545200	Weak transcription	Lung	lung
37	chr9:97523400-97545400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr9:97523400-97552600	Weak transcription	Dnd41	blood
39	chr9:97523400-97554000	Weak transcription	Primary T cells from cord blood	blood
40	chr9:97523400-97557800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr9:97523400-97563800	Weak transcription	Fetal Kidney	kidney
42	chr9:97523600-97530800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr9:97523600-97530800	Weak transcription	Fetal Lung	lung
44	chr9:97523600-97532200	Weak transcription	Fetal Intestine Small	intestine
45	chr9:97523600-97533600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:97523600-97534600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr9:97523600-97534600	Weak transcription	HSMM	muscle
48	chr9:97523600-97534600	Weak transcription	HSMMtube	muscle
49	chr9:97523600-97535200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr9:97523600-97535200	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links