Variant report

Variant	rs61827877
Chromosome Location	chr1:173792910-173792911
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr1:173792780-173794469	GM12878	blood:	n/a	n/a
2	CTCF	chr1:173792392-173794738	A549	lung:	n/a	chr1:173793910-173793918
3	POLR2A	chr1:173792873-173794343	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:173792885-173794566	Raji	blood:	n/a	n/a
5	RCOR1	chr1:173792752-173794513	K562	blood:	n/a	n/a
6	RELA	chr1:173792891-173794541	GM15510	blood:	n/a	n/a
7	POLR2A	chr1:173792722-173794591	HUVEC	blood vessel:	n/a	n/a
8	MAX	chr1:173792717-173794549	NB4	blood:	n/a	n/a
9	MTA3	chr1:173792791-173794630	GM12878	blood:	n/a	n/a
10	RCOR1	chr1:173792870-173794489	Hela-S3	cervix:	n/a	n/a
11	MXI1	chr1:173792769-173794573	K562	blood:	n/a	n/a
12	CREB1	chr1:173792833-173794603	K562	blood:	n/a	n/a
13	POLR2A	chr1:173792795-173794494	Hela-S3	cervix:	n/a	n/a
14	GABPA	chr1:173792843-173794526	MCF-7	breast:	n/a	n/a
15	ZNF384	chr1:173792889-173794464	K562	blood:	n/a	n/a
16	BHLHE40	chr1:173792898-173794536	K562	blood:	n/a	n/a
17	POLR2A	chr1:173792849-173794531	IMR90	lung:	n/a	n/a
18	POLR2A	chr1:173792681-173794568	Hela-S3	cervix:	n/a	n/a
19	SMC3	chr1:173792715-173794578	SK-N-SH	brain:	n/a	n/a
20	E2F4	chr1:173792300-173794407	MCF10A-Er-Src	breast:	n/a	chr1:173793924-173793933 chr1:173794046-173794056
21	MXI1	chr1:173792157-173794773	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr1:173792735-173794504	PBDE	blood:	n/a	n/a
23	POLR2A	chr1:173792570-173794914	Hela-S3	cervix:	n/a	n/a
24	HA-E2F1	chr1:173792829-173794999	MCF-7	breast:	n/a	chr1:173793924-173793933 chr1:173794046-173794056
25	SIN3A	chr1:173792737-173794515	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr1:173792792-173794835	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr1:173792835-173794512	Hela-S3	cervix:	n/a	n/a
28	GTF2F1	chr1:173792675-173794480	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr1:173792670-173794915	K562	blood:	n/a	n/a
30	GABPA	chr1:173792809-173794365	SK-N-SH	brain:	n/a	n/a
31	MXI1	chr1:173792865-173794423	Hela-S3	cervix:	n/a	n/a
32	ZNF143	chr1:173792732-173794534	K562	blood:	n/a	n/a
33	REST	chr1:173792864-173794562	A549	lung:	n/a	chr1:173794181-173794190
34	POLR2A	chr1:173792601-173794648	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr1:173792807-173794556	GM12891	blood:	n/a	n/a
36	HCFC1	chr1:173792103-173794705	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr1:173792705-173794611	GM12878	blood:	n/a	n/a
38	MXI1	chr1:173792326-173794868	IMR90	lung:	n/a	n/a
39	POLR2A	chr1:173792825-173794974	SK-N-MC	brain:	n/a	n/a
40	MYC	chr1:173792657-173794586	NB4	blood:	n/a	n/a
41	TEAD4	chr1:173792632-173794568	K562	blood:	n/a	n/a
42	PML	chr1:173792813-173794550	K562	blood:	n/a	n/a
43	POLR2A	chr1:173792857-173794494	GM19099	blood:	n/a	n/a
44	MAX	chr1:173792469-173792919	K562	blood:	n/a	n/a
45	MYC	chr1:173792691-173795105	K562	blood:	n/a	n/a
46	MYC	chr1:173792877-173794538	Hela-S3	cervix:	n/a	n/a
47	KAP1	chr1:173792692-173794349	HEK293	kidney:	n/a	n/a
48	HEY1	chr1:173792666-173794566	K562	blood:	n/a	n/a
49	SIN3AK20	chr1:173792784-173794551	MCF-7	breast:	n/a	n/a
50	CHD1	chr1:173792485-173794486	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173682535..173686916-chr1:173792397..173795534,7	K562	blood:
2	chr1:173443316..173450639-chr1:173791413..173797919,15	K562	blood:
3	chr1:173789792..173811494-chr1:173827886..173840273,103	K562	blood:
4	chr1:173683067..173686676-chr1:173791976..173794755,4	K562	blood:
5	chr1:173792439..173793277-chr6:27806309..27807278,2	Hela-S3	cervix:
6	chr1:173791511..173794568-chr1:174127376..174130126,4	K562	blood:
7	chr1:173443428..173450639-chr1:173791407..173797248,10	K562	blood:
8	chr1:173776652..173778542-chr1:173790947..173793244,2	K562	blood:
9	chr1:173444743..173447866-chr1:173792301..173795321,5	MCF-7	breast:
10	chr1:173637673..173644505-chr1:173792419..173795621,6	K562	blood:
11	chr1:173792463..173795572-chr1:173835250..173839446,8	MCF-7	breast:
12	chr1:173789473..173804179-chr1:173828884..173842109,95	K562	blood:
13	chr1:173791090..173796578-chr1:173835400..173838797,13	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DARS2-2	chr1:173792747-173793058	ucscGeneNc_uc001gkr_1

