Variant report

Variant	rs4713376
Chromosome Location	chr6:30773314-30773315
allele	A/C
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:30723023..30725231-chr6:30773189..30775905,2	MCF-7	breast:
2	chr6:30761074..30762645-chr6:30772509..30774883,2	K562	blood:
3	chr6:30768767..30770954-chr6:30771391..30773686,3	MCF-7	breast:
4	chr6:30710469..30712305-chr6:30768724..30773816,7	MCF-7	breast:
5	chr6:30708819..30712359-chr6:30771937..30775447,4	K562	blood:
6	chr6:30772437..30774546-chr6:30775757..30777964,2	MCF-7	breast:
7	chr6:30685446..30687189-chr6:30771384..30774074,2	MCF-7	breast:
8	chr6:30766009..30775294-chr6:30775700..30782710,15	MCF-7	breast:
9	chr6:30735613..30737637-chr6:30772309..30773867,2	MCF-7	breast:
10	chr6:30758458..30759244-chr6:30773017..30773553,2	MCF-7	breast:
11	chr6:30718989..30721292-chr6:30772340..30774126,2	MCF-7	breast:
12	chr6:30719031..30719983-chr6:30772608..30773489,5	MCF-7	breast:
13	chr6:30773000..30773657-chr7:17286245..17286746,2	HCT-116	colon:

No data

Variant related genes	Relation type
ENSG00000137337	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000137331	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10807071	0.85[EUR][1000 genomes]
rs12189560	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189986	0.85[EUR][1000 genomes]
rs12190453	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12190527	0.84[AFR][1000 genomes]
rs12192205	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12192430	0.85[EUR][1000 genomes]
rs12192704	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12192760	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12192828	0.84[EUR][1000 genomes]
rs12195469	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12195508	0.84[EUR][1000 genomes]
rs12195605	0.83[EUR][1000 genomes]
rs12195964	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12197221	0.84[EUR][1000 genomes]
rs12198723	0.84[EUR][1000 genomes]
rs12199559	0.85[EUR][1000 genomes]
rs12199612	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12200562	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12200829	0.85[EUR][1000 genomes]
rs12202570	0.85[EUR][1000 genomes]
rs12202778	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12202957	0.85[EUR][1000 genomes]
rs12203011	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203199	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203797	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12205844	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12205961	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12206022	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12206742	0.85[EUR][1000 genomes]
rs12206930	0.83[EUR][1000 genomes]
rs12207652	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12208098	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12208771	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12209725	0.85[EUR][1000 genomes]
rs12210111	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12210318	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12210590	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12212837	0.84[EUR][1000 genomes]
rs12213493	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12213497	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12214232	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12214398	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12215119	0.84[EUR][1000 genomes]
rs16897921	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16897932	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17189483	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17189490	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17195830	0.84[EUR][1000 genomes]
rs17195837	0.84[EUR][1000 genomes]
rs2394414	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28744161	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28744171	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28830248	0.81[AFR][1000 genomes]
rs28877339	0.83[EUR][1000 genomes]
rs28890780	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28896520	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4248152	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4327730	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4409219	0.81[EUR][1000 genomes]
rs4711240	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711241	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4713373	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713386	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4713387	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4713388	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4713391	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59293911	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400964	0.84[EUR][1000 genomes]
rs62400965	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62400966	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62400977	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62400978	0.84[EUR][1000 genomes]
rs62400979	0.83[EUR][1000 genomes]
rs62400980	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62400981	0.84[EUR][1000 genomes]
rs62408707	0.82[EUR][1000 genomes]
rs62408708	0.83[EUR][1000 genomes]
rs62408709	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62408713	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62408715	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62408716	0.85[EUR][1000 genomes]
rs62408717	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62408723	0.85[EUR][1000 genomes]
rs62408724	0.85[EUR][1000 genomes]
rs62408725	0.85[EUR][1000 genomes]
rs62408726	0.85[EUR][1000 genomes]
rs62408727	0.85[EUR][1000 genomes]
rs62408728	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
6	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
8	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
9	nsv1023695	chr6:30754540-30773349	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4713376	PACSIN1	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30761600-30781000	Weak transcription	Small Intestine	intestine
2	chr6:30767200-30781200	Weak transcription	Gastric	stomach
3	chr6:30770000-30774400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:30771200-30777400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:30772000-30773400	Enhancers	Primary T cells from cord blood	blood
6	chr6:30772000-30773800	Enhancers	HepG2	liver
7	chr6:30772000-30774600	Enhancers	K562	blood
8	chr6:30772200-30775000	Enhancers	Placenta	Placenta
9	chr6:30772200-30777200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:30772400-30773600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:30772400-30777000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:30772600-30776600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr6:30772600-30777600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr6:30772600-30778000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:30772600-30778400	Weak transcription	Fetal Thymus	thymus
16	chr6:30772800-30774600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr6:30772800-30776000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr6:30772800-30776400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr6:30772800-30778200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr6:30773000-30773800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr6:30773000-30776600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr6:30773000-30778600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:30773200-30775800	Weak transcription	Primary monocytes fromperipheralblood	blood

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