Variant report

Variant	rs16903350
Chromosome Location	chr5:14271131-14271132
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14264363..14267106-chr5:14269370..14271398,3	K562	blood:
2	chr5:14155881..14158811-chr5:14267142..14271683,5	MCF-7	breast:
3	chr5:13986931..13990201-chr5:14268952..14272276,3	MCF-7	breast:
4	chr5:14238457..14240756-chr5:14270238..14271962,2	MCF-7	breast:
5	chr5:14142083..14147002-chr5:14262644..14273159,29	MCF-7	breast:
6	chr5:14107849..14108864-chr5:14270067..14271390,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10062034	0.83[AMR][1000 genomes]
rs10076925	0.83[AMR][1000 genomes]
rs16903321	0.87[AFR][1000 genomes]
rs16903322	0.87[AFR][1000 genomes]
rs16903376	0.92[AFR][1000 genomes]
rs16903399	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16903467	0.83[AMR][1000 genomes]
rs2015269	0.83[AMR][1000 genomes]
rs55750919	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55754427	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55773296	0.83[AMR][1000 genomes]
rs56114434	0.83[AMR][1000 genomes]
rs56140232	0.85[AFR][1000 genomes]
rs56141029	0.83[AMR][1000 genomes]
rs56227025	0.83[AMR][1000 genomes]
rs56664186	0.83[AMR][1000 genomes]
rs56712870	0.83[AMR][1000 genomes]
rs57560019	0.83[AMR][1000 genomes]
rs57764801	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57974400	0.83[AMR][1000 genomes]
rs58324829	0.83[AMR][1000 genomes]
rs58443103	0.83[AMR][1000 genomes]
rs58716074	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58897996	0.83[AMR][1000 genomes]
rs59499572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59853866	0.83[AMR][1000 genomes]
rs60077210	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60568524	0.83[AFR][1000 genomes]
rs61011080	0.85[AFR][1000 genomes]
rs61396062	0.83[AMR][1000 genomes]
rs61509800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61665335	0.85[AFR][1000 genomes]
rs6868596	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73748687	0.80[AFR][1000 genomes]
rs73748806	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73748811	0.83[AMR][1000 genomes]
rs73749082	0.83[AMR][1000 genomes]
rs73749083	0.83[AMR][1000 genomes]
rs73749085	0.83[AMR][1000 genomes]
rs73749234	0.83[AMR][1000 genomes]
rs73749235	0.83[AMR][1000 genomes]
rs73751311	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751322	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751323	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751329	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751335	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751336	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751337	0.83[AMR][1000 genomes]
rs73751338	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751339	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751340	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751342	0.85[AMR][1000 genomes]
rs7703674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7705426	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7713114	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7716460	0.83[AMR][1000 genomes]
rs7723309	0.83[AMR][1000 genomes]
rs7724084	0.83[AMR][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	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14265200-14271400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:14265200-14293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:14265400-14271200	Enhancers	NHLF	lung
4	chr5:14265400-14272200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr5:14265400-14277200	Weak transcription	Thymus	Thymus
6	chr5:14265400-14284600	Weak transcription	Stomach Mucosa	stomach
7	chr5:14265400-14286600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:14267000-14272600	Enhancers	HepG2	liver
9	chr5:14268600-14291000	Weak transcription	Fetal Kidney	kidney
10	chr5:14269000-14271800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr5:14269000-14272400	Enhancers	Liver	Liver
12	chr5:14269200-14271200	Enhancers	Hela-S3	cervix
13	chr5:14269200-14280000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:14269200-14286400	Weak transcription	Pancreas	Pancrea
15	chr5:14269200-14286600	Weak transcription	Spleen	Spleen
16	chr5:14269400-14271400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr5:14269400-14273800	Genic enhancers	HSMM	muscle
18	chr5:14269600-14271200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:14269800-14271400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:14270000-14271200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:14270200-14271200	Enhancers	HSMMtube	muscle
22	chr5:14270200-14272600	Enhancers	Fetal Heart	heart
23	chr5:14270200-14290800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:14270400-14271200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:14270400-14271200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:14270400-14271400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:14270400-14271400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:14270400-14271400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:14270400-14271400	Weak transcription	Aorta	Aorta
30	chr5:14270400-14271400	Weak transcription	Right Ventricle	heart
31	chr5:14270400-14271800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:14270400-14271800	Genic enhancers	Osteobl	bone
33	chr5:14270400-14272200	Weak transcription	K562	blood
34	chr5:14270400-14272600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:14270400-14273600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:14270400-14276200	Weak transcription	Psoas Muscle	Psoas
37	chr5:14270400-14276400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:14270400-14276400	Weak transcription	Left Ventricle	heart
39	chr5:14270400-14277600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:14270400-14278200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:14270400-14279800	Weak transcription	Ovary	ovary
42	chr5:14270400-14280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:14270400-14280400	Weak transcription	Placenta	Placenta
44	chr5:14270400-14280400	Weak transcription	Fetal Thymus	thymus
45	chr5:14270400-14280600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr5:14270400-14280600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:14270400-14280600	Weak transcription	Lung	lung
48	chr5:14270400-14283200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:14270400-14284400	Weak transcription	Colonic Mucosa	Colon
50	chr5:14270400-14284600	Weak transcription	Brain Germinal Matrix	brain

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