Variant report

Variant	rs1694375
Chromosome Location	chr1:150278908-150278909
allele	C/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150274327..150277106-chr1:150277953..150280795,3	MCF-7	breast:
2	chr1:150253722..150255398-chr1:150277139..150279964,2	MCF-7	breast:
3	chr1:150207006..150210837-chr1:150278818..150282329,4	K562	blood:
4	chr1:150278389..150282847-chr1:150283381..150286594,4	K562	blood:
5	chr1:150273449..150279043-chr1:150279801..150282340,7	MCF-7	breast:
6	chr1:150277809..150280750-chr1:150280887..150284512,5	MCF-7	breast:
7	chr1:150277059..150279292-chr1:150282914..150285581,2	MCF-7	breast:
8	chr1:150265474..150267107-chr1:150276871..150279433,3	K562	blood:
9	chr1:150270358..150272850-chr1:150276338..150279284,2	K562	blood:
10	chr1:150274446..150278949-chr1:150292354..150296326,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143401	Chromatin interaction
ENSG00000117360	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000187145	Chromatin interaction
ENSG00000159208	Chromatin interaction

Extended variants
information (count: 161 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:156)

rs_ID	r²[population]
rs1097067	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1097068	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1097070	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1103115	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11205357	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11205359	0.95[ASN][1000 genomes]
rs11205373	0.81[ASN][1000 genomes]
rs1122967	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1145583	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11577600	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11577843	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11581351	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11587116	0.80[EUR][1000 genomes]
rs11587575	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11587758	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11590324	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11590787	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12028001	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12040949	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12042229	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12042579	0.82[AMR][1000 genomes]
rs12045304	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12046446	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1260367	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1260368	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1260378	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1260386	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1260388	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1260389	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1260394	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1260396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1260398	0.95[ASN][1000 genomes]
rs1260400	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1260404	0.86[ASN][1000 genomes]
rs1260405	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1260406	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1260407	0.86[ASN][1000 genomes]
rs1260409	0.84[ASN][1000 genomes]
rs1260411	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1260421	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1260422	0.91[EUR][1000 genomes]
rs1260458	0.85[ASN][1000 genomes]
rs1260459	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12747669	0.85[ASN][1000 genomes]
rs1313570	0.85[ASN][1000 genomes]
rs1498308	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1614039	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1617829	0.86[EUR][1000 genomes]
rs1625468	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1627235	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1631973	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1694362	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1694364	0.85[ASN][1000 genomes]
rs1694369	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1694370	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1694377	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1694380	0.89[ASN][1000 genomes]
rs1694381	0.90[ASN][1000 genomes]
rs1694385	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1747927	0.89[ASN][1000 genomes]
rs17596326	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1776273	0.93[ASN][1000 genomes]
rs1776274	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1776276	0.87[ASN][1000 genomes]
rs1972031	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2147324	0.89[ASN][1000 genomes]
rs2264418	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2274127	0.89[ASN][1000 genomes]
rs2454285	0.88[ASN][1000 genomes]
rs2454286	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2477121	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2762860	0.89[ASN][1000 genomes]
rs2794614	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2794615	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2794678	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2794679	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2794681	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2794682	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2794684	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2794685	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2797653	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2867893	0.81[EUR][1000 genomes]
rs2867894	0.81[EUR][1000 genomes]
rs2873669	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3125808	0.86[ASN][1000 genomes]
rs35057759	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35915849	0.84[ASN][1000 genomes]
rs3820544	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3896342	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4333886	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4581308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs471464	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs471738	0.95[ASN][1000 genomes]
rs486275	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs488271	0.89[ASN][1000 genomes]
rs4926394	0.81[ASN][1000 genomes]
rs4926395	0.81[ASN][1000 genomes]
rs4926422	0.86[ASN][1000 genomes]
rs4926436	0.82[EUR][1000 genomes]
rs4926437	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs494041	0.83[ASN][1000 genomes]
rs494952	0.86[ASN][1000 genomes]
rs497128	0.90[ASN][1000 genomes]
rs500812	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs509345	0.96[ASN][1000 genomes]
rs519126	0.88[ASN][1000 genomes]
