Variant report

Variant	rs9603500
Chromosome Location	chr13:39626951-39626952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000188811	Chromatin interaction
ENSG00000120685	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12430086	0.85[ASN][1000 genomes]
rs1887107	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1926474	0.81[ASN][1000 genomes]
rs1926475	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2324160	1.00[ASN][1000 genomes]
rs6563660	0.81[ASN][1000 genomes]
rs6563661	0.80[ASN][1000 genomes]
rs6563662	0.80[ASN][1000 genomes]
rs67948555	0.82[ASN][1000 genomes]
rs7337269	0.81[ASN][1000 genomes]
rs7985641	0.81[ASN][1000 genomes]
rs7995325	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9315649	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9566395	1.00[ASN][1000 genomes]
rs9576672	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9576680	0.86[ASN][1000 genomes]
rs9576720	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576723	1.00[ASN][1000 genomes]
rs9594319	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888511	0.91[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	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:78 , 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	chr13:39613200-39636400	Weak transcription	Gastric	stomach
4	chr13:39613200-39637200	Weak transcription	Pancreas	Pancrea
5	chr13:39613200-39647000	Weak transcription	Left Ventricle	heart
6	chr13:39613200-39647200	Weak transcription	Lung	lung
7	chr13:39613400-39646600	Weak transcription	Aorta	Aorta
8	chr13:39613600-39629000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr13:39613600-39629200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr13:39613600-39629800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr13:39613800-39627000	Weak transcription	Brain Substantia Nigra	brain
12	chr13:39613800-39639200	Weak transcription	Fetal Stomach	stomach
13	chr13:39614000-39627000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr13:39614000-39627000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr13:39614000-39628400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr13:39614000-39634400	Weak transcription	Fetal Kidney	kidney
17	chr13:39614400-39644000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr13:39615000-39627000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr13:39615000-39628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr13:39615000-39629800	Weak transcription	Brain Germinal Matrix	brain
21	chr13:39615000-39634400	Weak transcription	Fetal Brain Male	brain
22	chr13:39615000-39636200	Weak transcription	Fetal Intestine Small	intestine
23	chr13:39615000-39638200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr13:39615200-39627000	Weak transcription	K562	blood
25	chr13:39615200-39631600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr13:39615200-39637600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr13:39615400-39627800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr13:39617200-39628800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr13:39618200-39629200	Weak transcription	NHDF-Ad	bronchial
30	chr13:39618600-39643800	Weak transcription	Ovary	ovary
31	chr13:39618800-39627000	Weak transcription	NHEK	skin
32	chr13:39619200-39627000	Weak transcription	Brain Anterior Caudate	brain
33	chr13:39619200-39631800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr13:39619600-39627600	Weak transcription	Fetal Brain Female	brain
35	chr13:39619600-39632600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:39619800-39629600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr13:39619800-39629600	Weak transcription	Placenta	Placenta
38	chr13:39620000-39633600	Weak transcription	GM12878-XiMat	blood
39	chr13:39620000-39644200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr13:39621000-39628000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr13:39622600-39631800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr13:39622600-39643000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr13:39622800-39627400	Weak transcription	Fetal Muscle Leg	muscle
44	chr13:39622800-39631400	Weak transcription	Fetal Lung	lung
45	chr13:39622800-39639000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr13:39623600-39627000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr13:39623600-39627000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr13:39623600-39627200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr13:39623600-39627400	Weak transcription	Fetal Thymus	thymus
50	chr13:39623600-39629400	Weak transcription	Rectal Mucosa Donor 29	rectum

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