Variant report

Variant	rs6685252
Chromosome Location	chr1:150259945-150259946
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150258806..150260952-chr1:150544503..150546807,2	K562	blood:
2	chr1:150247383..150251206-chr1:150256020..150261990,7	K562	blood:
3	chr1:150259336..150261005-chr1:150276218..150278287,2	MCF-7	breast:
4	chr1:150259196..150261475-chr1:150334804..150336896,2	MCF-7	breast:
5	chr1:150205825..150209635-chr1:150259375..150267858,10	K562	blood:

Variant related genes	Relation type
ENSG00000163125	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000222222	Chromatin interaction

Extended variants
information (count: 167 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs10157197	0.94[EUR][1000 genomes]
rs10888578	1.00[EUR][1000 genomes]
rs10888579	0.99[EUR][1000 genomes]
rs1097066	0.90[EUR][1000 genomes]
rs1097067	0.81[ASN][1000 genomes]
rs1097068	0.81[ASN][1000 genomes]
rs1097069	0.89[EUR][1000 genomes]
rs1097070	0.81[ASN][1000 genomes]
rs1097071	0.84[EUR][1000 genomes]
rs1103115	0.84[ASN][1000 genomes]
rs11205355	0.94[EUR][1000 genomes]
rs11205357	0.96[ASN][1000 genomes]
rs11205359	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11205373	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1122967	0.99[ASN][1000 genomes]
rs1145583	0.84[ASN][1000 genomes]
rs11577843	0.80[ASN][1000 genomes]
rs11587758	0.84[ASN][1000 genomes]
rs11590406	0.80[EUR][1000 genomes]
rs11590787	0.80[ASN][1000 genomes]
rs11811885	0.95[EUR][1000 genomes]
rs12045304	0.80[ASN][1000 genomes]
rs12093148	0.94[EUR][1000 genomes]
rs1260367	0.84[ASN][1000 genomes]
rs1260368	0.84[ASN][1000 genomes]
rs1260373	0.86[EUR][1000 genomes]
rs1260385	0.92[EUR][1000 genomes]
rs1260386	0.80[ASN][1000 genomes]
rs1260388	0.80[ASN][1000 genomes]
rs1260389	0.80[ASN][1000 genomes]
rs1260391	0.81[EUR][1000 genomes]
rs1260396	0.94[ASN][1000 genomes]
rs1260398	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1260400	0.83[ASN][1000 genomes]
rs1260401	0.90[EUR][1000 genomes]
rs1260403	0.92[EUR][1000 genomes]
rs1260404	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1260405	0.85[ASN][1000 genomes]
rs1260406	0.85[ASN][1000 genomes]
rs1260407	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1260408	0.92[EUR][1000 genomes]
rs1260409	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1260411	0.80[ASN][1000 genomes]
rs1260421	0.80[ASN][1000 genomes]
rs1260424	0.81[EUR][1000 genomes]
rs1260457	0.85[EUR][1000 genomes]
rs1260458	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1260459	0.84[ASN][1000 genomes]
rs1262432	0.81[EUR][1000 genomes]
rs12739706	1.00[EUR][1000 genomes]
rs12747669	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1313568	0.87[EUR][1000 genomes]
rs1313569	0.87[EUR][1000 genomes]
rs1313570	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1498308	0.86[ASN][1000 genomes]
rs1614039	0.89[ASN][1000 genomes]
rs1625468	0.84[ASN][1000 genomes]
rs1627235	0.80[ASN][1000 genomes]
rs1694362	0.80[ASN][1000 genomes]
rs1694364	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1694369	0.84[ASN][1000 genomes]
rs1694370	0.93[ASN][1000 genomes]
rs1694375	0.91[ASN][1000 genomes]
rs1694377	0.88[ASN][1000 genomes]
rs1694379	0.92[EUR][1000 genomes]
rs1694380	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1694381	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1694385	0.80[ASN][1000 genomes]
rs1694390	0.80[ASN][1000 genomes]
rs1747927	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1776265	0.87[EUR][1000 genomes]
rs1776272	0.92[EUR][1000 genomes]
rs1776273	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1776274	0.96[ASN][1000 genomes]
rs1776275	0.95[EUR][1000 genomes]
rs1776276	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1932934	0.83[AMR][1000 genomes]
rs2133129	0.84[EUR][1000 genomes]
rs2147324	0.96[ASN][1000 genomes]
rs2264417	0.81[EUR][1000 genomes]
rs2264418	0.80[ASN][1000 genomes]
rs2274127	0.96[ASN][1000 genomes]
rs2318761	0.85[ASN][1000 genomes]
rs2454285	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2454286	0.81[ASN][1000 genomes]
rs2477121	0.82[ASN][1000 genomes]
rs2762860	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2794615	0.80[ASN][1000 genomes]
rs2794678	0.84[ASN][1000 genomes]
rs2794679	0.84[ASN][1000 genomes]
rs2794680	0.82[EUR][1000 genomes]
rs2794681	0.84[ASN][1000 genomes]
rs2794682	0.82[ASN][1000 genomes]
rs2794684	0.83[ASN][1000 genomes]
rs2794685	0.85[ASN][1000 genomes]
rs2797653	0.84[ASN][1000 genomes]
rs3125808	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35057759	0.80[ASN][1000 genomes]
rs35915849	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3818978	0.95[EUR][1000 genomes]
rs4333886	0.88[ASN][1000 genomes]
rs4446975	0.83[AMR][1000 genomes]
rs4451552	0.83[AMR][1000 genomes]
rs4581308	0.94[ASN][1000 genomes]
rs471464	0.93[ASN][1000 genomes]
rs471738	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs486275	0.90[ASN][1000 genomes]
rs488271	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4926394	0.82[ASN][1000 genomes]
rs4926395	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4926419	0.82[ASN][1000 genomes]
rs4926422	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs494041	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs494952	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4970971	0.82[AMR][1000 genomes]
rs497128	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs500812	0.89[ASN][1000 genomes]
rs509345	0.95[ASN][1000 genomes]
rs519126	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs521607	0.90[ASN][1000 genomes]
rs522435	0.86[ASN][1000 genomes]
rs543179	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55742549	0.80[ASN][1000 genomes]
rs56214461	0.88[ASN][1000 genomes]
rs573351	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs578353	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs580060	0.94[ASN][1000 genomes]
rs580159	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6693697	0.88[EUR][1000 genomes]
rs696615	0.88[EUR][1000 genomes]
rs696616	0.83[ASN][1000 genomes]
rs698914	0.92[EUR][1000 genomes]
rs698916	0.80[ASN][1000 genomes]
rs698917	0.91[EUR][1000 genomes]
rs698918	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs698919	0.80[ASN][1000 genomes]
rs7512552	0.99[ASN][1000 genomes]
rs7517441	0.88[ASN][1000 genomes]
rs7544900	0.98[EUR][1000 genomes]
rs7554686	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8006	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs828784	0.87[EUR][1000 genomes]
rs832621	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs832622	0.80[ASN][1000 genomes]
rs834225	0.92[EUR][1000 genomes]
rs834229	0.80[ASN][1000 genomes]
rs834230	0.80[ASN][1000 genomes]
rs834231	0.80[ASN][1000 genomes]
rs834232	0.81[ASN][1000 genomes]
rs834234	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs834235	0.81[EUR][1000 genomes]
rs834236	0.80[ASN][1000 genomes]
rs834237	0.80[EUR][1000 genomes]
rs834238	0.82[EUR][1000 genomes]
rs834241	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs834242	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs834243	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs844309	0.80[ASN][1000 genomes]
rs863862	0.84[EUR][1000 genomes]
rs9126	1.00[EUR][1000 genomes]
rs9435997	0.88[ASN][1000 genomes]
rs9436112	0.80[ASN][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	nsv1009508	chr1:150211112-150270830	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv535154	chr1:150214907-150265508	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6685252	MRPS21	cis	Heart Left Ventricle	GTEx