rs521607	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs522435	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs543179	0.93[ASN][1000 genomes]
rs55742549	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55823828	0.80[EUR][1000 genomes]
rs55928222	0.81[AMR][1000 genomes]
rs56214461	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs578353	0.89[ASN][1000 genomes]
rs580060	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs580159	0.95[ASN][1000 genomes]
rs6662108	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6672808	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6685252	0.91[ASN][1000 genomes]
rs6703652	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs696616	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs698916	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs698918	0.83[ASN][1000 genomes]
rs698919	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs698923	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7002	0.82[AMR][1000 genomes]
rs72696885	0.82[EUR][1000 genomes]
rs72696900	0.82[EUR][1000 genomes]
rs7512552	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7513205	0.80[AMR][1000 genomes]
rs7517441	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7523428	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7539458	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7553867	0.82[AMR][1000 genomes]
rs7554686	0.90[ASN][1000 genomes]
rs8006	0.95[ASN][1000 genomes]
rs828783	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs832621	0.81[ASN][1000 genomes]
rs832622	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs834229	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs834230	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs834231	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs834232	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs834233	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs834234	0.83[ASN][1000 genomes]
rs834236	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs834241	0.81[ASN][1000 genomes]
rs834242	0.81[ASN][1000 genomes]
rs834243	0.83[ASN][1000 genomes]
rs844309	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9435997	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9436007	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9436008	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9436108	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9436112	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9436115	0.81[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	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers 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	164 gene(s)	inside rSNPs	diseases
3	nsv1011223	chr1:150229205-150279380	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv3330234	chr1:150278729-150279516	Strong transcription Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
5	esv3383357	chr1:150278845-150279132	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1694375	MRPS21	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150267000-150280000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:150267000-150280000	Weak transcription	Small Intestine	intestine
3	chr1:150267000-150284000	Weak transcription	Brain Substantia Nigra	brain
4	chr1:150267000-150293200	Weak transcription	Stomach Mucosa	stomach
5	chr1:150267200-150280000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:150267200-150280000	Weak transcription	Esophagus	oesophagus
7	chr1:150267200-150286400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:150267800-150280800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:150267800-150281400	Strong transcription	Liver	Liver
10	chr1:150267800-150282000	Strong transcription	Fetal Muscle Trunk	muscle
11	chr1:150268000-150281000	Strong transcription	Fetal Muscle Leg	muscle
12	chr1:150268000-150281400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:150268000-150282600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:150268000-150293200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:150268200-150279800	Weak transcription	Pancreas	Pancrea
16	chr1:150268200-150282600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:150268200-150282600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:150268200-150282800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:150268200-150282800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:150268200-150282800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:150268600-150281000	Weak transcription	Fetal Brain Male	brain
22	chr1:150269000-150281400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:150269000-150282800	Strong transcription	Fetal Thymus	thymus
24	chr1:150269400-150282800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:150271600-150284000	Weak transcription	Colonic Mucosa	Colon
26	chr1:150272600-150282800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:150273600-150280800	Strong transcription	Thymus	Thymus
28	chr1:150274000-150282800	Strong transcription	Fetal Brain Female	brain
29	chr1:150274400-150281000	Strong transcription	Primary T cells from cord blood	blood
30	chr1:150274800-150279800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:150274800-150282800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:150274800-150284600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:150275000-150280000	Weak transcription	Ovary	ovary
34	chr1:150275000-150280000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:150275000-150280200	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:150275000-150286400	Weak transcription	HepG2	liver
37	chr1:150275200-150279600	Weak transcription	Lung	lung
38	chr1:150275200-150279800	Weak transcription	Left Ventricle	heart
39	chr1:150275200-150280000	Weak transcription	Gastric	stomach
40	chr1:150275200-150280000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:150275200-150280400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:150275200-150281600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:150275200-150282800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:150275400-150279200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr1:150275400-150279800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:150275400-150280000	Weak transcription	HSMMtube	muscle
47	chr1:150275400-150280200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:150275400-150280400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:150275400-150280600	Weak transcription	Brain Angular Gyrus	brain
50	chr1:150275400-150282600	Weak transcription	Right Ventricle	heart

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