Variant report

Variant	rs7986400
Chromosome Location	chr13:48668792-48668793
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:48668651..48670754-chr13:48805441..48808765,3	MCF-7	breast:
2	chr13:48667865..48670263-chr13:48806295..48809101,2	MCF-7	breast:
3	chr13:48610643..48613395-chr13:48668732..48670612,2	MCF-7	breast:
4	chr13:48611722..48613362-chr13:48667186..48669052,2	K562	blood:
5	chr13:48667088..48669248-chr13:48807095..48809011,2	K562	blood:
6	chr13:48651976..48654376-chr13:48667767..48670618,2	K562	blood:

Variant related genes	Relation type
ENSG00000136143	Chromatin interaction
ENSG00000136159	Chromatin interaction
ENSG00000136156	Chromatin interaction
ENSG00000136146	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1327655	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17350996	0.87[EUR][1000 genomes]
rs2025865	0.87[EUR][1000 genomes]
rs3809330	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4941627	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4942742	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4942743	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4942747	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942748	0.83[EUR][1000 genomes]
rs4942749	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4942750	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4942751	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4942752	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59829900	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6561434	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7317431	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7318704	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7322766	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7323969	0.88[EUR][1000 genomes]
rs7331551	0.90[EUR][1000 genomes]
rs7332147	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7332326	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7333237	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7333247	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7338844	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7338999	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7339370	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7981114	0.88[EUR][1000 genomes]
rs7990060	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9285165	0.88[EUR][1000 genomes]
rs9316346	0.83[EUR][1000 genomes]
rs9316347	0.83[EUR][1000 genomes]
rs9316348	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316349	0.88[EUR][1000 genomes]
rs9316352	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9316353	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316354	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9316355	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316356	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316357	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316358	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316359	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9562800	0.84[EUR][1000 genomes]
rs9562806	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9562808	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9567993	0.86[EUR][1000 genomes]
rs9567994	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9567999	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568000	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9568001	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9568002	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9568003	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9568004	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9568005	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9568006	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9568008	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9568009	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9568010	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9568014	0.87[AMR][1000 genomes]
rs9591135	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591138	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591139	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591140	0.88[EUR][1000 genomes]
rs9595835	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9595836	0.84[EUR][1000 genomes]
rs9595837	0.81[EUR][1000 genomes]
rs9595843	0.88[EUR][1000 genomes]
rs9595851	0.87[AMR][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	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48666800-48669400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr13:48667000-48669400	Active TSS	K562	blood
3	chr13:48667600-48668800	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr13:48667600-48668800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr13:48667600-48668800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr13:48667600-48668800	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr13:48667600-48668800	Flanking Active TSS	Fetal Thymus	thymus
8	chr13:48667600-48668800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr13:48667600-48669400	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr13:48667600-48669600	Active TSS	A549	lung
11	chr13:48667600-48670000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr13:48667800-48668800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:48667800-48668800	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr13:48667800-48668800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr13:48667800-48668800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr13:48667800-48669200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr13:48667800-48669400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr13:48667800-48669400	Active TSS	NHLF	lung
19	chr13:48667800-48669600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:48667800-48669600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:48667800-48669600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr13:48667800-48669600	Active TSS	Right Atrium	heart
23	chr13:48667800-48669600	Active TSS	Right Ventricle	heart
24	chr13:48668000-48668800	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr13:48668000-48668800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr13:48668000-48668800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr13:48668000-48668800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr13:48668000-48668800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr13:48668000-48668800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr13:48668000-48668800	Flanking Active TSS	Liver	Liver
31	chr13:48668000-48668800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr13:48668000-48668800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr13:48668000-48668800	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr13:48668000-48669000	Bivalent/Poised TSS	HepG2	liver
35	chr13:48668000-48669200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr13:48668000-48669400	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr13:48668000-48669400	Active TSS	H1 Cell Line	embryonic stem cell
38	chr13:48668000-48669400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr13:48668000-48669400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr13:48668000-48669400	Active TSS	Fetal Muscle Trunk	muscle
41	chr13:48668000-48669400	Active TSS	HSMMtube	muscle
42	chr13:48668000-48670000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:48668200-48668800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr13:48668200-48668800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr13:48668200-48668800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr13:48668200-48668800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr13:48668200-48668800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr13:48668200-48668800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr13:48668200-48668800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr13:48668200-48668800	Flanking Active TSS	Colonic Mucosa	Colon

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