Variant report

Variant	rs73751327
Chromosome Location	chr5:14280139-14280140
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14273020..14274776-chr5:14278391..14281158,2	MCF-7	breast:
2	chr5:14279019..14280717-chr5:14281044..14283924,2	K562	blood:
3	chr5:14107611..14110388-chr5:14277452..14281941,4	MCF-7	breast:
4	chr5:14268388..14270560-chr5:14279679..14282134,3	MCF-7	breast:

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]
rs16903350	1.00[AFR][1000 genomes];1.00[AMR][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]
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	chr5:14265200-14293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:14265400-14284600	Weak transcription	Stomach Mucosa	stomach
3	chr5:14265400-14286600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:14268600-14291000	Weak transcription	Fetal Kidney	kidney
5	chr5:14269200-14286400	Weak transcription	Pancreas	Pancrea
6	chr5:14269200-14286600	Weak transcription	Spleen	Spleen
7	chr5:14270200-14290800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:14270400-14280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:14270400-14280400	Weak transcription	Placenta	Placenta
10	chr5:14270400-14280400	Weak transcription	Fetal Thymus	thymus
11	chr5:14270400-14280600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:14270400-14280600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:14270400-14280600	Weak transcription	Lung	lung
14	chr5:14270400-14283200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:14270400-14284400	Weak transcription	Colonic Mucosa	Colon
16	chr5:14270400-14284600	Weak transcription	Brain Germinal Matrix	brain
17	chr5:14270400-14284800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:14270400-14284800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:14270400-14286400	Weak transcription	Fetal Intestine Small	intestine
20	chr5:14270400-14286800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:14270400-14288800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:14270400-14289400	Weak transcription	Gastric	stomach
23	chr5:14270400-14293000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:14270400-14305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
26	chr5:14270800-14280200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:14270800-14280200	Weak transcription	Fetal Lung	lung
28	chr5:14270800-14280200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:14270800-14280400	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:14270800-14280600	Weak transcription	Fetal Intestine Large	intestine
31	chr5:14270800-14281400	Weak transcription	Fetal Stomach	stomach
32	chr5:14270800-14282000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr5:14270800-14286800	Weak transcription	Fetal Brain Male	brain
34	chr5:14270800-14293000	Weak transcription	Brain Hippocampus Middle	brain
35	chr5:14271000-14280400	Weak transcription	Adipose Nuclei	Adipose
36	chr5:14271000-14295800	Weak transcription	Brain Angular Gyrus	brain
37	chr5:14271800-14280200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:14271800-14280600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:14271800-14284400	Weak transcription	Aorta	Aorta
40	chr5:14272200-14280400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr5:14272200-14281600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:14272400-14280200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr5:14272400-14280400	Weak transcription	Liver	Liver
44	chr5:14272400-14280400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:14273600-14284200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:14274000-14280200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:14274000-14280400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:14276600-14280600	Weak transcription	Right Ventricle	heart
49	chr5:14276600-14281800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:14276600-14284600	Weak transcription	Rectal Smooth Muscle	rectum

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