Variant report

Variant	rs3757256
Chromosome Location	chr6:13713659-13713660
allele	C/T
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13686589..13691071-chr6:13710597..13713720,6	K562	blood:
2	chr6:13703743..13705757-chr6:13712344..13714353,2	MCF-7	breast:
3	chr6:13612439..13617063-chr6:13710643..13713872,7	MCF-7	breast:
4	chr6:13712256..13714398-chr6:13725384..13727195,2	MCF-7	breast:
5	chr6:13613792..13617654-chr6:13711804..13714048,3	K562	blood:
6	chr6:13712562..13715550-chr6:13731027..13734094,5	K562	blood:
7	chr6:13712294..13715235-chr6:13734842..13736345,2	K562	blood:
8	chr6:13658437..13687167-chr6:13707669..13717356,51	K562	blood:
9	chr6:13272896..13275816-chr6:13711430..13713666,2	K562	blood:
10	chr6:13613655..13618769-chr6:13709987..13714197,10	MCF-7	breast:
11	chr6:13711887..13713957-chr6:13747635..13751147,3	K562	blood:
12	chr6:13667308..13669773-chr6:13712805..13714594,2	K562	blood:
13	chr6:13712160..13713873-chr6:13816640..13818344,2	K562	blood:
14	chr6:13710378..13713685-chr6:13811318..13818372,10	MCF-7	breast:
15	chr6:13573221..13576787-chr6:13710917..13713733,6	K562	blood:
16	chr6:13711847..13714774-chr6:13741208..13742857,2	K562	blood:
17	chr6:13677099..13683232-chr6:13708060..13717356,16	K562	blood:
18	chr6:13709898..13716469-chr6:13809605..13815390,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000252966	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000215022	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000050393	Chromatin interaction
ENSG00000112137	Chromatin interaction
ENSG00000233075	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10484251	0.80[ASN][1000 genomes]
rs11753232	0.81[ASN][1000 genomes]
rs11759518	0.81[ASN][1000 genomes]
rs17213683	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17797988	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17797994	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1963222	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1963223	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2299026	0.80[ASN][1000 genomes]
rs2299027	0.80[ASN][1000 genomes]
rs35930359	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3752501	0.80[ASN][1000 genomes]
rs4712100	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4715512	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56272112	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6935036	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831051	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72831055	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72831059	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72831061	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7760689	0.83[ASN][1000 genomes]
rs9475227	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9475276	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv883451	chr6:13704341-13728670	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv883452	chr6:13704341-13733565	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	esv3404065	chr6:13709573-13714171	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13712800-13715600	Weak transcription	Esophagus	oesophagus
2	chr6:13712800-13715600	Weak transcription	Gastric	stomach
3	chr6:13712800-13716800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:13712800-13717000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:13713000-13713800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:13713000-13716600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:13713200-13713800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr6:13713200-13713800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:13713200-13713800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:13713200-13713800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr6:13713200-13713800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr6:13713200-13714000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr6:13713200-13714000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr6:13713200-13714000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr6:13713200-13714200	Enhancers	Colon Smooth Muscle	Colon
16	chr6:13713200-13715000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr6:13713200-13715200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr6:13713200-13715400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:13713200-13715400	Enhancers	Fetal Heart	heart
20	chr6:13713200-13716400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:13713400-13713800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:13713400-13714000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:13713400-13714000	Enhancers	Dnd41	blood
24	chr6:13713400-13715600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:13713400-13715800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:13713600-13715000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:13713600-13715000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:13713600-13715200	Weak transcription	GM12878-XiMat	blood
29	chr6:13713600-13715400	Weak transcription	HepG2	liver
30	chr6:13713600-13715600	Weak transcription	K562	blood
31	chr6:13713600-13715800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:13713600-13716000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr6:13713600-13717200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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