Variant report

Variant	rs6678812
Chromosome Location	chr1:176063871-176063872
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:176059320..176060876-chr1:176061797..176063897,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10218714	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10458350	0.86[JPT][hapmap]
rs10494495	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs10753112	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs10753117	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10753118	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10798425	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10798428	0.88[YRI][hapmap]
rs10798434	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs10798442	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10798444	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10798445	0.86[JPT][hapmap]
rs10798446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10798447	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10913117	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10913118	0.82[JPT][hapmap]
rs10913120	0.81[AMR][1000 genomes]
rs10913124	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10913128	1.00[GIH][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs10913131	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10913132	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10913133	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913134	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913135	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10913142	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10913143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10913144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10913145	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10913147	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10913148	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11810706	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs12029090	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs12033847	0.88[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12033997	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12034255	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12039741	0.80[EUR][1000 genomes]
rs12040241	1.00[GIH][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap]
rs12042918	0.80[EUR][1000 genomes]
rs12047295	0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs12049077	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12138008	0.80[JPT][hapmap]
rs12404596	0.88[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12409108	0.80[EUR][1000 genomes]
rs12723724	0.82[JPT][hapmap]
rs12729524	0.82[JPT][hapmap]
rs12735810	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12755507	0.80[EUR][1000 genomes]
rs16849486	0.82[JPT][hapmap]
rs17354120	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs184764	0.86[CHD][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap]
rs2039230	0.86[JPT][hapmap]
rs2175177	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2457418	0.86[JPT][hapmap]
rs2481628	0.86[JPT][hapmap]
rs2481630	0.86[JPT][hapmap]
rs2481631	0.86[JPT][hapmap]
rs2481633	0.86[JPT][hapmap]
rs2481641	0.83[ASW][hapmap]
rs2481655	0.82[JPT][hapmap]
rs2487144	0.86[JPT][hapmap]
rs2502823	0.82[JPT][hapmap]
rs2502831	0.86[JPT][hapmap]
rs2502834	0.83[ASW][hapmap];0.88[YRI][hapmap]
rs2502835	0.88[YRI][hapmap]
rs2502845	0.91[JPT][hapmap]
rs2861672	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34215167	0.81[EUR][1000 genomes]
rs34511428	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs352330	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs352334	0.86[JPT][hapmap]
rs3748618	1.00[GIH][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs4409605	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs4526571	0.97[GIH][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap]
rs520661	0.86[JPT][hapmap]
rs617078	0.86[JPT][hapmap]
rs6665385	0.86[JPT][hapmap]
rs6673760	0.82[EUR][1000 genomes]
rs6678628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6684140	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6687043	0.81[YRI][hapmap]
rs6697860	0.85[JPT][hapmap]
rs704829	0.86[JPT][hapmap]
rs7514517	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7515914	0.81[AMR][1000 genomes]
rs7517503	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7522843	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7534058	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7534948	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7539247	0.83[ASW][hapmap]
rs7549160	0.82[JPT][hapmap]
rs7553759	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs791743	0.86[JPT][hapmap]
rs791751	0.86[JPT][hapmap]
rs791753	0.85[JPT][hapmap]
rs813180	0.86[JPT][hapmap]
rs9425447	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv872564	chr1:176027978-176102808	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv548246	chr1:176043797-176136273	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv872565	chr1:176058782-176172795	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6678812	DARS2	cis	parietal	SCAN
rs6678812	PIGC	cis	cerebellum	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:175994200-176065200	Weak transcription	Psoas Muscle	Psoas
3	chr1:176007800-176066400	Weak transcription	Fetal Brain Male	brain
4	chr1:176010400-176066000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:176012400-176065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:176028200-176079200	Weak transcription	HSMMtube	muscle
7	chr1:176035000-176069800	Weak transcription	NHEK	skin
8	chr1:176035200-176067600	Weak transcription	Colonic Mucosa	Colon
9	chr1:176035400-176066400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:176035400-176067200	Weak transcription	HUVEC	blood vessel
11	chr1:176037200-176064600	Weak transcription	Gastric	stomach
12	chr1:176037200-176067200	Weak transcription	Small Intestine	intestine
13	chr1:176037200-176067400	Weak transcription	Osteobl	bone
14	chr1:176038600-176068800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:176039200-176068800	Weak transcription	HMEC	breast
16	chr1:176040600-176065400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:176042800-176067200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:176043000-176065400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:176045200-176064600	Weak transcription	Fetal Stomach	stomach
20	chr1:176045800-176066000	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:176046600-176082200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:176048400-176064400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:176048400-176067600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:176048600-176064800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:176048600-176065600	Weak transcription	A549	lung
26	chr1:176048600-176066400	Weak transcription	Fetal Kidney	kidney
27	chr1:176048800-176064400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:176048800-176064600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:176048800-176065200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:176048800-176065200	Weak transcription	Brain Germinal Matrix	brain
31	chr1:176048800-176065400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:176048800-176066400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:176048800-176107000	Weak transcription	HepG2	liver
34	chr1:176049200-176065200	Weak transcription	Left Ventricle	heart
35	chr1:176049200-176065400	Weak transcription	Thymus	Thymus
36	chr1:176049200-176067200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:176050000-176065200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:176050000-176066000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr1:176050200-176064400	Weak transcription	Fetal Intestine Large	intestine
40	chr1:176050200-176065800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:176050400-176064400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:176050400-176065200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:176050400-176065400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr1:176050400-176066400	Weak transcription	K562	blood
45	chr1:176050400-176066600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr1:176050400-176067200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:176050400-176067200	Weak transcription	HSMM	muscle
48	chr1:176050400-176067200	Weak transcription	NHDF-Ad	bronchial
49	chr1:176051400-176065200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:176052800-176068400	Weak transcription	Placenta Amnion	Placenta Amnion

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