Variant report

Variant	rs6547621
Chromosome Location	chr2:85774676-85774677
allele	A/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:45)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:85560693..85562744-chr2:85773489..85775783,2	MCF-7	breast:
2	chr2:85724612..85727144-chr2:85772474..85775148,2	K562	blood:
3	chr2:85773227..85776043-chr2:85840997..85843582,3	K562	blood:
4	chr2:85636530..85638430-chr2:85773977..85775936,2	MCF-7	breast:
5	chr2:85771530..85776249-chr2:85829549..85833813,5	K562	blood:
6	chr2:85705123..85709274-chr2:85772334..85776338,4	K562	blood:
7	chr2:85645994..85650779-chr2:85769890..85775374,14	MCF-7	breast:
8	chr2:85773887..85776884-chr2:85959651..85962440,2	K562	blood:
9	chr2:85773905..85775498-chr2:85841820..85843582,2	K562	blood:
10	chr2:85772535..85775782-chr2:85811298..85814836,3	MCF-7	breast:
11	chr2:85772605..85778348-chr2:85801967..85806164,7	K562	blood:
12	chr2:85634947..85636542-chr2:85773965..85775695,2	MCF-7	breast:
13	chr2:85188073..85190194-chr2:85773942..85775727,2	K562	blood:
14	chr2:85771408..85781005-chr2:85784986..85791406,15	MCF-7	breast:
15	chr2:85695182..85700475-chr2:85771258..85775492,7	K562	blood:
16	chr2:85772489..85775609-chr2:85830243..85835549,6	MCF-7	breast:
17	chr2:85557851..85560979-chr2:85771995..85775523,3	K562	blood:
18	chr2:85635544..85709381-chr2:85757395..85791508,633	K562	blood:
19	chr2:85773637..85776007-chr2:85816213..85818634,2	K562	blood:
20	chr2:85773523..85775424-chr2:85821987..85824469,2	MCF-7	breast:
21	chr2:85657107..85663339-chr2:85772657..85777869,10	MCF-7	breast:
22	chr2:85773971..85776196-chr2:85797689..85800587,3	K562	blood:
23	chr2:85773949..85775754-chr2:85826806..85829916,3	MCF-7	breast:
24	chr2:85734096..85736580-chr2:85771521..85774702,3	K562	blood:
25	chr2:85641902..85652165-chr2:85771116..85782225,51	MCF-7	breast:
26	chr2:85774425..85777355-chr2:85827588..85829458,2	K562	blood:
27	chr2:85615286..85623438-chr2:85771409..85780547,22	MCF-7	breast:
28	chr2:85609654..85691056-chr2:85759187..85790499,656	K562	blood:
29	chr2:85611082..85627761-chr2:85764356..85782623,83	K562	blood:
30	chr2:85564176..85568715-chr2:85772750..85777610,4	K562	blood:
31	chr2:85653033..85655278-chr2:85772397..85774783,3	MCF-7	breast:
32	chr2:85734925..85738483-chr2:85772502..85775940,3	MCF-7	breast:
33	chr2:85597006..85598597-chr2:85774380..85776159,2	K562	blood:
34	chr2:85630277..85634541-chr2:85773340..85777509,4	K562	blood:
35	chr2:85655032..85657533-chr2:85773008..85775654,3	MCF-7	breast:
36	chr2:85773947..85775493-chr2:85791615..85793630,2	MCF-7	breast:
37	chr2:85774272..85776282-chr2:85797385..85799189,3	K562	blood:
38	chr2:85771229..85776857-chr2:85808442..85817073,8	K562	blood:
39	chr2:85596461..85599637-chr2:85772544..85775880,4	K562	blood:
40	chr2:85772772..85776034-chr2:85803471..85807133,4	K562	blood:
41	chr2:85589339..85593545-chr2:85771019..85776270,4	K562	blood:
42	chr2:85615241..85625394-chr2:85772377..85782714,25	MCF-7	breast:
43	chr2:85601232..85604311-chr2:85772616..85776174,4	K562	blood:
44	chr2:85729360..85731940-chr2:85770278..85775581,5	K562	blood:
45	chr17:56734941..56736885-chr2:85773843..85775740,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000239143	Chromatin interaction
ENSG00000168890	Chromatin interaction
ENSG00000042493	Chromatin interaction
ENSG00000207207	Chromatin interaction
ENSG00000115486	Chromatin interaction
ENSG00000118640	Chromatin interaction
ENSG00000152292	Chromatin interaction
ENSG00000244399	Chromatin interaction
ENSG00000168899	Chromatin interaction
ENSG00000168883	Chromatin interaction
ENSG00000199936	Chromatin interaction
ENSG00000115459	Chromatin interaction
ENSG00000273196	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000168894	Chromatin interaction
ENSG00000252293	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1009	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1010	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1011	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10172544	0.95[ASN][1000 genomes]
rs10175792	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10176176	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10179195	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10187424	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10198569	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10206961	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1058588	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1078004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891260	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12473819	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12714145	0.95[ASN][1000 genomes]
rs13394343	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1348818	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1446669	0.82[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs1561198	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1562323	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17026396	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1972297	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2028898	0.86[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs2028900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2043675	0.86[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs2044474	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2166529	0.92[CEU][hapmap];0.81[CHB][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2232748	0.81[JPT][hapmap]
rs2289972	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs2366639	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2592551	0.86[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs2886722	0.81[CHB][hapmap]
rs35215812	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3731827	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3731828	0.86[CHB][hapmap]