No data

Variant related genes	Relation type
DARS2	TF binding region
ENSG00000234741	Chromatin interaction
ENSG00000076321	Chromatin interaction
ENSG00000183831	Chromatin interaction
ENSG00000208317	Chromatin interaction
ENSG00000117592	Chromatin interaction
ENSG00000227373	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000252357	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000152061	Chromatin interaction
ENSG00000270084	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10912670	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10912671	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12082131	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12086229	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12561931	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12564699	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12565915	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12566945	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1322774	0.94[ASN][1000 genomes]
rs16846439	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1951625	0.94[ASN][1000 genomes]
rs2067079	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2144708	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2208850	0.94[ASN][1000 genomes]
rs2273366	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2281486	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2295366	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28804123	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3791020	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs45467799	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4558043	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55633896	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55829688	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56019876	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56048122	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56138893	0.87[ASN][1000 genomes]
rs56369162	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56928371	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57799150	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58287165	0.87[ASN][1000 genomes]
rs58825445	0.92[ASN][1000 genomes]
rs59858609	0.87[ASN][1000 genomes]
rs60264384	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61826805	0.87[ASN][1000 genomes]
rs61826806	0.87[ASN][1000 genomes]
rs61826809	0.87[ASN][1000 genomes]
rs61826810	0.87[ASN][1000 genomes]
rs61826812	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61826813	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61826821	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61826856	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61826857	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61827860	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61827861	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61827863	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61827865	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61827867	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61827870	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61827876	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61827881	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61827925	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6413827	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6425253	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6425258	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6425261	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6668702	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6673175	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6674381	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6681766	0.87[ASN][1000 genomes]
rs6691001	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6696680	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7514556	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7515721	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7521884	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7530546	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7546048	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7548171	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552741	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9425416	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9425745	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9425756	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9660881	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61827877	DARS2	cis	Muscle Skeletal	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173788600-173793000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:173789800-173795600	Active TSS	GM12878-XiMat	blood
3	chr1:173791800-173793000	Flanking Active TSS	Hela-S3	cervix
4	chr1:173791800-173794600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:173791800-173794600	Active TSS	NHLF	lung
6	chr1:173791800-173795000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:173792000-173793000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:173792000-173793000	Flanking Active TSS	HSMM	muscle
9	chr1:173792000-173793200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr1:173792000-173795000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:173792200-173793000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:173792200-173793000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr1:173792200-173793000	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr1:173792200-173793000	Flanking Active TSS	HUVEC	blood vessel
15	chr1:173792200-173793000	Flanking Active TSS	NH-A	brain
16	chr1:173792200-173793200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:173792200-173793200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr1:173792200-173793200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:173792200-173793200	Flanking Active TSS	Osteobl	bone
20	chr1:173792200-173793400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:173792200-173793400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr1:173792200-173793600	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr1:173792200-173795000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:173792200-173795000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr1:173792200-173795000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:173792200-173795000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:173792200-173795200	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr1:173792200-173795200	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:173792200-173795400	Active TSS	A549	lung
30	chr1:173792400-173793000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr1:173792400-173793000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr1:173792400-173793000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr1:173792400-173793000	Flanking Active TSS	Fetal Brain Male	brain
34	chr1:173792400-173793000	Flanking Active TSS	Fetal Heart	heart
35	chr1:173792400-173793000	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr1:173792400-173793000	Flanking Active TSS	Fetal Stomach	stomach
37	chr1:173792400-173793000	Flanking Active TSS	Fetal Thymus	thymus
38	chr1:173792400-173793000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
39	chr1:173792400-173793200	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr1:173792400-173793200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:173792400-173793200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr1:173792400-173793200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr1:173792400-173793200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr1:173792400-173793200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr1:173792400-173793200	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr1:173792400-173793200	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr1:173792400-173793400	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr1:173792400-173793400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:173792400-173793400	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr1:173792400-173794600	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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