Variant report

Variant	rs9596108
Chromosome Location	chr13:50021542-50021543
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	chr13:50020071..50022197-chr13:50067941..50070115,2	K562	blood:

Variant related genes	Relation type
ENSG00000136147	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17072932	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17072933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60723161	0.81[ASN][1000 genomes]
rs67216195	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7318481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73188685	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73188686	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7324615	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7324805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7358961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990424	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7994710	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7998078	0.81[ASN][1000 genomes]
rs7998996	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs8000963	0.87[YRI][hapmap]
rs9316456	1.00[JPT][hapmap];0.85[YRI][hapmap]
rs9568203	0.87[LWK][hapmap];1.00[YRI][hapmap]
rs9591262	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591264	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9591288	1.00[JPT][hapmap]
rs9596107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9596110	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9596111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9596112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9596114	0.87[YRI][hapmap]
rs9596116	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9596127	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv430558	chr13:49914393-50059354	Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv430559	chr13:49930369-50059354	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv430560	chr13:49930643-50059354	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv430562	chr13:49930643-50067246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv430561	chr13:49930643-50089844	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv430564	chr13:49945247-50059354	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv430566	chr13:49945247-50089844	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv430571	chr13:49961137-50059354	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv430570	chr13:49961137-50089844	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv1807924	chr13:49991885-50036730	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv1796315	chr13:49992988-50031868	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	nsv523648	chr13:50005444-50086266	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv561613	chr13:50013622-50086266	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv900070	chr13:50013622-50087142	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50017000-50022000	Active TSS	NHLF	lung
2	chr13:50017200-50022200	Active TSS	K562	blood
3	chr13:50017200-50022400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:50019400-50036200	Weak transcription	Esophagus	oesophagus
5	chr13:50019600-50022200	Weak transcription	Ovary	ovary
6	chr13:50019600-50022400	Enhancers	Fetal Heart	heart
7	chr13:50019600-50024200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr13:50019600-50028200	Weak transcription	Fetal Stomach	stomach
9	chr13:50019600-50028600	Weak transcription	Fetal Lung	lung
10	chr13:50019600-50034400	Weak transcription	Adipose Nuclei	Adipose
11	chr13:50019600-50035400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr13:50019600-50035400	Weak transcription	Brain Substantia Nigra	brain
13	chr13:50019600-50035800	Weak transcription	Left Ventricle	heart
14	chr13:50019600-50035800	Weak transcription	HSMM	muscle
15	chr13:50019600-50036000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr13:50019800-50021600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:50019800-50021600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr13:50019800-50021600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr13:50019800-50022000	Enhancers	Primary hematopoietic stem cells	blood
20	chr13:50019800-50022000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr13:50019800-50022800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr13:50019800-50023200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr13:50019800-50023200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr13:50019800-50023400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr13:50019800-50028400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:50019800-50028600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr13:50019800-50035200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:50019800-50035200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr13:50019800-50035200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr13:50019800-50035800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr13:50019800-50035800	Weak transcription	Fetal Muscle Leg	muscle
32	chr13:50019800-50037400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr13:50019800-50037400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr13:50020000-50026400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:50020000-50026400	Weak transcription	Fetal Intestine Large	intestine
36	chr13:50020000-50035600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:50020000-50035600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr13:50020000-50037200	Weak transcription	Right Ventricle	heart
39	chr13:50020200-50021600	Weak transcription	Fetal Brain Male	brain
40	chr13:50020200-50023000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr13:50020200-50023400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr13:50020200-50024800	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr13:50020200-50026400	Weak transcription	Fetal Thymus	thymus
44	chr13:50020200-50028200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr13:50020200-50028200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr13:50020200-50034600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:50020200-50035400	Weak transcription	Placenta	Placenta
48	chr13:50020200-50035800	Weak transcription	Pancreas	Pancrea
49	chr13:50020200-50068400	Weak transcription	HMEC	breast
50	chr13:50020400-50021600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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