rs3755014	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3755015	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3770098	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs55971080	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59877521	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6547620	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6547624	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6547629	0.80[JPT][hapmap]
rs6705839	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6705971	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6714157	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6714709	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6721924	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6731005	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6731700	0.80[ASN][1000 genomes]
rs6733550	0.80[JPT][hapmap]
rs6733913	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6735152	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6738009	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6738645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6739015	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6743030	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6750832	0.90[ASN][1000 genomes]
rs6750847	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6757263	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs699664	0.86[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs7568458	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7579147	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7591175	0.93[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7593969	0.86[CHB][hapmap]
rs7605975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs762684	0.86[CHB][hapmap];0.86[JPT][hapmap]

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	nsv1005351	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv535803	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs6547621	GGCX	cis	Artery Aorta	GTEx
rs6547621	VAMP8	cis	uninvolved skin	skin_eQTL
rs6547621	VAMP8	cis	multi-tissue	Pritchard
rs6547621	GGCX	cis	Whole Blood	GTEx
rs6547621	VAMP8	Cis_1M	lymphoblastoid	RTeQTL
rs6547621	VAMP8	cis	lesional skin	skin_eQTL
rs6547621	GGCX	cis	multi-tissue	Pritchard
rs6547621	GGCX	cis	Artery Tibial	GTEx
rs6547621	VAMP8	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85768400-85774800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:85768400-85774800	Strong transcription	Placenta Amnion	Placenta Amnion
3	chr2:85768400-85777000	Strong transcription	Placenta	Placenta
4	chr2:85768400-85778000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:85768400-85786600	Strong transcription	Fetal Muscle Trunk	muscle
6	chr2:85768600-85779000	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr2:85768600-85786200	Strong transcription	Fetal Thymus	thymus
8	chr2:85769200-85774800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:85769400-85775800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:85769400-85776000	Strong transcription	Primary T cells from cord blood	blood
11	chr2:85769400-85776200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:85769400-85777000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:85769400-85782800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:85769400-85786600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:85769400-85786600	Strong transcription	Brain Germinal Matrix	brain
16	chr2:85769400-85787800	Weak transcription	Right Atrium	heart
17	chr2:85769800-85775000	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:85769800-85777200	Strong transcription	Adipose Nuclei	Adipose
19	chr2:85769800-85779400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:85769800-85782800	Strong transcription	Thymus	Thymus
21	chr2:85769800-85786400	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:85769800-85787000	Strong transcription	Fetal Stomach	stomach
23	chr2:85769800-85788000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:85770000-85774800	Strong transcription	NH-A	brain
25	chr2:85770000-85777000	Strong transcription	Fetal Muscle Leg	muscle
26	chr2:85770000-85779000	Strong transcription	Liver	Liver
27	chr2:85770000-85783400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:85770200-85775600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:85770200-85777000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:85770200-85787800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:85770400-85774800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:85770400-85774800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr2:85770400-85775200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:85770400-85775400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:85770400-85779200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:85770400-85786200	Strong transcription	Fetal Intestine Large	intestine
37	chr2:85770400-85786400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:85770600-85776000	Genic enhancers	A549	lung
39	chr2:85770600-85777000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:85770600-85777200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr2:85770600-85777200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:85770600-85779000	Strong transcription	Brain Anterior Caudate	brain
43	chr2:85770600-85781400	Weak transcription	Psoas Muscle	Psoas
44	chr2:85770600-85786400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:85770600-85786600	Strong transcription	Fetal Brain Female	brain
46	chr2:85770800-85778600	Weak transcription	Stomach Mucosa	stomach
47	chr2:85771000-85775600	Strong transcription	Brain Cingulate Gyrus	brain
48	chr2:85771000-85786400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr2:85771800-85786200	Strong transcription	Fetal Intestine Small	intestine
50	chr2:85772000-85786600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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