Variant report

Variant	rs9315647
Chromosome Location	chr13:39626526-39626527
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:39611780..39613839-chr13:39625447..39627531,2	MCF-7	breast:
2	chr13:39620977..39623445-chr13:39625294..39627336,2	K562	blood:
3	chr13:39611994..39615233-chr13:39623870..39626918,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120685	Chromatin interaction
ENSG00000188811	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1078421	0.85[ASN][1000 genomes]
rs12430086	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs1326404	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs1409442	0.89[EUR][1000 genomes]
rs1536342	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1853970	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1887111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1926471	0.95[ASN][1000 genomes]
rs2094250	0.86[AFR][1000 genomes]
rs2094251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2148418	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2324125	0.89[ASN][1000 genomes]
rs2324160	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3751376	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs3865000	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55713408	0.81[ASN][1000 genomes]
rs6563660	0.89[CEU][hapmap]
rs71215982	0.80[ASN][1000 genomes]
rs7320516	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7324256	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs7324837	0.84[EUR][1000 genomes]
rs7489497	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9315650	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9532325	0.81[ASN][1000 genomes]
rs9548594	0.95[ASN][1000 genomes]
rs9548610	0.94[ASN][1000 genomes]
rs9548612	0.90[ASN][1000 genomes]
rs9566395	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9576680	0.81[EUR][1000 genomes]
rs9576723	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9603503	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9888511	0.89[CEU][hapmap];0.92[EUR][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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2753642	chr13:39522300-39649000	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2753553	chr13:39526600-39649000	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1035255	chr13:39618302-39715336	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39613000-39629000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:39613000-39636200	Weak transcription	Spleen	Spleen
3	chr13:39613200-39626600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:39613200-39636400	Weak transcription	Gastric	stomach
5	chr13:39613200-39637200	Weak transcription	Pancreas	Pancrea
6	chr13:39613200-39647000	Weak transcription	Left Ventricle	heart
7	chr13:39613200-39647200	Weak transcription	Lung	lung
8	chr13:39613400-39646600	Weak transcription	Aorta	Aorta
9	chr13:39613600-39626600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr13:39613600-39626600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr13:39613600-39629000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr13:39613600-39629200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr13:39613600-39629800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr13:39613800-39627000	Weak transcription	Brain Substantia Nigra	brain
15	chr13:39613800-39639200	Weak transcription	Fetal Stomach	stomach
16	chr13:39614000-39627000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr13:39614000-39627000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr13:39614000-39628400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr13:39614000-39634400	Weak transcription	Fetal Kidney	kidney
20	chr13:39614400-39644000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr13:39615000-39626600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr13:39615000-39627000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr13:39615000-39628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr13:39615000-39629800	Weak transcription	Brain Germinal Matrix	brain
25	chr13:39615000-39634400	Weak transcription	Fetal Brain Male	brain
26	chr13:39615000-39636200	Weak transcription	Fetal Intestine Small	intestine
27	chr13:39615000-39638200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr13:39615200-39627000	Weak transcription	K562	blood
29	chr13:39615200-39631600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr13:39615200-39637600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr13:39615400-39627800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr13:39617200-39628800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr13:39618200-39629200	Weak transcription	NHDF-Ad	bronchial
34	chr13:39618600-39643800	Weak transcription	Ovary	ovary
35	chr13:39618800-39626600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr13:39618800-39627000	Weak transcription	NHEK	skin
37	chr13:39619000-39626800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr13:39619200-39627000	Weak transcription	Brain Anterior Caudate	brain
39	chr13:39619200-39631800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr13:39619400-39626800	Weak transcription	Brain Hippocampus Middle	brain
41	chr13:39619600-39627600	Weak transcription	Fetal Brain Female	brain
42	chr13:39619600-39632600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:39619800-39626800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr13:39619800-39629600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr13:39619800-39629600	Weak transcription	Placenta	Placenta
46	chr13:39620000-39633600	Weak transcription	GM12878-XiMat	blood
47	chr13:39620000-39644200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:39621000-39628000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr13:39622600-39631800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr13:39622600-39643000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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