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150254400-150260600	Weak transcription	K562	blood
2	chr1:150254600-150266200	Weak transcription	Small Intestine	intestine
3	chr1:150255400-150265400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:150255400-150265800	Weak transcription	HSMMtube	muscle
5	chr1:150255400-150266200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:150255600-150265800	Weak transcription	Aorta	Aorta
7	chr1:150255800-150265400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:150255800-150266000	Weak transcription	Gastric	stomach
9	chr1:150256000-150265400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:150256000-150265400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:150256000-150265400	Weak transcription	Fetal Lung	lung
12	chr1:150256000-150265400	Weak transcription	Psoas Muscle	Psoas
13	chr1:150256000-150265400	Weak transcription	Right Ventricle	heart
14	chr1:150256000-150265400	Weak transcription	NHEK	skin
15	chr1:150256000-150265600	Weak transcription	NH-A	brain
16	chr1:150256000-150265800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:150256000-150265800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:150256000-150266000	Weak transcription	Pancreas	Pancrea
19	chr1:150256200-150265200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:150256200-150265400	Weak transcription	Brain Germinal Matrix	brain
21	chr1:150256200-150265400	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:150256200-150265400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:150256200-150265600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:150256200-150265600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:150256200-150265800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:150256200-150265800	Weak transcription	Fetal Intestine Small	intestine
27	chr1:150256200-150265800	Weak transcription	HMEC	breast
28	chr1:150256200-150266000	Weak transcription	Lung	lung
29	chr1:150256200-150266000	Weak transcription	Spleen	Spleen
30	chr1:150256400-150260200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:150256400-150265400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:150256400-150265600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:150256800-150260200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:150256800-150260400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:150256800-150260800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:150257000-150260400	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:150257000-150260400	Strong transcription	Left Ventricle	heart
38	chr1:150257000-150265400	Weak transcription	Fetal Heart	heart
39	chr1:150257200-150261600	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:150257200-150265600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:150257400-150265600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:150257600-150261600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr1:150257600-150265600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:150258000-150260200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:150258400-150261000	Strong transcription	Liver	Liver
46	chr1:150258400-150261200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:150258400-150261600	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:150258400-150266000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:150258600-150260200	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr1:150258600-150260200	Strong transcription	Brain Hippocampus Middle	brain

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